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Two New Heisenberg-Fellowships
Tobias Hermle and Peter Walentek from our department receive funding from the DFG
26.01.2024 14:06
Publications
(2024)
The membrane transporter SLC25A48 enables transport of choline into human mitochondria.
Kidney Int, doi: 10.1016/j.kint.2024.06.022. Epub ahead of print.
(2024)
VHL-dependence of EHHADH Expression in a Human Renal Cell Carcinoma Cell Line.
J Kidney Cancer VHL, doi: 10.15586/jkcvhl.v11i1.322.
(2024)
Kidins220 and Aiolos promote thymic iNKT cell development by reducing TCR signals.
Sci Adv, doi: 10.1126/sciadv.adj2802.
(2024)
ADP-Ribosylation Factor-Interacting Protein 2 Acts as a Novel Regulator of Mitophagy and Autophagy in Podocytes in Diabetic Nephropathy.
Antioxidants (Basel), doi: 10.3390/antiox13010081.
(2024)
HbA1c-dependent projection of long-term renal outcomes.
J Intern Med, doi: 10.1111/joim.13736.
(2024)
Atrial fibrillation and survival on a medical intensive care unit.
Int J Cardiol, doi: 10.1016/j.ijcard.2023.131673.
(2024)
Cyclin-dependent kinase 4 drives cystic kidney disease in the absence of mTORC1 signaling activity
Kidney Int, doi: 10.1016/j.kint.2024.08.021. Epub ahead of print.
(2024)
Linking Basement Membrane and Slit Diaphragm in Drosophila Nephrocytes
J Am Soc Nephrol, doi: 10.1681/ASN.0000000000000400. Epub ahead of print.
(2024)
Non-antigen-specific Immunoadsorption Is a Risk Factor for Severe Postoperative Infections in ABO-Incompatible Kidney Transplant Recipients
Transpl Int, doi: 10.3389/ti.2024.12263.
(2024)
Author Correction: Microridge-like structures anchor motile cilia
Nat Commun, doi: 10.1038/s41467-024-52323-4. Erratum for: Nat Commun. 2022 Apr 19;13(1):2056. doi: 10.1038/s41467-022-29741-3.
(2024)
BICC1 Interacts with PKD1 and PKD2 to Drive Cystogenesis in ADPKD
bioRxiv [Preprint], doi: 10.1101/2024.08.27.608867.
(2024)
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
Kidney Int Rep, doi: 10.1016/j.ekir.2024.05.007.
(2024)
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
Eur J Hum Genet, doi: 10.1038/s41431-024-01634-7. Epub ahead of print.
(2024)
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Nat Genet, doi: 10.1038/s41588-024-01800-z.
(2024)
Tissue-resident memory T cells break tolerance to renal autoantigens and orchestrate immune-mediated nephritis.
Cell Mol Immunol, doi: 10.1038/s41423-024-01197-z.
(2024)
Extrarenal manifestations in inherited kidney diseases.
Nephrol Dial Transplant, doi: 10.1093/ndt/gfae176. Epub ahead of print.
(2024)
Long-term outcomes of adults with FSGS in the German Chronic Kidney Disease cohort.
Clin Kidney J, doi: 10.1093/ckj/sfae131.
(2024)
Long-term outcomes of patients with IgA nephropathy in the German CKD cohort.
Clin Kidney J, doi: 10.1093/ckj/sfae230.
(2024)
Multiciliogenesis: Tricking the cell-cycle machinery to build hundreds of cilia.
Curr Biol, doi: 10.1016/j.cub.2024.07.024.
(2023)
SCD5 Regulation by VHL Affects Cell Proliferation and Lipid Homeostasis in ccRCC.
Cells, doi: 10.3390/cells12060835.
(2023)
Inversin (NPHP2) and Vangl2 are required for normal zebrafish cloaca formation.
doi: 10.1016/j.bbrc.2023.06.058.
(2023)
Safe and successful CAR T-cell therapy targeting BCMA in a multiple myeloma patient requiring hemodialysis.
Ann Hematol, doi: 10.1007/s00277-023-05163-z.
(2023)
Transcriptional regulation by the NSL complex enables diversification of IFT functions in ciliated versus nonciliated cells.
Sci Adv, doi: 10.1126/sciadv.adh5598.
(2023)
Nirmatrelvir/ritonavir treatment in SARS-CoV-2 positive kidney transplant recipients - a case series with four patients.
BMC Nephrol, doi: 10.1186/s12882-023-03154-w.
(2023)
A SEC61A1 variant is associated with autosomal dominant polycystic liver disease.
Liver Int, doi: 10.1111/liv.15493.
(2023)
Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.
Nat Genet, doi: 10.1038/s41588-023-01409-8.
(2023)
Total escape of SARS-CoV-2 from dual monoclonal antibody therapy in an immunocompromised patient.
Nat Commun, doi: 10.1038/s41467-023-37591-w.
(2023)
Eculizumab as a treatment for C3 glomerulopathy: a single-center retrospective study.
BMC Nephrol, doi: 10.1186/s12882-023-03058-9.
(2023)
Integrated Metabolomic and Transcriptomic Analysis of Modified Nucleosides for Biomarker Discovery in Clear Cell Renal Cell Carcinoma.
Cells, doi: 10.3390/cells12081102.
(2023)
Eomes is sufficient to regulate IL-10 expression and cytotoxic effector molecules in murine CD4+ T cells.
Front Immunol, doi: 10.3389/fimmu.2023.1058267.
(2023)
The evolutionary history of Brachyury genes in Hydrozoa involves duplications, divergence, and neofunctionalization.
Sci Rep, doi: 10.1038/s41598-023-35979-8.
(2023)
Bidirectional multiciliated cell extrusion is controlled by Notch-driven basal extrusion and Piezo1-driven apical extrusion.
Development., doi: 10.1242/dev.201612.
(2023)
Emerging principles of primary cilia dynamics in controlling tissue organization and function.
EMBO J, doi: 10.15252/embj.2023113891. Epub ahead of print.
(2023)
ER stress and slit diaphragms: is there a connection?
Kidney Int, doi: 10.1016/j.kint.2023.01.028.
(2023)
The Interplay of Autophagy and Oxidative Stress in the Kidney: What Do We Know?
Nephron, doi: 10.1159/000531290. Epub ahead of print.
(2023)
Identification of Covariates Modulating B-Cell Repopulation Kinetics in Subjects Receiving Rituximab Treatment.
Arthritis Rheumatol, doi: 10.1002/art.42625. Epub ahead of print.
(2023)
HNF1B Alters an Evolutionarily Conserved Nephrogenic Program of Target Genes.
J Am Soc Nephrol, doi: 10.1681/ASN.2022010076.
(2023)
PATJ inhibits histone deacetylase 7 to control tight junction formation and cell polarity.
Cell Mol Life Sci, doi: 10.1007/s00018-023-04994-3.
(2023)
Kif21a deficiency leads to impaired glomerular filtration barrier function.
Sci Rep, doi: 10.1038/s41598-023-46270-1.
(2023)
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT).
Kidney Int, doi: 10.1016/j.kint.2023.11.032.
(2023)
A novel role for the chloride intracellular channel protein Clic5 in ciliary function.
Sci Rep, doi: 10.1038/s41598-023-44235-y.
(2023)
Nitrogen-vacancy center magnetic imaging of Fe3O4 nanoparticles inside the gastrointestinal tract of Drosophila melanogaster.
Nanoscale Adv, doi: 10.1039/d3na00684k.
(2023)
Convergence of multiple RNA-silencing pathways on GW182/TNRC6.
Mol Cell, doi: 10.1016/j.molcel.2023.06.001.
(2023)
Clinical covariates influencing clinical outcomes in primary membranous nephropathy.
BMC Nephrol, doi: 10.1186/s12882-023-03288-x. Erratum in: BMC Nephrol. 2023 Sep 3;24(1):260.
(2022)
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Am J Hum Genet, doi: 10.1016/j.ajhg.2022.03.015.
(2022)
Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.
Ann Hum Genet, doi: 10.1111/ahg.12454.
(2022)
The Lectin LecB Induces Patches with Basolateral Characteristics at the Apical Membrane to Promote Pseudomonas aeruginosa Host Cell Invasion.
mBio, doi: 10.1128/mbio.00819-22.
(2022)
Corpuscles of Stannius development requires FGF signaling.
Dev Biol, doi: 10.1016/j.ydbio.2021.10.005.
(2022)
alpha-Parvin Defines a Specific Integrin Adhesome to Maintain the Glomerular Filtration Barrier.
J Am Soc Nephrol, doi: 10.1681/ASN.2021101319.
(2022)
Inhibition of endoplasmic reticulum stress signaling rescues cytotoxicity of human apolipoprotein-L1 risk variants in Drosophila.
Kidney Int, doi: 10.1016/j.kint.2021.12.031.
(2022)
CDC42 controlled apical-basal polarity regulates intestinal stem cell to transit amplifying cell fate transition via YAP-EGF-mTOR signaling.
Cell Rep, doi: 10.1016/j.celrep.2021.110009.
(2022)
Scaffold polarity proteins Par3A and Par3B share redundant functions while Par3B acts independent of atypical protein kinase C/Par6 in podocytes to maintain the kidney filtration barrier.
Kidney Int, doi: 10.1016/j.kint.2021.11.030.
(2022)
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
Nephrol Dial Transplant, doi: 10.1093/ndt/gfab218.
(2022)
The wind of change in the management of autosomal dominant polycystic kidney disease in childhood.
Pediatr Nephrol, doi: 10.1007/s00467-021-04974-4.
(2022)
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
J Am Soc Nephrol, doi: 10.1681/ASN.2021050596.
