CRC 1453 Seminar Series - Distinguished Speaker Professor Katalin Susztak – Perelman School of Medicine, University of Pennsylvania, USA
Topic: Going from kidney function GWAS to kidney disease mechanism
(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.
(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 renal inflammatory network of nephronophthisis. Hum Mol Genet, doi: 10.1093/hmg/ddac014.
(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) Microridge-like structures anchor motile cilia. Nat Commun, doi: 10.1038/s41467-022-29741-3.
(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) Clock genes rescue nphp mutations in zebrafish. Hum Mol Genet, doi: 10.1093/hmg/ddac160.
(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) Diagnostic Utility of Exome Sequencing for Kidney Disease. N Engl J Med 380, 2078
(2019) Metabolic perturbations caused by depletion of nephronophthisis factor Anks6 in mIMCD3 cells. Metabolomics 15, 71
(2019) Mass Spectrometry-Based Analysis of TRPP2 Phosphorylation. Methods Mol Biol 1987, 51-64
(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) Polycystic kidney disease. Nat Rev Dis Primers 4, 50
(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
(2018) 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
(2018) 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
(2018) GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol 29, 2123-2138
(2018) A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Rep 23, 2495-2508
(2018) Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J Pediatr 199, 22-28.e6
(2018) Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140. Hum Mutat 39, 983-992
(2018) CGEF-1 regulates mTORC1 signaling during adult longevity and stress response in C. elegans. Oncotarget 9, 9581-9595
(2018) Metabolic characterization of directly reprogrammed renal tubular epithelial cells (iRECs). Sci Rep 8, 3878
(2018) Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses. Front Pediatr 5, 221
(2018) Treating C3 glomerulopathy with eculizumab. BMC Nephrol 19, 7
(2018) 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
(2018) A committed postselection precursor to natural TCRalphabeta+ intraepithelial lymphocytes. Mucosal Immunol 11, 333-344
(2017) Using the Drosophila Nephrocyte to Model Podocyte Function and Disease. Front Pediatr 5, 262
(2017) Associations between genetic risk variants for kidney diseases and kidney disease etiology. Sci Rep 7, 13944
(2017) Mitochondrial Priming by CD28. Cell 171, 385-397
(2017) The Evolving Complexity of the Podocyte Cytoskeleton. J Am Soc Nephrol 28, 3166-3174
(2017) TRPP2 ion channels: Critical regulators of organ morphogenesis in health and disease. Cell Calcium 66, 25-32
(2017) 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
(2017) Advances in renal genetic diagnosis Cell Tissue Res 369, 93-104.
(2017) Ubiquitin ligase RNF146 coordinates bone dynamics and energy metabolism J Clin Invest 127, 2612-2625.
(2017) From genetics to personalized nephrology: kidney research at a tipping point. Cell Tissue Res 369, 1-4
(2017) Engineering kidney cells: reprogramming and directed differentiation to renal tissues. Cell Tissue Res 369, 185-197
(2017) 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
(2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease Nat Genet 49, 1025-1034.
(2017) The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase epsilon J Am Soc Nephrol.
(2017) Genetic kidney diseases: Caenorhabditis elegans as model system. Cell Tissue Res 369, 105-118
(2017) EpCAM controls morphogenetic programs during zebrafish pronephros development. Biochem Biophys Res Commun 487, 209-215
(2017) New Insights into Podocyte Biology in Glomerular Health and Disease. J Am Soc Nephrol 28, 1707-1715
(2017) Toolbox in a tadpole: Xenopus for kidney research. Cell Tissue Res 369, 143-157
(2017) YAP-mediated mechanotransduction determines the podocyte's response to damage. Sci Signal 10, doi: 10.1126/scisignal.aaf8165
(2017) 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
(2017) Role of primary cilia in non-dividing and post-mitotic cells. Cell Tissue Res 369, 11-25
(2017) Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease Front Pediatr 5, 18.
(2017) Targeting mTOR Signaling Can Prevent the Progression of FSGS. J Am Soc Nephrol 28, 2144-2157
(2017) NorUrsodeoxycholic acid ameliorates cholemic nephropathy in bile duct ligated mice. J Hepatol 67, 110-119
(2017) The long journey through renal filtration: new pieces in the puzzle of slit diaphragm architecture. Curr Opin Nephrol Hypertens 26, 148-153
(2017) The use of urinary proteomics in the assessment of suitability of mouse models for ageing. PLoS One 12, e0166875
(2017) Efficient genome editing of differentiated renal epithelial cells. Pflugers Arch 469, 303-311
(2017) Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte. J Am Soc Nephrol 28, 1521-1533
(2017) 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
(2017) Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies. Nephrol Dial Transplant 32, 325-332
(2017) mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells. J Am Soc Nephrol 28, 230-241
(2016) Direct reprogramming of fibroblasts into renal tubular epithelial cells by defined transcription factors. Nat Cell Biol 18, 1269-1280
(2016) 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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(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) Zona occludens proteins modulate podosome formation and function FASEB J 25, 505-14.
(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) Primary cilia regulate mTORC1 activity and cell size through Lkb1 Nat Cell Biol 12, 1115-22.
(2010) Congenital fibrocystic liver diseases Best Pract Res Clin Gastroenterol 24, 573-84.
(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) Multiple endocrine neoplasia type 2 Best Pract Res Clin Endocrinol Metab 24, 371-87.
