Topic: Data Science and Cardiovascular Risk - Mapping the new Frontier
Topic: Bridging the gap: Examples of translational nephrology and team medicine
(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. [Epub ahead of print]
(2021) TEMPORARY REMOVAL: Genetic and Sporadic Renal Cystic Diseases During the Perinatal and Neonatal Period: Core Curriculum 2021. Am J Kidney Dis, doi: 10.1053/j.ajkd.2020.10.021. [Epub ahead of print]
(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. [Epub ahead of print]
(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. [Epub ahead of print]
(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 wind of change in the management of autosomal dominant polycystic kidney disease in childhood Pediatr Nephrol, doi: 10.1007/s00467-021-04974-4.
(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.
(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, 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) Loss of PKD1/polycystin-1 impairs lysosomal activity in a CAPN (calpain)-dependent manner Autophagy, doi: 10.1080/15548627.2020.1826716.
(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.
(2016) MAGI-1 Interacts with Nephrin to Maintain Slit Diaphragm Structure through Enhanced Rap1 Activation in Podocytes. J Biol Chem 291, 24406-24417
(2016) Cell cycle controls stress response and longevity in C. elegans. Aging (Albany NY) 8, 2100-2126
(2016) Successful Management of Calciphylaxis in a Kidney Transplant Patient: Case Report. Transplant Direct 2, e70
(2016) Enhanced exercise and regenerative capacity in a mouse model that violates size constraints of oxidative muscle fibres. Elife 5, doi: 10.7554/eLife.16940
(2016) Local TNF causes NFATc1-dependent cholesterol-mediated podocyte injury. J Clin Invest 126, 3336-50
(2016) Roles of mTOR complexes in the kidney: implications for renal disease and transplantation. Nat Rev Nephrol 12, 587-609
(2016) A flexible, multilayered protein scaffold maintains the slit in between glomerular podocytes. JCI Insight 1, doi: 10.1172/jci.insight.86177
(2016) ANKS3 is mutated in a family with autosomal recessive laterality defect. Hum Genet 135, 1233-1239
(2016) Aberrant podocyte cell cycle in glomerular disease. Cell Cycle 15, 2237-8
(2016) MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum Eur J Med Genet 59, 386-91.
(2016) [Hemolytic kidney failure and transient ischemic attack in a 32-year-old female] Internist (Berl) 57, 1022-1028.
(2016) Autophagy in kidney disease and aging: lessons from rodent models. Kidney Int 90, 950-964
(2016) Mitochondrial Dynamics Controls T Cell Fate through Metabolic Programming. Cell 166, 63-76
(2016) Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome Nephrol Dial Transplant 31, 1114-21.
(2016) Polycystic kidney disease: Cilia and mechanosensation revisited. Nat Rev Nephrol 12, 318-9
(2016) Clinical utility gene card for: Meckel syndrome - update 2016 Eur J Hum Genet 24.
(2016) 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
(2016) mTORC2 critically regulates renal potassium handling. J Clin Invest 126, 1773-82
(2016) Targeted rescue of a polycystic kidney disease mutation by lysosomal inhibition. Kidney Int 89, 949-55
(2016) How Is Proteinuric Diabetic Nephropathy Caused by Disturbed Proteostasis and Autophagy in Podocytes? Diabetes 65, 539-41
(2016) FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun 7, 10822
(2016) C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies Ophthalmic Genet 37, 290-3.
(2016) Using Xenopus to study genetic kidney diseases. Semin Cell Dev Biol 51, 117-24
(2016) The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes. Hum Mol Genet 25, 1328-44
(2016) 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
(2016) One hundred ABO-incompatible kidney transplantations between 2004 and 2014: a single-centre experience. Nephrol Dial Transplant 31, 663-71
(2016) Nephrin Contributes to Insulin Secretion and Affects Mammalian Target of Rapamycin Signaling Independently of Insulin Receptor. J Am Soc Nephrol 27, 1029-41
(2016) MOF maintains transcriptional programs regulating cellular stress response. Oncogene 35, 2698-710
(2016) The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. Eur J Hum Genet 24, 774-8
(2016) ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS J Am Soc Nephrol 27, 63-8.
(2016) LRP5 variants may contribute to ADPKD Eur J Hum Genet 24, 237-42.