(2022)
Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.
J Clin Invest, doi: 10.1172/JCI147253.
(2022)
Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
Pediatr Nephrol, doi: 10.1007/s00467-022-05441-4.
(2022)
Correction to: The wind of change in the management of autosomal dominant polycystic kidney disease in childhood.
Pediatr Nephrol, doi: 10.1007/s00467-021-05207-4. Erratum for: Pediatr Nephrol. 2022 Mar;37(3):473-487. PMID: 34426882.
(2022)
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.
Orphanet J Rare Dis, doi: 10.1186/s13023-022-02265-1.
(2022)
Lifelong Effect of Therapy in Young Patients with the COL4A5 Alport Missense Variant p.(Gly624Asp): a Prospective Cohort Study.
Nephrol Dial Transplant, doi: 10.1093/ndt/gfac006.
(2022)
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int, doi: 10.1016/j.kint.2022.01.028.
(2022)
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
Hum Mol Genet, doi: 10.1093/hmg/ddac027.
(2022)
GVHD, IBD, and primary immunodeficiencies: The gut as a target of immunopathology resulting from impaired immunity.
Eur J Immunol, doi: 10.1002/eji.202149530.
(2022)
Conventional NK Cells and Type 1 Innate Lymphoid Cells Do Not Influence Pathogenesis of Experimental Glomerulonephritis.
J Immunol, doi: 10.4049/jimmunol.2101012.
(2022)
IFNL4 rs368234815 polymorphism does not predict risk of BK virus associated nephropathy after living-donor kidney transplant: A case-control study.
Clin Transplant, doi: 10.1111/ctr.14663.
(2022)
MARVEL domain containing CMTM4 affects CXCR4 trafficking.
Mol Biol Cell, doi: 10.1091/mbc.E22-05-0152.
(2022)
mTOR-Dependent Autophagy Regulates Slit Diaphragm Density in Podocyte-like Drosophila Nephrocytes.
Cells, doi: 10.3390/cells11132103.
(2022)
Selective endocytosis controls slit diaphragm maintenance and dynamics in Drosophila nephrocytes.
Elife, doi: 10.7554/eLife.79037.
(2022)
Control of Directed Cell Migration after Tubular Cell Injury by Nucleotide Signaling.
Int J Mol Sci, doi: 10.3390/ijms23147870.
(2022)
Nephrotic Syndrome Gene TBC1D8B Is Required for Endosomal Maturation and Nephrin Endocytosis in Drosophila.
J Am Soc Nephrol, doi: 10.1681/ASN.2022030275.
(2022)
Histone Deacetylases Cooperate with NF-KappaB to Support the Immediate Migratory Response after Zebrafish Pronephros Injury.
Int J Mol Sci, doi: 10.3390/ijms23179582.
(2022)
Evaluation of Deceased Donor Kidney Transplantation in the Eurotransplant Senior Program in Comparison to Standard Allocation.
Ann Transplant, doi: 10.12659/AOT.936514.
(2022)
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
J Clin Invest, doi: 10.1172/JCI161852. Erratum for: J Clin Invest. 2020 Jan 2;130(1):335-344. PMID: 35642643; PMCID: PMC9151686.
(2022)
Interstitial Nephritis: A Change in Diagnosis With Next-Generation Sequencing.
Kidney Int Rep, doi: 10.1016/j.ekir.2022.01.1061.
(2022)
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
Kidney Int Rep, doi: 10.1016/j.ekir.2022.05.035.
(2022)
Wildtype heterogeneity contributes to clonal variability in genome edited cells.
Sci Rep, doi: 10.1038/s41598-022-22885-8.
(2022)
Single Gene Mutations in Pkd1 or Tsc2 Alter Extracellular Vesicle Production and Trafficking.
Biology (Basel), doi: 10.3390/biology11050709.
(2022)
Stereotactic Body Radiotherapy for Renal Cell Carcinoma in Patients with Von Hippel-Lindau Disease-Results of a Prospective Trial.
Cancers (Basel), doi: 10.3390/cancers14205069.
(2022)
Mechanisms of CD8+ T-cell failure in chronic hepatitis E virus infection.
J Hepatol, doi: 10.1016/j.jhep.2022.05.019.
(2022)
Response to SARS-CoV-2 vaccines in patients receiving B-cell modulating antibodies for renal autoimmune disease.
BMC Infect Dis, doi: 10.1186/s12879-022-07722-7.
(2022)
Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components.
J Cell Sci, doi: 10.1242/jcs.259209.
(2022)
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.
Front Genet, doi: 10.3389/fgene.2022.861236.
(2022)
Publisher's Note: Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components.
J Cell Sci, doi: 10.1242/jcs.260203.
(2022)
Levosimendan in acute heart failure with severely reduced kidney function, a propensity score matched registry study.
Front Cardiovasc Med, doi: 10.3389/fcvm.2022.1027727.
(2022)
Tuning the 3D microenvironment of reprogrammed tubule cells enhances biomimetic modeling of polycystic kidney disease.
Biomaterials, Dec;291:121910. doi: 10.1016/j.biomaterials.2022.121910.
(2022)
VPS34-dependent control of apical membrane function of proximal tubule cells and nutrient recovery by the kidney.
Sci Signal, doi: 10.1126/scisignal.abo7940.
(2022)
Deep Learning-Assisted Nephrotoxicity Testing with Bioprinted Renal Spheroids.
Int J Bioprint, doi: 10.18063/ijb.v8i2.528.
(2021)
Loss of PKD1/polycystin-1 impairs lysosomal activity in a CAPN (calpain)-dependent manner
Autophagy, Sep;17(9):2384-2400. doi: 10.1080/15548627.2020.1826716.
(2021)
Precise variant interpretation, phenotype ascertainment and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial
Clin Genet, doi: 10.1111/cge.13861.
(2021)
SRGAP1 Controls Small Rho GTPases To Regulate Podocyte Foot Process Maintenance.
J Am Soc Nephrol, doi: 10.1681/ASN.2020081126.
(2021)
Nobel Prize 2020 in Chemistry honors CRISPR: a tool for rewriting the code of life.
Pflugers Arch, doi: 10.1007/s00424-020-02497-9.
(2021)
A novel mouse model of hyperuricemia expressing a human functional ABCG2 variant.
Kidney Int, doi: 10.1016/j.kint.2020.10.021.
(2021)
Xenopus epidermal and endodermal epithelia as models for mucociliary epithelial evolution, disease, and metaplasia.
Genesis, doi: 10.1002/dvg.23406.
(2021)
Single-cell mRNA profiling reveals changes in solute carrier expression and suggests a metabolic switch during zebrafish pronephros development.
Am J Physiol Renal Physiol., doi: 10.1152/ajprenal.00610.2020.
(2021)
Hypertensive Erkrankungen in der Schwangerschaft [Hypertensive Disorders in Pregnancy]
Dtsch Med Wochenschr, doi: 10.1055/a-1233-7685. [Article in German]
(2021)
EPB41L5 controls podocyte extracellular matrix assembly by adhesome-dependent force transmission
Cell Rep, doi: 10.1016/j.celrep.2021.108883.
(2021)
Therapy with lopinavir/ritonavir and hydroxychloroquine is associated with acute kidney injury in COVID-19 patients
PLoS One, doi: 10.1371/journal.pone.0249760.
(2021)
A Novel Model for Nephrotic Syndrome Reveals Associated Dysbiosis of the Gut Microbiome and Extramedullary Hematopoiesis
Cells, doi: 10.3390/cells10061509.
(2021)
Ruptured Intrarenal Arterial Aneurysm in a Patient With Granulomatosis With Polyangiitis
J Rheumatol, doi: 10.3899/jrheum.190986.
(2021)
Risk Factors and Management of Leukopenia After Kidney Transplantation: A Single-Center Experience
Transplant Proc, doi: 10.1016/j.transproceed.2021.04.011.
(2021)
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021
Am J Kidney Dis, doi: 10.1053/j.ajkd.2020.10.021.
(2021)
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation
Genet Med, doi: 10.1038/s41436-021-01127-8.
(2021)
Collagen IValpha345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases
J Biol Chem, doi: 10.1016/j.jbc.2021.100590.
(2021)
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
Kidney Int, doi: 10.1016/j.kint.2021.04.019.
(2021)
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
Brain, doi: 10.1093/brain/awab041.
(2021)
Genotype-phenotype correlation in von Hippel-Lindau disease
Acta Ophthalmol, doi: 10.1111/aos.14843.
(2021)
Signaling Control of Mucociliary Epithelia: Stem Cells, Cell Fates, and the Plasticity of Cell Identity in Development and Disease
Cells Tissues Organs, doi: 10.1159/000514579.
(2021)
The highly conserved FOXJ1 target CFAP161 is dispensable for motile ciliary function in mouse and Xenopus
Sci Rep, doi: 10.1038/s41598-021-92495-3.
(2021)
Identification of pathological transcription in autosomal dominant polycystic kidney disease epithelia.
Sci Rep, doi: 10.1038/s41598-021-94442-8.
(2021)
Ift88, but not Kif3a, is required for establishment of the periciliary membrane compartment.
Biochem Biophys Res Commun, doi: 10.1016/j.bbrc.2021.10.075.
(2021)
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
J Am Soc Nephrol, doi: 10.1681/ASN.2021030333.
(2021)
Correction to: The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Genet Med, doi: 10.1038/s41436-021-01283-x. Erratum for: Genet Med. 2021 Jul;23(7):1219-1224.
(2021)
Within-host evolution of SARS-CoV-2 in an immunosuppressed COVID-19 patient as a source of immune escape variants.
