Playing in Traffic: Novel Signaling and Trafficking Mechanisms in Epithelial Cells
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(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.
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(2016) ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS J Am Soc Nephrol 27, 63-8.
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(2015) Transcriptional regulator PRDM12 is essential for human pain perception Nat Genet 47, 803-808
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(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, in press
(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
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(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
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(2014) Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD J Am Soc Nephrol 25, 1653-61
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(2014) Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies Pediatr Nephrol 29, 1451-6
(2014) 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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(2014) Unraveling the Role of Podocyte Turnover in Glomerular Aging and Injury J Am Soc Nephrol., 4, 707-716
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(2014) 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
(2014) Out-of-frame start codons prevent translation of truncated nucleo-cytosolic cathepsin L in vivo Nat Commun 5, 4931, doi:10.1038/ncomms5931
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(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.
(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) Expression profiling on chronically rejected transplant kidneys Transplantation 76, 539-47.
(2003) Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations J Am Soc Nephrol 14, 2004-14.
(2003) Autosomal recessive polycystic kidney disease (ARPKD) J Nephrol 16, 453-8.
(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.
(2003) NEPH1 defines a novel family of podocin interacting proteins FASEB J 17, 115-7.
(2002) [Pathogenesis of cystic kidney diseases] Verh Dtsch Ges Pathol 86, 138-44.
(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) Imaging vs biochemical testing for pheochromocytoma JAMA 288, 314-5; author reply 315.
(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.
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