(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) Genome-wide association studies in nephrology research Am J Kidney Dis 56, 743-58.
(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) New loci associated with kidney function and chronic kidney disease Nat Genet 42, 376-84.
(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) Common variants in KCNN3 are associated with lone atrial fibrillation Nat Genet 42, 240-4.
(2010) Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge Nat Genet 42, 142-8.
(2010) Genome-wide association study of PR interval Nat Genet 42, 153-9.
(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) Wnt signaling and rejuvenation of the adult kidney Nephrol Dial Transplant 25, 34-6.
(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) [Family screening in patients with retinal angiomatosis] Klin Monbl Augenheilkd 226, 939-43.
(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) Regulation of ciliary polarity by the APC/C Proc Natl Acad Sci U S A 106, 17799-804.
(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) The approach to the patient with paraganglioma J Clin Endocrinol Metab 94, 2677-83.
(2009) Diagnosing patients with hereditary paraganglial tumours Lancet Oncol 10, 741.
(2009) Signaling at the slit: podocytes chat by synaptic transmission J Am Soc Nephrol 20, 1862-4.
(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) Juxtacondylar approach in temporal paraganglioma surgery: when and why? Skull Base 19, 43-7.
(2009) Clinical features of paraganglioma syndromes Skull Base 19, 17-25.
(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) Podocyte polarity signalling Curr Opin Nephrol Hypertens 18, 324-30.
(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) Genome-wide association study of blood pressure and hypertension Nat Genet 41, 677-87.
(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) Familial pheochromocytoma Hormones (Athens) 8, 29-38.
(2009) Combination of immunosuppressive drugs leaves specific "fingerprint" on gene expression in vitro Immunopharmacol Immunotoxicol 31, 283-92.
(2009) Flying podocytes Kidney Int 75, 455-7.
(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) [Pheochromocytoma - still a challenge] Internist (Berl) 50, 27-35.
(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) TRPP2 and TRPV4 form a polymodal sensory channel complex J Cell Biol 182, 437-47.
(2008) TCF7L2 variants associate with CKD progression and renal function in population-based cohorts J Am Soc Nephrol 19, 1989-99.
(2008) KIBRA modulates directional migration of podocytes J Am Soc Nephrol 19, 1891-903.
(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) [Molecular pathogenesis of proteinuria] Dtsch Med Wochenschr 133, 954-8.
(2008) Flow modulates centriole movements in tubular epithelial cells Pflugers Arch 456, 1025-35.
(2008) The subcellular localization of TRPP2 modulates its function J Am Soc Nephrol 19, 1342-51.
(2008) It's not all about nephrin Kidney Int 73, 671-3.
(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) Sensitive cilia set up the kidney Nat Med 13, 1409-11.
(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) [Fabry disease. An interdisciplinary challenge] Dtsch Med Wochenschr 132, 2271-7.
(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) Early manifestations of polycystic kidney disease Lancet 369, 2157.
(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) Wnt signaling in polycystic kidney disease J Am Soc Nephrol 18, 1389-98.
(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) [Von Hippel-Lindau disease. Interdisciplinary patient care] Ophthalmologe 104, 119-26.
(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) Pheochromocytoma: presentation, diagnosis and treatment J Hypertens 24, 2331-9.
(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) Polycystin-2 immunolocalization and function in zebrafish J Am Soc Nephrol 17, 2706-18.
(2006) Is Fabry disease associated with leukaemia? Br J Haematol 135, 264-5.
(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) Primary (AL) amyloidosis in plasma cell disorders Oncologist 11, 824-30.
(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) Polycystic kidney disease: cell division without a c(l)ue? Kidney Int 70, 854-64.
(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) Host cell responses induced by hepatitis C virus binding Hepatology 43, 1326-36.
(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) Cilium-generated signaling: a cellular GPS? Curr Opin Nephrol Hypertens 15, 245-9.
(2006) Recent aging research in Caenorhabditis elegans Exp Gerontol 41, 557-63.
(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) Gene profiling of polycystic kidneys Nephrol Dial Transplant 21, 1816-24.
(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) Fluorine-18 DOPA PET imaging of paraganglioma syndrome Clin Nucl Med 31, 39-41.
(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) Genetic testing for pheochromocytoma-associated syndromes Ann Endocrinol (Paris) 66, 178-85.
(2005) CD2-associated protein (CD2AP) expression in podocytes rescues lethality of CD2AP deficiency J Biol Chem 280, 29677-81.
(2005) Subcellular localization and trafficking of polycystins Pflugers Arch 451, 286-93.
(2005) Mutations of the SDHB and SDHD genes Fam Cancer 4, 49-54.
(2005) Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys Am J Kidney Dis 45, e82-9.
(2005) Endoscopic treatment of large primary adrenal tumours Br J Surg 92, 719-23.
(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) Von Hippel-Lindau disease--a rare disease important to recognize Onkologie 28, 159-63.
(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.
(2004) The genetic basis of pheochromocytoma Front Horm Res 31, 45-60.
(2003) Soft nodules at the tip of the tongue of a 26-year-old man Arch Dermatol 139, 1647-52.
(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) [Pathogenetic aspectics of nephrotic syndrome] Internist (Berl) 44, 1075-82.
(2003) Genetic screening in haemolytic uraemic syndrome Curr Opin Nephrol Hypertens 12, 653-7.
(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.
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