Nat Commun, doi: 10.1038/s41467-021-26602-3.
(2021)
Development of Nivolumab/Ipilimumab-Associated Autoimmune Nephritis during Steroid Therapy.
Case Rep Nephrol Dial, doi: 10.1159/000517502.
(2020)
The acetyltransferase p300 regulates NRF2 stability and localization
Biochem Biophys Res Commun, doi: 10.1016/j.bbrc.2020.02.006.
(2020)
Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans
Nat Genet, doi: 10.1038/s41588-019-0567-8.
(2020)
Divergent function of polycystin 1 and polycystin 2 in cell size regulation
Biochem Biophys Res Commun, Jan 8;521(2):290-295. doi: 10.1016/j.bbrc.2019.10.074.
(2020)
Tubular STAT3 Limits Renal Inflammation in Autosomal Dominant Polycystic Kidney Disease
J Am Soc Nephrol, May;31(5):1035-1049. doi: 10.1681/ASN.2019090959. Epub 2020 Apr 1. PMID: 32238474; PMCID: PMC7217419.
(2020)
A molecular mechanism explaining albuminuria in kidney disease
Nat Metab, doi: 10.1038/s42255-020-0204-y.
(2020)
Clinical decision making in small non-functioning VHL-related incidentalomas
Endocr Connect, doi: 10.1530/EC-20-0208.
(2020)
Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules
Sci Rep, doi: 10.1038/s41598-020-72905-8.
(2020)
Subcutaneous Enoxaparin Safely Facilitates Bedside Sustained Low-Efficiency Hemodialysis in Hypercoagulopathic Coronavirus Disease 2019 Patients-A Proof-of-Principle Trial
Crit Care Explor, doi: 10.1097/CCE.0000000000000155.
(2020)
Long-term Follow-up of ABO-Incompatible Kidney Transplantation in Freiburg, Germany: A Single-Center Outcome Report
Transplant Proc, doi: 10.1016/j.transproceed.2020.09.001.
(2020)
Eculizumab in chemotherapy-induced thrombotic microangiopathy
Clin Nephrol Case Stud, doi: 10.5414/CNCS109836.
(2020)
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
Genet Med, doi: 10.1038/s41436-020-0816-3.
(2020)
Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia
Clin Endocrinol (Oxf), doi: 10.1111/cen.14267.
(2020)
Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment
Kidney Int, doi: 10.1016/j.kint.2020.05.027.
(2020)
[Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies] [Article in German]
Klin Padiatr, doi: 10.1055/a-1179-0728.
(2020)
Eomes cannot replace its paralog T-bet during expansion and differentiation of CD8 effector T cells
PLoS Pathog, doi: 10.1371/journal.ppat.1008870.
(2020)
Deciphering the regulatory landscape of fetal and adult Gamma Delta T-cell development at single-cell resolution
EMBO J, doi: 10.15252/embj.2019104159.
(2020)
Single-cell RNA-sequencing identifies the developmental trajectory of C-Myc-dependent NK1.1 - T-bet + intraepithelial lymphocyte precursors
Mucosal Immunol, doi: 10.1038/s41385-019-0220-y.
(2020)
The GID ubiquitin ligase complex is a regulator of AMPK activity and organismal lifespan
Autophagy, doi: 10.1080/15548627.2019.1695399.
(2020)
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Am J Hum Genet, doi: 10.1016/j.ajhg.2020.08.013.
(2020)
Comparison of different anticoagulation strategies for renal replacement therapy in critically ill patients with COVID-19: a cohort study.
BMC Nephrol, doi: 10.1186/s12882-020-02150-8.
(2020)
Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
Hum Mutat, doi: 10.1002/humu.24127.
(2020)
Group 3 Innate Lymphoid Cells Program a Distinct Subset of IL-22BP-Producing Dendritic Cells Demarcating Solitary Intestinal Lymphoid Tissues.
Immunity, doi: 10.1016/j.immuni.2020.10.012.
(2020)
Notch signaling induces either apoptosis or cell fate change in multiciliated cells during mucociliary tissue remodeling.
Dev Cell, doi: 10.1016/j.devcel.2020.12.005.
(2020)
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet, doi: 10.1016/j.ajhg.2020.11.008.
(2020)
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
Kidney Int Rep, doi: 10.1016/j.ekir.2020.10.040.
(2019)
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.
Nat Rev Nephrol, doi: 10.1038/s41581-019-0155-2
(2019)
Metabolic perturbations caused by depletion of nephronophthisis factor Anks6 in mIMCD3 cells.
Metabolomics 15, 71
(2019)
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Kidney Int doi: 10.1016/j.kint.2019.01.038
(2019)
Interferon-lambda enhances adaptive mucosal immunity by boosting release of thymic stromal lymphopoietin.
Nat Immunol 20, 593-601
(2019)
ERAP1 allotypes shape the epitope repertoire of virus-specific CD8+ T cell responses in acute hepatitis C virus infection.
J Hepatol 70, 1072-1081
(2019)
Kidney embolization induces prompt organ response in a 86-year-old patient with MGRS-related AL-amyloidosis.
Hemodial Int 23, E59-E64
(2019)
Fabrication of Kidney Proximal Tubule Grafts Using Biofunctionalized Electrospun Polymer Scaffolds.
Macromol Biosci 19, e1800412
(2019)
Early and Severe Polycystic Kidney Disease and Related Ciliopathies: An Emerging Field of Interest.
Nephron 141, 50-60
(2019)
GFR estimation in lenalidomide treatment of multiple myeloma patients: a prospective cohort study.
Clin Exp Nephrol 23, 199-206
(2019)
DeltaN-Tp63 Mediates Wnt/beta-Catenin-Induced Inhibition of Differentiation in Basal Stem Cells of Mucociliary Epithelia
Cell Rep, doi: 10.1016/j.celrep.2019.08.063.
(2019)
Context Dependent Role of Type 2 Innate Lymphoid Cells in Allergic Skin Inflammation
Front Immunol, doi: 10.3389/fimmu.2019.02591.
(2018)
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.
J Natl Cancer Inst 110, 1328-1341
(2018)
HIF-1alpha drives cyst growth in advanced stages of autosomal dominant polycystic kidney disease.
Kidney Int 94, 849-851
(2018)
Na+/H+ Exchangers Are Required for the Development and Function of Vertebrate Mucociliary Epithelia.
Cells Tissues Organs 205, 279-292
(2018)
Manipulating and Analyzing Cell Type Composition of the Xenopus Mucociliary Epidermis.
Methods Mol Biol 1865, 251-263
(2018)
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.
J Biol Chem 293, 15243-15255
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Diverging impact of cell fate determinants Scrib and Llgl1 on adhesion and migration of hematopoietic stem cells.
J Cancer Res Clin Oncol 144, 1933-1944
(2018)
The mitochondrial transporter SLC25A25 links ciliary TRPP2 signaling and cellular metabolism.
PLoS Biol 16, e2005651
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Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Eur J Hum Genet 26, 1791-1796
(2018)
ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.
Mol Biol Cell 29, 2156-2164
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GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome.
J Am Soc Nephrol 29, 2123-2138
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A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes.
Cell Rep 23, 2495-2508
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Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease.
J Pediatr 199, 22-28.e6
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Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Hum Mutat 39, 983-992
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CGEF-1 regulates mTORC1 signaling during adult longevity and stress response in C. elegans.
Oncotarget 9, 9581-9595
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Metabolic characterization of directly reprogrammed renal tubular epithelial cells (iRECs).
Sci Rep 8, 3878
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Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses.
Front Pediatr 5, 221
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Cast Nephropathy and Deceptively Low Absolute Serum Free Light Chain Levels: Resolution of a Challenging Case and Systematic Review of the Literature.
Clin Lymphoma Myeloma Leuk 18, e1-e7
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A committed postselection precursor to natural TCRalphabeta+ intraepithelial lymphocytes.
Mucosal Immunol 11, 333-344
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Associations between genetic risk variants for kidney diseases and kidney disease etiology.
Sci Rep 7, 13944
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TRPP2 ion channels: Critical regulators of organ morphogenesis in health and disease.
Cell Calcium 66, 25-32
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N-Degradomic Analysis Reveals a Proteolytic Network Processing the Podocyte Cytoskeleton.
J Am Soc Nephrol 28, 2867-2878
(2017)
A dual-fluorescence reporter in the Eomes locus for live imaging and medium-term lineage tracing.
Genesis 55, doi: 10.1002/dvg.23043
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Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism
J Clin Invest 127, 2612-2625.
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From genetics to personalized nephrology: kidney research at a tipping point.
Cell Tissue Res 369, 1-4
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Engineering kidney cells: reprogramming and directed differentiation to renal tissues.
Cell Tissue Res 369, 185-197
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The FERM protein EPB41L5 regulates actomyosin contractility and focal adhesion formation to maintain the kidney filtration barrier.
Proc Natl Acad Sci U S A 114, E4621-E4630
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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease
Nat Genet 49, 1025-1034.
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The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase epsilon
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Genetic kidney diseases: Caenorhabditis elegans as model system.
Cell Tissue Res 369, 105-118
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EpCAM controls morphogenetic programs during zebrafish pronephros development.
Biochem Biophys Res Commun 487, 209-215
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New Insights into Podocyte Biology in Glomerular Health and Disease.
J Am Soc Nephrol 28, 1707-1715
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YAP-mediated mechanotransduction determines the podocyte's response to damage.
Sci Signal 10, doi: 10.1126/scisignal.aaf8165
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A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.
J Am Soc Nephrol 28, 2364-2376
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Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease
Front Pediatr 5, 18.
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NorUrsodeoxycholic acid ameliorates cholemic nephropathy in bile duct ligated mice.