(2016) Secreted frizzled-related protein 4 predicts progression of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 31, 284-9
(2015) A Cilia Independent Role of Ift88/Polaris during Cell Migration PloS One 10, e0140378- e0140378
(2015) 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
(2015) 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
(2015) 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
(2015) Transcriptional regulator PRDM12 is essential for human pain perception Nat Genet 47, 803-808
(2015) Genomic imbalances in pediatric patients with chronic kidney disease J Clin Invest 125, 2171-2178
(2015) Rationale, design and objectives of ARegPKD, a European ARPKD registry study BMC Nephrol, doi: 10.1186/s12882-015-0002-z
(2015) Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1 Clin J Am Soc Nephrol, 10, 825-831
(2015) Modulation of genetic associations with serum urate levels by body-mass-index in humans PLos One 10, e0119752
(2015) 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
(2015) Thrombospondin type-1 domain-containing 7A in idiopathic membranous nephropathy N Engl J Med 372, 1073
(2015) An endogenous nanomineral chaperones luminal antigen and peptidoglycan to intestinal immune cells Nat Nanotechnol 10, 361-369
(2015) TSC1 Activates TGF-beta-Smad2/3 Signaling in Growth Arrest and Epithelial-to-Mesenchymal Transition Dev Cell 32, 617-30
(2015) A Genetic Risk Score for Thyroid Peroxidase Antibodies Associates with Clinical Thyroid Disease in Community-Based Populations J Clin Endocrinol Metab, jc20144352
(2015) Plasma Urate and Risk of a Hospital Stay with AKI: The Atherosclerosis Risk in Communities Study Clin J Am Soc Nephrol
(2015) New insights into mechanisms of glomerular injury and repair from the 10th International Podocyte Conference Kidney Int, doi: 10.1038/ki.2015.5
(2015) Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells Embo J 34, 1078-89
(2015) Anks3 interacts with nephronophthisis proteins and is required for normal renal development Kidney Int, doi: 10.1038/ki.2015.17
(2015) An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease PLoS One 10, e0116680
(2015) The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin Development 142, 174-84
(2015) 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
(2015) Genome-wide association studies in nephrology: using known associations for data checks Am J Kidney Dis 65, 217-22
(2015) 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) An update on ABO-incompatible kidney transplantation Transpl Int 28, 387-97
(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
(2015) ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies Pediatr Nephrol 30, 15-30
(2015) The Future of Polycystic Kidney Disease Research-As Seen By the 12 Kaplan Awardees J Am Soc Nephrol, Ahead of print
(2015) SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7 PloS One, doi: 10.1371/journal.pone.0130275
(2015) Autosomal dominant polycystic kidney disease: the changing face of clinical management Lancet 385, 1993-2002
(2015) Tectonic gene mutations in patients with Joubert syndrome Eur J Hum Genet 5, 616-6120
(2015) Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD) Clin Nephrol 83, 297-300
(2015) Heart failure in a cohort of patients with chronic kidney disease: the GCKD study PLoS One, doi: 10.1371/journal.pone.0122552
(2015) Secreted frizzled-related protein 4 predicts progression of autosomal dominant polycystic kidney disease Nephrol Dial Transplant, ahead of print
(2015) Therapy of ADPKD Dtsch. Ärtzeblatt
(2015) The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells J Cell Biol, doi: 10.1083/jcb.201502043.
(2014) Effect of everolimus on polycystic liver volume in autosomal dominant polycystic kidney disease Clin Exp Nephrol, ahead of print
(2014) Crystal structures of IFT70/52 and IFT52/46 provide insight into intraflagellar transport B core complex assembly J Cell Biol 207(2), 269-82.
(2014) 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) Neonatal ascites in autosomal recessive polycystic kidney disease (ARPKD) Clin Nephrol
(2014) Building a network of ADPKD reference centres across Europe: the EuroCYST initiative Nephrol Dial Transplant 29, Suppl 4, iv26-32
(2014) 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
(2014) Casein Kinase 1 alpha Phosphorylates the Wnt Regulator Jade-1 and Modulates Its Activity J Biol Chem 289, 26344-56.
(2014) Mutation of POC1B in a severe syndromic retinal ciliopathy Hum Mutat 35, 1153-62
(2014) mTORC2-SGK-1 acts in two environmentally responsive pathways with opposing effects on longevity Aging Cell 13, 869-78
(2014) Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus") Pediatr Ophthalmol Strabismus 51, e51-4
(2014) Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations BMC Genet 15, 81
(2014) mTORC1 maintains renal tubular homeostasis and is essential in response to ischemic stress Proc Natl Acad Sci USA 111, E2817-26
(2014) Hantavirus infection with severe proteinuria and podocyte foot-process effacement Am J Kidney Dis 64, 452-456
(2014) V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis Cell Rep 8, 10-19
(2014) Kinesin-2 mediates apical endosome transport during epithelial lumen formation Cell Logist 4(1), e28928. Epub 2014 May 6.
(2014) Eculizumab as first-line therapy for atypical hemolytic uremic syndrome Pediatrics 133, e1759-63
(2014) Reduction of proteinuria through podocyte alkalinization J Biol Chem 289, 17454-67
(2014) Chromatin dynamics in kidney development and function Cell Tissue Res 356, 601-608
(2014) The TRPP subfamily and polycystin-1 proteins Handb Exp Pharmacol 222, 675-711
(2014) N-glycosylation determines the abundance of the transient receptor potential channel TRPP2 J Biol Chem 289, 14854-67
(2014) Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis Journal 111, 5343-8.
(2014) Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy Journal 18, 203-5.
(2014) Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation Journal 18, 134-9.
(2014) Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness Hum Mutat 35, 565-70
(2014) Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD J Am Soc Nephrol 25, 1653-61
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(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.
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