J Hepatol 67, 110-119
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The long journey through renal filtration: new pieces in the puzzle of slit diaphragm architecture.
Curr Opin Nephrol Hypertens 26, 148-153
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The use of urinary proteomics in the assessment of suitability of mouse models for ageing.
PLoS One 12, e0166875
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Efficient genome editing of differentiated renal epithelial cells.
Pflugers Arch 469, 303-311
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Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte.
J Am Soc Nephrol 28, 1521-1533
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Absence of miR-146a in Podocytes Increases Risk of Diabetic Glomerulopathy via Up-regulation of ErbB4 and Notch-1.
J Biol Chem 292, 732-747
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Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies.
Nephrol Dial Transplant 32, 325-332
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mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells.
J Am Soc Nephrol 28, 230-241
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Direct reprogramming of fibroblasts into renal tubular epithelial cells by defined transcription factors.
Nat Cell Biol 18, 1269-1280
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Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin
BMC Med Genet 17, 73.
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MAGI-1 Interacts with Nephrin to Maintain Slit Diaphragm Structure through Enhanced Rap1 Activation in Podocytes.
J Biol Chem 291, 24406-24417
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Cell cycle controls stress response and longevity in C. elegans.
Aging (Albany NY) 8, 2100-2126
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Successful Management of Calciphylaxis in a Kidney Transplant Patient: Case Report.
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Enhanced exercise and regenerative capacity in a mouse model that violates size constraints of oxidative muscle fibres.
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Local TNF causes NFATc1-dependent cholesterol-mediated podocyte injury.
J Clin Invest 126, 3336-50
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Roles of mTOR complexes in the kidney: implications for renal disease and transplantation.
Nat Rev Nephrol 12, 587-609
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A flexible, multilayered protein scaffold maintains the slit in between glomerular podocytes.
JCI Insight 1, doi: 10.1172/jci.insight.86177
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ANKS3 is mutated in a family with autosomal recessive laterality defect.
Hum Genet 135, 1233-1239
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MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum
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[Hemolytic kidney failure and transient ischemic attack in a 32-year-old female]
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Renal Atp6ap2/(Pro)renin Receptor Is Required for Normal Vacuolar H+-ATPase Function but Not for the Renin-Angiotensin System.
J Am Soc Nephrol 27, 3320-3330
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Targeted rescue of a polycystic kidney disease mutation by lysosomal inhibition.
Kidney Int 89, 949-55
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How Is Proteinuric Diabetic Nephropathy Caused by Disturbed Proteostasis and Autophagy in Podocytes?
Diabetes 65, 539-41
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C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies
Ophthalmic Genet 37, 290-3.
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The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes.
Hum Mol Genet 25, 1328-44
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Discontinuation of Eculizumab in a Patient With Atypical Hemolytic Uremic Syndrome Due to a Mutation in CFH
Am J Kidney Dis 67, 532-3.
(2016)
The Rapamycin-Sensitive Complex of Mammalian Target of Rapamycin Is Essential to Maintain Male Fertility.
Am J Pathol 186, 324-36
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One hundred ABO-incompatible kidney transplantations between 2004 and 2014: a single-centre experience.
Nephrol Dial Transplant 31, 663-71
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Nephrin Contributes to Insulin Secretion and Affects Mammalian Target of Rapamycin Signaling Independently of Insulin Receptor.
J Am Soc Nephrol 27, 1029-41
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MOF maintains transcriptional programs regulating cellular stress response.
Oncogene 35, 2698-710
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The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product.
Eur J Hum Genet 24, 774-8
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Secreted frizzled-related protein 4 predicts progression of autosomal dominant polycystic kidney disease.
Nephrol Dial Transplant 31, 284-9
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A Cilia Independent Role of Ift88/Polaris during Cell Migration
PloS One 10, e0140378- e0140378
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Physical function, hyperuricemia and gout in older adults enrolled in the atherosclerosis risk in communities cohort study
Arthritis Care Res, doi: 10.1002/acr.22648
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Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation
Br J Ophtalmol, pii: bjophthalmol-2015-306844
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Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study
BMC Genet 16, doi: 10.1186/s12863-015-0219-7
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Transcriptional regulator PRDM12 is essential for human pain perception
Nat Genet 47, 803-808
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Genomic imbalances in pediatric patients with chronic kidney disease
J Clin Invest 125, 2171-2178
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Rationale, design and objectives of ARegPKD, a European ARPKD registry study
BMC Nephrol, doi: 10.1186/s12882-015-0002-z
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Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1
Clin J Am Soc Nephrol, 10, 825-831
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Modulation of genetic associations with serum urate levels by body-mass-index in humans
PLos One 10, e0119752
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
Eur J Hum Genet, doi: 10.1038/ejhg.2015.57
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Thrombospondin type-1 domain-containing 7A in idiopathic membranous nephropathy
N Engl J Med 372, 1073
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An endogenous nanomineral chaperones luminal antigen and peptidoglycan to intestinal immune cells
Nat Nanotechnol 10, 361-369
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TSC1 Activates TGF-beta-Smad2/3 Signaling in Growth Arrest and Epithelial-to-Mesenchymal Transition
Dev Cell 32, 617-30
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A Genetic Risk Score for Thyroid Peroxidase Antibodies Associates with Clinical Thyroid Disease in Community-Based Populations
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Plasma Urate and Risk of a Hospital Stay with AKI: The Atherosclerosis Risk in Communities Study
Clin J Am Soc Nephrol
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New insights into mechanisms of glomerular injury and repair from the 10th International Podocyte Conference
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Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells
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Anks3 interacts with nephronophthisis proteins and is required for normal renal development
Kidney Int, doi: 10.1038/ki.2015.17
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An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease
PLoS One 10, e0116680
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The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin
Development 142, 174-84
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Genome-wide association study of kidney function decline in individuals of European descent
Kidney Int 87, 1017-1029
(2015)
A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations
Ophthalmic Genet 36, 79-84
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Genome-wide association studies in nephrology: using known associations for data checks
Am J Kidney Dis 65, 217-22
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Prevalence and correlates of gout in a large cohort of patients with chronic kidney disease: the German Chronic Kidney Disease (GCKD) study
Nephrol Dial Transplant 30, 613-621
(2015)
Disease burden and risk profile in referred patients with moderate chronic kidney disease: composition of the German Chronic Kidney Disease (GCKD) cohor
Nephrol Dial Transplant 30, 441-51
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ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies
Pediatr Nephrol 30, 15-30
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The Future of Polycystic Kidney Disease Research-As Seen By the 12 Kaplan Awardees
J Am Soc Nephrol, Ahead of print
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SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7
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Autosomal dominant polycystic kidney disease: the changing face of clinical management
Lancet 385, 1993-2002
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Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD)
Clin Nephrol 83, 297-300
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Heart failure in a cohort of patients with chronic kidney disease: the GCKD study
PLoS One, doi: 10.1371/journal.pone.0122552
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Secreted frizzled-related protein 4 predicts progression of autosomal dominant polycystic kidney disease
Nephrol Dial Transplant, ahead of print
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The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells
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Effect of everolimus on polycystic liver volume in autosomal dominant polycystic kidney disease
Clin Exp Nephrol, ahead of print
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Crystal structures of IFT70/52 and IFT52/46 provide insight into intraflagellar transport B core complex assembly
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A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula
Br J Ophthalmol, doi: 10.1136/bjophthalmol-2014-305836
(2014)
Building a network of ADPKD reference centres across Europe: the EuroCYST initiative
Nephrol Dial Transplant 29, Suppl 4, iv26-32
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Tectonic gene mutations in patients with Joubert syndrome
Eur J Hum Genet, doi: 10.1038/ejhg.2014.160
(2014)
Transcriptional complexity in autosomal recessive polycystic kidney disease
Clin J Am Soc Nephrol 9, 1729-36
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Casein Kinase 1 alpha Phosphorylates the Wnt Regulator Jade-1 and Modulates Its Activity
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(2014)
mTORC2-SGK-1 acts in two environmentally responsive pathways with opposing effects on longevity
Aging Cell 13, 869-78
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Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus")
Pediatr Ophthalmol Strabismus 51, e51-4
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Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations
BMC Genet 15, 81
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mTORC1 maintains renal tubular homeostasis and is essential in response to ischemic stress
Proc Natl Acad Sci USA 111, E2817-26
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Hantavirus infection with severe proteinuria and podocyte foot-process effacement
Am J Kidney Dis 64, 452-456
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Kinesin-2 mediates apical endosome transport during epithelial lumen formation
Cell Logist 4(1), e28928. Epub 2014 May 6.
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Eculizumab as first-line therapy for atypical hemolytic uremic syndrome
Pediatrics 133, e1759-63
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N-glycosylation determines the abundance of the transient receptor potential channel TRPP2
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Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis
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Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy
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Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation
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Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness
Hum Mutat 35, 565-70
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Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD
J Am Soc Nephrol 25, 1653-61
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Transcription factors controlling development and function of innate lymphoid cells
Int Immunol 26, 119-128
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Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies
Pediatr Nephrol 29, 1451-6
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Interaction with the Bardet-Biedl Gene Product TRIM32/BBS11 Modifies the Half-life and Localization of Glis2/NPHP7
J Biol Chem 289, 8390-401.
(2014)
mTOR controls kidney epithelia in health and disease
Nephrol Dial Transplant 29, Suppl 1, i9-i18
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Lysine-specific demethylase 1 regulates differentiation onset and migration of trophoblast stem cells
Nat Commun 5, 3174.
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Unraveling the Role of Podocyte Turnover in Glomerular Aging and Injury
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Cortical and clonal contribution of Tbr2 expressing progenitors in the developing mouse brain
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The Transcription Factor T-bet Is Induced by IL-15 and Thymic Agonist Selection and Controls CD8 alpha alpha(+) Intraepithelial Lymphocyte DevelopmentInduction of T-bet
Immunity 41, 230-243
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Out-of-frame start codons prevent translation of truncated nucleo-cytosolic cathepsin L in vivo
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Anthracyclines induce DNA damage response-mediated protection against severe sepsis
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Def-6, a novel regulator of small GTPases in podocytes, acts downstream of atypical protein kinase C (aPKC) lambda/iota
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Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations
PLoS Genet 9, e1003796.
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AKT2 is essential to maintain podocyte viability and function during chronic kidney disease
Nat Med 19, 1288-96.
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First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations
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Common variants in Mendelian kidney disease genes and their association with renal function
J Am Soc Nephrol 24, 2105-17.
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The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly
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Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease
J Am Soc Nephrol 24, 1507-9
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The podocyte slit diaphragm--from a thin grey line to a complex signalling hub
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TORC2 signaling antagonizes SKN-1 to induce C. elegans mesendodermal embryonic development
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Inhibition of mTORC1 by astrin and stress granules prevents apoptosis in cancer cells
Cell 154, 859-74.
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Proteinuria impairs podocyte regeneration by sequestering retinoic acid
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The effect of common uromodulin variants on urinary protein level and gene transcription
Kidney Int 84, 410-1.
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Generation and characterization of a tamoxifen-inducible Eomes(CreER) mouse line
Genesis 51, 725-33.
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Ruptured Cerebral Aneurysm and Acute Bilateral Carotid Artery Dissection in a Patient with Polycystic Kidney Disease and Polycystic Liver Disease
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Successful treatment of the postpartum atypical hemolytic uremic syndrome with eculizumab
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ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
Nat Genet 45, 951-6.
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Metabolites associate with kidney function decline and incident chronic kidney disease in the general population
Nephrol Dial Transplant 28, 2131-8.
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Evolving importance of kidney disease: from subspecialty to global health burden
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Kif3a guides microtubular dynamics, migration and lumen formation of MDCK cells
PLoS One 8, e62165.
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A de novo GLI3 mutation in a patient with acrocallosal syndrome
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Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome
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Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate
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Autosomal-recessive polycystic kidney disease gets more complex
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Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules
Proc Natl Acad Sci U S A 110, 5223-8
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Vps34 deficiency reveals the importance of endocytosis for podocyte homeostasis
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Comprehensive analysis of glomerular mRNA expression of pro- and antithrombotic genes in atypical haemolytic-uremic syndrome (aHUS)
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Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium
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Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression
Hum Mol Genet 22, 2177-85.
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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
Hum Mutat 34, 714-24.
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Molecular fingerprinting of the podocyte reveals novel gene and protein regulatory networks
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[Diagnosis, course and treatment of autosomal dominant polycystic kidney disease]
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Comparison of serum concentrations of beta-trace protein, beta2-microglobulin, cystatin C, and creatinine in the US population
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aPKClambda/iota and aPKCzeta contribute to podocyte differentiation and glomerular maturation
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Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
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Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia
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Cell loss and autophagy in the extra-adrenal chromaffin organ of Zuckerkandl are regulated by glucocorticoid signalling
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A urate gene-by-diuretic interaction and gout risk in participants with hypertension: results from the ARIC study
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Extended mutation spectrum of Usher syndrome in Finland
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Diagnostic applications of next generation sequencing - working towards quality standards
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COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9
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Is podocyte research at a tipping point? Report from the 9(th) International Podocyte Conference
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The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ
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Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function
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Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
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Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing
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Autophagy plays a critical role in kidney tubule maintenance, aging and ischemia-reperfusion injury
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Genome-wide association and functional follow-up reveals new loci for kidney function
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A dynamic network model of mTOR signaling reveals TSC-independent mTORC2 regulation
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Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome (under review).
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Mutations in multiple PKD genes may explain early and severe polycystic kidney disease
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Genetic association for renal traits among participants of African ancestry reveals new loci for renal function
PLoS Genet 7, e1002264.
(2011)
Preschoolers' comprehension of pronouns and reflexives: the impact of the task
J Child Lang, 1-27.
(2011)
CD2AP in mouse and human podocytes controls a proteolytic program that regulates cytoskeletal structure and cellular survival
J Clin Invest 121, 3965-80.
(2011)
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
Nature 478, 103-9.
(2011)
Age-related penetrance of hereditary atypical hemolytic uremic syndrome
Ann Hum Genet 75, 639-47.
(2011)
Human tumor-induced and naturally occurring Treg cells differentially affect NK cells activated by either IL-2 or target cells
Eur J Immunol 41, 3564-73.
(2011)
Inhibition of glycogen synthase kinase 3beta induces dermal fibrosis by activation of the canonical Wnt pathway
Ann Rheum Dis 70, 2191-8.
(2011)
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies
Kidney Int 80, 1239-45.
(2011)
The T-box transcription factor Eomesodermin acts upstream of Mesp1 to specify cardiac mesoderm during mouse gastrulation
Nat Cell Biol 13, 1084-91.
(2011)
Local inhibition of angiogenesis results in an atrophic non-union in a rat osteotomy model
Eur Cell Mater 22, 1-11.
(2011)
The BAR domain protein PICK1 regulates cell recognition and morphogenesis by interacting with Neph proteins
Mol Cell Biol 31, 3241-51.
(2011)
Drosophila sperm swim backwards in the female reproductive tract and are activated via TRPP2 ion channels
PLoS One 6, e20031.
(2011)
Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites
J Clin Endocrinol Metab 96, E1279-82.
(2011)
mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice
J Clin Invest 121, 2181-96.
(2011)
Role of mTOR in podocyte function and diabetic nephropathy in humans and mice
J Clin Invest 121, 2197-209.
(2011)
Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish
Hum Mol Genet 20, 3119-28.
(2011)
Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma
Genes Chromosomes Cancer 50, 654-61.
(2011)
High-normal albuminuria and risk of heart failure in the community
Am J Kidney Dis 58, 47-55.
(2011)
Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient
J Pediatr Endocrinol Metab 24, 109-12.
(2011)
Obesity and younger age at gout onset in a community-based cohort
Arthritis Care Res (Hoboken) 63, 1108-14.
(2011)
Dendritic cell generation and CD4+ CD25high FOXP3+ regulatory t cells in human head and neck carcinoma during radio-chemotherapy
Eur J Med Res 16, 57-62.
(2011)
[Hemicentral retinal artery occlusion due to oral contraceptives]
Klin Monbl Augenheilkd 228, 729-33.
(2011)
The MYH9/APOL1 region and chronic kidney disease in European-Americans
Hum Mol Genet 20, 2450-6.
(2011)
The role of proton transporters in epithelial Wnt signaling pathways
Pediatr Nephrol 26, 1523-7.
(2011)
Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia
J Biol Chem 286, 14237-45.
(2011)
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy
N Engl J Med 364, 616-26.
(2011)
Synthesis of novel tricalcium phosphate-bioactive glass composite and functionalization with rhBMP-2
J Mater Sci Mater Med 22, 763-71.
(2011)
Lower urinary connective tissue growth factor levels and incident CKD stage 3 in the general population
Am J Kidney Dis 57, 841-9.
(2011)
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Nat Genet 43, 189-96.
(2011)
Pluripotency factors regulate definitive endoderm specification through eomesodermin
Genes Dev 25, 238-50.
(2011)
GSK3beta inactivation in podocytes results in decreased phosphorylation of p70S6K accompanied by cytoskeletal rearrangements and inhibited motility
Am J Physiol Renal Physiol 300, F1152-62.
(2011)
Laparoscopic organ-sparing resection of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors
World J Surg 35, 563-7.
(2011)
mTOR and rapamycin in the kidney: signaling and therapeutic implications beyond immunosuppression
Kidney Int 79, 502-11.
(2011)
Strangers on a train: atypical glutamate receptors in the kidney glomerulus. Focus on "Functional NMDA receptors with atypical properties are expressed in podocytes"
Am J Physiol Cell Physiol 300, C9-10.
(2011)
Strangers on a train: atypical glutamate receptors in the kidney glomerulus. Focus on "Functional NMDA receptors with atypical properties are expressed in podocytes"
Am J Physiol Cell Physiol 300, C9-10
(2011)
Rapidly progressive hepatic alveolar echinococcosis in an ABO-incompatible renal transplant recipient
Transpl Infect Dis 13, 278-84.
(2011)
Race differences in access to health care and disparities in incident chronic kidney disease in the US
Nephrol Dial Transplant 26, 899-908.
(2011)
Chromogranin A as potential target for immunotherapy of malignant pheochromocytoma
Mol Cell Endocrinol 335, 69-77.
(2011)
Genitopatellar syndrome, sensorineural hearing loss, and cleft palate
Oral Maxillofac Surg 15, 103-6.
(2011)
mTOR inhibitors and autosomal dominant polycystic kidney disease (authors reply)
N Engl J Med 364, 287-288.
(2010)
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction
Nat Genet 42, 1068-76.
(2010)
Inversin relays Frizzled-8 signals to promote proximal pronephros development
Proc Natl Acad Sci U S A 107, 20388-93.
(2010)
Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors
Circ Cardiovasc Genet 3, 523-30.
(2010)
Common variants at 10 genomic loci influence hemoglobin A(1)(C) levels via glycemic and nonglycemic pathways
Diabetes 59, 3229-39.
(2010)
Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose
Genet Epidemiol 34, 665-73.
(2010)
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Nat Genet 42, 840-50.
(2010)
Correlates of kidney stone disease differ by race in a multi-ethnic middle-aged population: the ARIC study
Prev Med 51, 416-20.
(2010)
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels
Hum Mol Genet 19, 4296-303.
(2010)
Phaeochromocytoma and thrombotic microangiopathy: favourable outcome despite advanced renal failure
J Clin Pathol 63, 754-6.
(2010)
Systematic comparison of sporadic and syndromic pancreatic islet cell tumors
Endocr Relat Cancer 17, 875-83.
(2010)
Everolimus in patients with autosomal dominant polycystic kidney disease
N Engl J Med 363, 830-40.
(2010)
Regulation of Frizzled-dependent planar polarity signaling by a V-ATPase subunit
Curr Biol 20, 1269-76.
(2010)
Common genetic variants associate with serum phosphorus concentration
J Am Soc Nephrol 21, 1223-32.
(2010)
[Machina Machinarum. The clock as a concept and metaphor between 1450 and 1750]
Early Sci Med 15, 122-91.
(2010)
Long-term outcome of ABO-incompatible living donor kidney transplantation based on antigen-specific desensitization. An observational comparative analysis
Nephrol Dial Transplant 25, 3778-86.
(2010)
The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people
Rheumatology (Oxford) 49, 1461-5.
(2010)
Differential role of Rab proteins in ciliary trafficking: Rab23 regulates smoothened levels
J Cell Sci 123, 1460-7.
(2010)
A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis
Hum Mol Genet 19, 2347-59.
(2010)
Essentials and pitfalls in the treatment of CNS hemangioblastomas and von Hippel-Lindau disease
Cen Eur Neurosurg 71, 80-7.
(2010)
Autophagy influences glomerular disease susceptibility and maintains podocyte homeostasis in aging mice
J Clin Invest 120, 1084-96.
(2010)
Prevalence of kidney disease in anaemia differs by GFR-estimating method: the Third National Health and Nutrition Examination Survey (1988-94)
Nephrol Dial Transplant 25, 2542-8.
(2010)
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge
Nat Genet 42, 142-8.
(2010)
Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome
Ann Hum Genet 74, 17-26.
(2010)
Identification of a Protein Kinase C-dependent phosphorylation site involved in sensitization of TRPV4 channel
Biochem Biophys Res Commun 391, 1721-5.
(2010)
Uromodulin levels associate with a common UMOD variant and risk for incident CKD
J Am Soc Nephrol 21, 337-44.
(2010)
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome
J Clin Endocrinol Metab 95, 308-13.
(2010)
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation
Hum Mol Genet 19, 16-24.
(2009)
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
Nat Genet 41, 1191-8.
(2009)
Generation and analysis of a mouse line harboring GFP in the Eomes/Tbr2 locus
Genesis 47, 775-81.
(2009)
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients
Clin Cancer Res 15, 6378-85.
(2009)
Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome
J Clin Endocrinol Metab 94, 4367-71.
(2009)
Blimp-1/Prdm1 alternative promoter usage during mouse development and plasma cell differentiation
Mol Cell Biol 29, 5813-27.
(2009)
Leflunomide therapy for polyomavirus-induced allograft nephropathy: efficient BK virus elimination without increased risk of rejection
Transplant Proc 41, 2533-8.
(2009)
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry
Nat Genet 41, 879-81.
(2009)
The planar cell polarity (PCP) protein Diversin translocates to the nucleus to interact with the transcription factor AF9
Biochem Biophys Res Commun 387, 212-7.
(2009)
Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A
Eur J Clin Invest 39, 828-32.
(2009)
Defining incident chronic kidney disease in the research setting: The ARIC Study
Am J Epidemiol 170, 414-24.
(2009)
Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout
Proc Natl Acad Sci U S A 106, 10338-42.
(2009)
Kidney function estimated from serum creatinine and cystatin C and peripheral arterial disease in NHANES 1999-2002
Eur Heart J 30, 1918-25.
(2009)
Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development
Proc Natl Acad Sci U S A 106, 8579-84.
(2009)
Multiple loci associated with indices of renal function and chronic kidney disease
Nat Genet 41, 712-7.
(2009)
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
J Clin Endocrinol Metab 94, 1938-44.
(2009)
A short carboxy-terminal domain of polycystin-1 reorganizes the microtubular network and the endoplasmic reticulum
Exp Cell Res 315, 1157-70.
(2009)
Common variants at ten loci modulate the QT interval duration in the QTSCD Study
Nat Genet 41, 407-14.
(2009)
Loss of podocyte aPKClambda/iota causes polarity defects and nephrotic syndrome
J Am Soc Nephrol 20, 798-806.
(2009)
[Disseminated histoplasmosis with involvement of mediastinum and skin in an immunocompetent patient]
Dtsch Med Wochenschr 134, 589-93.
(2009)
Combination of immunosuppressive drugs leaves specific "fingerprint" on gene expression in vitro
Immunopharmacol Immunotoxicol 31, 283-92.
(2009)
TRPP2 channels regulate apoptosis through the Ca2+ concentration in the endoplasmic reticulum
EMBO J 28, 490-9.
(2009)
Making a commitment: cell lineage allocation and axis patterning in the early mouse embryo
Nat Rev Mol Cell Biol 10, 91-103.
(2009)
When should genetic testing be obtained in a patient with phaeochromocytoma or paraganglioma?
Clin Endocrinol (Oxf) 70, 354-7.
(2009)
Tyrosine phosphorylation modulates the activity of TRPV4 in response to defined stimuli
J Biol Chem 284, 2923-33.
(2009)
ABO-incompatible kidney transplantation with antigen-specific immunoadsorption and rituximab - insights and uncertainties
Contrib Nephrol 162, 47-60.
(2009)
Increased expression of secreted frizzled-related protein 4 in polycystic kidneys
J Am Soc Nephrol 20, 48-56.
(2008)
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study
Lancet 372, 1953-61.
(2008)
HbA 1c as a risk factor for heart failure in persons with diabetes: the Atherosclerosis Risk in Communities (ARIC) study
Diabetologia 51, 2197-204.
(2008)
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1
J Clin Endocrinol Metab 93, 4818-25.
(2008)
Age, gender, and race effects on cystatin C levels in US adolescents
Clin J Am Soc Nephrol 3, 1777-85.
(2008)
[Fabry disease - complex clinical picture, simple diagnosis procedure, causal treatment]
Dtsch Med Wochenschr 133, 1965-72; quiz 1973-4.
(2008)
The T-box transcription factor Eomes/Tbr2 regulates neurogenesis in the cortical subventricular zone
Genes Dev 22, 2479-84.
(2008)
Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation
Endocr Relat Cancer 15, 1035-41.
(2008)
Genetic and physical interaction between the NPHP5 and NPHP6 gene products
Hum Mol Genet 17, 3655-62.
(2008)
Planar cell polarity signaling: from fly development to human disease
Annu Rev Genet 42, 517-40.
(2008)
TCF7L2 variants associate with CKD progression and renal function in population-based cohorts
J Am Soc Nephrol 19, 1989-99.
(2008)
Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity
J Biol Chem 283, 23033-8.
(2008)
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
Genes Dev 22, 1465-77.
(2008)
Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma
Endocr Relat Cancer 15, 777-86.
(2008)
Nesprin-2 Giant (NUANCE) maintains nuclear envelope architecture and composition in skin
J Cell Sci 121, 1887-98.
(2008)
Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction?
J Clin Endocrinol Metab 93, 1573-5.
(2008)
Serum cystatin C in the United States: the Third National Health and Nutrition Examination Survey (NHANES III)
Am J Kidney Dis 51, 385-94.
(2008)
Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation
Nat Clin Pract Endocrinol Metab 4, 111-5.
(2008)
Podocytes use FcRn to clear IgG from the glomerular basement membrane
Proc Natl Acad Sci U S A 105, 967-72.
(2008)
Molecular characterisation of a common SDHB deletion in paraganglioma patients
J Med Genet 45, 233-8.
(2008)
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
Hum Mutat 29, 45-52.
(2007)
Kidney injury molecule 1 (Kim1) is a novel ciliary molecule and interactor of polycystin 2
Biochem Biophys Res Commun 364, 861-6.
(2007)
Preemptive postoperative antigen-specific immunoadsorption in ABO-incompatible kidney transplantation: necessary or not?
Transplantation 84, S40-3.
(2007)
Blimp1 regulates development of the posterior forelimb, caudal pharyngeal arches, heart and sensory vibrissae in mice
Development 134, 4335-45.
(2007)
Quiz page December 2007: diarrhea and anuria in a recipient of an en bloc infant kidney transplant
Am J Kidney Dis 50, A41-3.
(2007)
Nephrogenic systemic fibrosis following exposure to gadolinium-containing contrast agent
Clin Nephrol 68, 249-52.
(2007)
OS-9 regulates the transit and polyubiquitination of TRPV4 in the endoplasmic reticulum
J Biol Chem 282, 36561-70.
(2007)
Evidence of MEN-2 in the original description of classic pheochromocytoma
N Engl J Med 357, 1311-5.
(2007)
cDNA microarray analysis of adaptive changes after renal ablation in a sclerosis-resistant mouse strain
Kidney Blood Press Res 30, 377-87.
(2007)
Successful liver transplantation in a kidney and pancreas allograft recipient with fulminant herpes simplex virus type 2 hepatitis
Nephrol Dial Transplant 22, 3334-7.
(2007)
Quiz page. Renal AA amyloidosis with vascular predominance, secondary to rheumatoid arthritis
Am J Kidney Dis 49, A49-50.
(2007)
Quiz page. Minimal change glomerulonephritis associated with secondary syphilis
Am J Kidney Dis 49, A49-50.
(2007)
On-demand strategy as an alternative to conventionally scheduled post-transplant immunoadsorptions after ABO-incompatible kidney transplantation
Nephrol Dial Transplant 22, 3048-51.
(2007)
[Fabry disease: demographic data since introduction of enzyme replacement therapy]
Dtsch Med Wochenschr 132, 1505-9.
(2007)
Malignant head and neck paragangliomas in SDHB mutation carriers
Otolaryngol Head Neck Surg 137, 126-9.
(2007)
Podocin organizes ion channel-lipid supercomplexes: implications for mechanosensation at the slit diaphragm
Nephron Exp Nephrol 106, e27-31.
(2007)
Von hippel-lindau: a tumor suppressor links microtubules to ciliogenesis and cancer development
Cancer Res 67, 4537-40.
(2007)
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency
Clin Chem Lab Med 45, 483-6.
(2007)
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome
Hum Mutat 28, 638-9.
(2007)
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1
J Clin Endocrinol Metab 92, 2784-92.
(2007)
Re-evaluating acridine orange for rapid flow cytometric enumeration of parasitemia in malaria-infected rodents
Cytometry A 71, 662-7.
(2007)
Prime time for polycystic kidney disease: does one shot of roscovitine bring the cure?
Nephrol Dial Transplant 22, 2133-5.
(2007)
Solitary juxtapapillary capillary retinal angioma and von Hippel-Lindau disease
Can J Ophthalmol 42, 251-5.
(2007)
Reduced kidney function as a risk factor for incident heart failure: the atherosclerosis risk in communities (ARIC) study
J Am Soc Nephrol 18, 1307-15.
(2007)
Notch signaling controls the differentiation of transporting epithelia and multiciliated cells in the zebrafish pronephros
Development 134, 1111-22.
(2007)
Ciliary calcium signaling is modulated by kidney injury molecule-1 (Kim1)
Pflugers Arch 453, 819-29.
(2007)
[Juxtapapillary capillary retinal angioma with epiretinal membrane of the macula in familial Von-Hippel-Lindau-Syndrome]
Ophthalmologe 104, 317-20.
(2007)
Autosomal Dominante Polyzystische Nierenerkrankung
Deutsches Ärzteblatt 104, A-3022-3028.
(2006)
Posterior retroperitoneoscopic adrenalectomy--results of 560 procedures in 520 patients
Surgery 140, 943-8; discussion 948-50.
(2006)
Primary mouse hepatocytes for systems biology approaches: a standardized in vitro system for modelling of signal transduction pathways
Syst Biol (Stevenage) 153, 433-47.
(2006)
The HECT ubiquitin ligase AIP4 regulates the cell surface expression of select TRP channels
EMBO J 25, 5659-69.
(2006)
Genetic and clinical investigation of pheochromocytoma: a 22-year experience, from Freiburg, Germany to international effort
Ann N Y Acad Sci 1073, 122-37.
(2006)
The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth
J Cell Biol 175, 547-54.
(2006)
Podocin and MEC-2 bind cholesterol to regulate the activity of associated ion channels
Proc Natl Acad Sci U S A 103, 17079-86.
(2006)
A highly conserved tyrosine of Tim-3 is phosphorylated upon stimulation by its ligand galectin-9
Biochem Biophys Res Commun 351, 571-6.
(2006)
Nephrologists sans frontieres: On the metamorphosis of turning into a fly geneticist
Kidney Int 70, 1387-8.
(2006)
Endocrine signaling in Caenorhabditis elegans controls stress response and longevity
J Endocrinol 190, 191-202.
(2006)
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease
J Hum Genet 51, 788-93.
(2006)
Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia
J Am Soc Nephrol 17, 2424-33.
(2006)
Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis
J Comp Neurol 498, 466-75.
(2006)
Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma
N Engl J Med 354, 2729-31.
(2006)
Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma
J Clin Endocrinol Metab 91, 3478-81.
(2006)
Retinal angiomatosis in von Hippel-Lindau disease: a longitudinal ophthalmologic study
Ophthalmology 113, 1418-24.
(2006)
Dose-dependent Smad1, Smad5 and Smad8 signaling in the early mouse embryo
Dev Biol 296, 104-18.
(2006)
Aging at the interface of stem cell renewal, apoptosis, senescence, and cancer
Sci Aging Knowledge Environ 2006, pe14.
(2006)
Identification of a novel inhibitory actin-capping protein binding motif in CD2-associated protein
J Biol Chem 281, 19196-203.
(2006)
Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma
BMC Cancer 6, 131.
(2006)
Therapeutic approaches in autosomal dominant polycystic kidney disease (ADPKD): is there light at the end of the tunnel?
Nephrol Dial Transplant 21, 1752-7.
(2006)
The malignant potential of a succinate dehydrogenase subunit B germline mutation
J Endocrinol Invest 29, 350-2.
(2006)
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
Nat Genet 38, 674-81.
(2006)
Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation
Pediatr Transplant 10, 362-6.
(2006)
Remission of polyomavirus-induced graft nephropathy treated with low-dose leflunomide
Nephrol Dial Transplant 21, 2039-40.
(2006)
Bigenic mouse models of focal segmental glomerulosclerosis involving pairwise interaction of CD2AP, Fyn, and synaptopodin
J Clin Invest 116, 1337-45.
(2006)
ABO-incompatible kidney transplantation using antigen-specific immunoadsorption and rituximab: a single center experience
Xenotransplantation 13, 108-10.
(2006)
The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease
Proc Natl Acad Sci U S A 103, 5466-71.
(2006)
Pars plana vitrectomy for juxtapapillary capillary retinal angioma
Am J Ophthalmol 141, 587-9.
(2006)
The C/EBP homologous protein CHOP (GADD153) is an inhibitor of Wnt/TCF signals
Oncogene 25, 3397-407.
(2006)
Expression and function of C/EBP homology protein (GADD153) in podocytes
Am J Pathol 168, 20-32.
(2006)
Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients
Childs Nerv Syst 22, 1149-53.
(2005)
Spontaneous regression of retinal angiomatous lesions in v. Hippel-Lindau disease (VHL)
Eur J Med Res 10, 532-4.
(2005)
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia
EMBO J 24, 4415-24.
(2005)
Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene
JAMA 294, 2057-63.
(2005)
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD)
J Med Genet 42, e63.
(2005)
Slit or pore? A mutation of the ion channel TRPC6 causes FSGS
Nephrol Dial Transplant 20, 1777-9.
(2005)
CD2-associated protein (CD2AP) expression in podocytes rescues lethality of CD2AP deficiency
J Biol Chem 280, 29677-81.
(2005)
Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys
Am J Kidney Dis 45, e82-9.
(2005)
NEPH2 is located at the glomerular slit diaphragm, interacts with nephrin and is cleaved from podocytes by metalloproteinases
J Am Soc Nephrol 16, 1693-702.
(2005)
New genetic causes of pheochromocytoma: current concepts and the clinical relevance
Keio J Med 54, 15-21.
(2005)
Laparoscopic adrenal surgery for recurrent tumours in patients with hereditary phaeochromocytoma
Eur Urol 47, 622-6.
(2005)
The slit diaphragm: a signaling platform to regulate podocyte function
Curr Opin Nephrol Hypertens 14, 211-6.
(2005)
Gene expression profiling in polycythaemia vera: overexpression of transcription factor NF-E2
Br J Haematol 129, 138-50.
(2005)
Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis
Development 132, 1907-21.
(2005)
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease
Hum Mutat 25, 412.
(2005)
Paragangliomas in patients with mutations of the SDHD gene
Otolaryngol Head Neck Surg 132, 467-70.
(2005)
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
Kidney Int 67, 829-48.
(2005)
Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation
EMBO J 24, 705-16.
(2005)
Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD)
Kidney Int, 829-48.
(2005)
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD)
Hum Mutat, 225-31.
(2004)
Pheochromocytoma in childhood: implication for further diagnostic procedures
Acta Paediatr 93, 1630-4.
(2004)
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma
Br J Cancer 91, 1835-41.
(2004)
When to look for Von Hippel-Lindau disease in gastroenteropancreatic neuroendocrine tumors?
Neuroendocrinology 80 Suppl 1, 39-46.
(2004)
[Diagnosis and management of cervical paragangliomas: the Freiburg experience]
Laryngorhinootologie 83, 585-92.
(2004)
Malignant pheochromocytoma associated with germline mutation of the SDHB gene
J Urol 172, 1409-10.
(2004)
Malignant pheochromocytoma: current status and initiatives for future progress
Endocr Relat Cancer 11, 423-36.
(2004)
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
JAMA 292, 943-51.
(2004)
An inwardly rectifying whole cell current induced by Gq-coupled receptors
Biochem Biophys Res Commun 322, 177-85.
(2004)
[Paragangliomas of the head and neck. Part 2: Therapy and follow-up]
HNO 52, 651-60; quiz 661.
(2004)
[Paragangliomas in the head-/neck region. I: Classification and diagnosis]
HNO 52, 569-74; quiz 575.
(2004)
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)
Hum Mutat 23, 487-95.
(2004)
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)
Hum Mutat 23, 453-63.
(2004)
Pharmacokinetic study of artemisinin after oral intake of a traditional preparation of Artemisia annua L. (annual wormwood)
Am J Trop Med Hyg 70, 128-32.
(2004)
Thrombotic microangiopathy associated with unusual viral sequences in HIV-1-positive patients
Nephrol Dial Transplant 19, 1129-35.
(2004)
Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene
Am J Kidney Dis 43, 358-64.
(2004)
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma
Am J Hum Genet 74, 153-9.
(2003)
[Effects of esmolol- and sodium nitroprusside-induced controlled hypotension on hepatocellular integrity in patients undergoing endonasal sinus surgery]
Anasthesiol Intensivmed Notfallmed Schmerzther 38, 781-6.
(2003)
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease
Neurosurgery 53, 1306-13; discussion 1313-4.
(2003)
Subarachnoid haemorrhage due to cervical spinal cord haemangioblastomas in a patient with von Hippel-Lindau disease
Acta Neurochir (Wien) 145, 1009-13; discussion 1013.
(2003)
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains
Hum Mol Genet 12, 3397-405.
(2003)
Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset
J Clin Endocrinol Metab 88, 4911-6.
(2003)
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains
Kidney Int 64, 1580-7.
(2003)
Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries
J Med Genet 40, 676-81.
(2003)
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations
J Am Soc Nephrol 14, 2004-14.
(2003)
Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling
Mol Cell Biol 23, 4917-28.
(2003)
A sporadic case of von Hippel-Lindau disease with a secondary maculopathy as the presenting sign
Acta Ophthalmol Scand 81, 309-10.
(2003)
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome
J Clin Invest 111, 1181-90.
(2003)
Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1
J Am Soc Nephrol 14, 918-26.
(2003)
18F-DOPA positron emission tomography for the detection of glomus tumours
Eur J Nucl Med Mol Imaging 30, 689-94.
(2003)
Trigger Factor and DnaK possess overlapping substrate pools and binding specificities
Mol Microbiol 47, 1317-28.
(2003)
Stra13, a prostaglandin E2-induced gene, regulates the cellular redox state of podocytes
FASEB J 17, 682-4.
(2003)
The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1
J Biol Chem 278, 13417-21.
(2003)
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)
J Am Soc Nephrol 14, 76-89.
(2002)
Eluate derived by extracorporal antibody-based immunoadsorption elevates the cytosolic Ca2+ concentration in podocytes via B2 kinin receptors
Kidney Blood Press Res 25, 384-93.
(2002)
Kidney injury molecule-1 expression in murine polycystic kidney disease
American journal of physiology. Renal physiology 283, F1326-36
(2002)
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene
J Am Soc Nephrol 13, 2246-58.
(2002)
Interaction of 14-3-3 protein with regulator of G protein signaling 7 is dynamically regulated by tumor necrosis factor-alpha
J Biol Chem 277, 32954-62.
(2002)
Expression of functional CCR and CXCR chemokine receptors in podocytes
J Immunol 168, 6244-52.
(2002)
Endoscopic treatment of solitary, bilateral, multiple, and recurrent pheochromocytomas and paragangliomas
World J Surg 26, 1005-12.
(2002)
Novel concepts in understanding and management of glomerular proteinuria
Nephrol Dial Transplant 17, 951-5.
(2002)
Recurrent polytopic chromaffin paragangliomas in a 9-year-old boy resulting from a novel germline mutation in the von Hippel-Lindau gene
J Pediatr Hematol Oncol 24, 145-8.
(2002)
The polycystin-1 C-terminal fragment triggers branching morphogenesis and migration of tubular kidney epithelial cells
J Clin Invest 109, 481-9.
(2002)
Selective loss of chromosome 11 in pheochromocytomas associated with the VHL syndrome
Oncogene 21, 1117-22.
(2002)
Pheochromocytomas: detection with 18F DOPA whole body PET--initial results
Radiology 222, 507-12.
(2001)
Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin
J Clin Invest 108, 1621-9.
(2001)
RASSF1A promoter region CpG island hypermethylation in phaeochromocytomas and neuroblastoma tumours
Oncogene 20, 7573-7.
(2001)
Functional dissection of trigger factor and DnaK: interactions with nascent polypeptides and thermally denatured proteins
Biol Chem 382, 1235-43.
(2001)
Involvement of lipid rafts in nephrin phosphorylation and organization of the glomerular slit diaphragm
Am J Pathol 159, 1069-77.
(2001)
Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2
Proc Natl Acad Sci U S A 98, 9784-9.
(2001)
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality
J Med Genet 38, 508-14.
(2001)
Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease
Eur J Pediatr 160, 421-4.
(2001)
Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system
J Neurol Neurosurg Psychiatry 70, 644-8.
(2001)
Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease
Am J Kidney Dis 37, 852-8.
(2001)
A patient with neurological deficits and seizures after renal transplantation
Nephrol Dial Transplant 16, 631-3.
(2001)
Control of the cystic fibrosis transmembrane conductance regulator by alphaG(i) and RGS proteins
Biochem Biophys Res Commun 281, 917-23.
(2001)
The cytoplasmic C-terminal fragment of polycystin-1 regulates a Ca2+-permeable cation channel
J Biol Chem 276, 4093-101.
(2000)
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
Cancer Res 60, 6822-5.
(2000)
Retinal angiomatosis and von Hippel-Lindau disease
Graefes Arch Clin Exp Ophthalmol 238, 916-21.
(2000)
Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas
J Clin Endocrinol Metab 85, 4568-74.
(2000)
Incidence and clinical relevance of RET proto-oncogene germline mutations in pheochromocytoma patients
J Hypertens 18, 1019-23.
(2000)
Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model
J Am Soc Nephrol 11, 1253-60.
(2000)
14-3-3 interacts with regulator of G protein signaling proteins and modulates their activity
J Biol Chem 275, 28167-72.
(2000)
Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease
Eur J Med Res 5, 47-58.
(1999)
Directed membrane transport is involved in process formation in cultured podocytes
J Am Soc Nephrol 10, 1633-9.
(1999)
Cystic fibrosis transmembrane conductance regulator inhibits epithelial Na+ channels carrying Liddle's syndrome mutations
J Biol Chem 274, 13894-9.
(1999)
The first-nucleotide binding domain of the cystic-fibrosis transmembrane conductance regulator is important for inhibition of the epithelial Na+ channel
Proc Natl Acad Sci U S A 96, 5310-5.
(1999)
Cellular activation triggered by the autosomal dominant polycystic kidney disease gene product PKD2
Mol Cell Biol 19, 3423-34.
(1999)
Specific association of the gene product of PKD2 with the TRPC1 channel
Proc Natl Acad Sci U S A 96, 3934-9.
(1999)
E-cadherin binding prevents beta-catenin nuclear localization and beta-catenin/LEF-1-mediated transactivation
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The polycystic kidney disease 1 gene product modulates Wnt signaling
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Molecular and functional characterization of s-KCNQ1 potassium channel from rectal gland of Squalus acanthias
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Wnt signaling and transcriptional control of Siamois in Xenopus embryos
Proc Natl Acad Sci U S A 95, 5626-31.
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Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2
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T cell adhesion to P-selectin induces tyrosine phosphorylation of pp125 focal adhesion kinase and other substrates
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Suppression of cell-mediated and humoral immune responses by an interleukin-2-immunoglobulin fusion protein in mice
J Clin Invest 97, 1204-10.
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Protein loss and genetic polymorphism of apolipoprotein(a) modulate serum lipoprotein(a) in CAPD patients
Nephrol Dial Transplant 10, 75-81.
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A sialyl-Le(x)-negative melanoma cell line binds to E-selectin but not to P-selectin
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T cells bind to the endothelial adhesion molecule GMP-140 (P-selectin)
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(1992)
Tumor necrosis factor-alpha, interleukin-1 beta, and interleukin-6 expression in inflammatory bowel disease
Dig Dis Sci 37, 818-26.
(1992)
Human cytomegalovirus in rejected kidney grafts; detection by polymerase chain reaction
Nephrol Dial Transplant 7, 865-70.
(1992)
Human cytomegalovirus in immunoglobulin A nephropathy: detection by polymerase chain reaction
Nephron 62, 389-93.
(1991)
Promotion of B cell stimulation in graft recipients through a mechanism distinct from interleukin-6 gene superinduction
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(1991)
Effects of diltiazem upon metabolism and immunosuppressive action of cyclosporine in kidney graft recipients
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(1991)
The T cell activation antigen CD27 is a member of the nerve growth factor/tumor necrosis factor receptor gene family
J Immunol 147, 3165-9.
(1990)
Slow accumulation of cyclosporin metabolites as measured by specific and nonspecific cyclosporin RIA
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(1990)
A kinetic analysis of the effects of interleukin-2 diphtheria toxin fusion protein upon activated T cells
Transplantation 49, 198-201.
(1990)
Evidence that glucocorticosteroids block expression of the human interleukin-6 gene by accessory cells
Transplantation 49, 183-5.
(1990)
Possible association of the immunosuppressive and B cell lymphoma-promoting properties of cyclosporine
Transplantation 49, 191-4.
(1990)
Recognition by ELAM-1 of the sialyl-Lex determinant on myeloid and tumor cells
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(1989)
Verapamil selectively inhibits expression of interleukin-2 messenger RNA in mitogen activated mononuclear blood cells
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(1989)
Multivariate analysis of aminoglycoside levels in hemodialysis patients
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(1989)
Cyclosporin drug monitoring: comparison of four immunoassays and HPLC
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(1989)
Similar effects of cyclosporine and verapamil on lymphokine, interleukin 2 receptor, and proto-oncogene expression
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(1989)
Sequential effects of interleukin 2-diphtheria toxin fusion protein on T-cell activation
Proc Natl Acad Sci U S A 86, 9485-8.
(1989)
Factors influencing the response to hepatitis B vaccination of hemodialysis patients
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(1988)
[Beta 2 microglobulin. 1: Physiologic significance, behavior in kidney diseases and chronic hemodialysis]
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