Fat Hormones and Metabolic Control
20 KIDGEM related review topics in Cell & Tissue Research
(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) 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) Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease Front Pediatr 5, 18.
(2016) Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin BMC Med Genet 17, 73.
(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) Systemic complement activation and complement gene analysis in enterohaemorrhagic Escherichia coli-associated paediatric haemolytic uraemic syndrome Nephrol Dial Transplant 31, 1114-21.
(2016) Clinical utility gene card for: Meckel syndrome - update 2016 Eur J Hum Genet 24.
(2016) C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies Ophthalmic Genet 37, 290-3.
(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) 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.
(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, 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
(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
(2014) Mutations in the human UBR1 gene and the associated phenotypic spectrum Journal 35, 521-31.
(2014) Transcription factors controlling development and function of innate lymphoid cells Int Immunol 26, 119-128
(2014) Calciphylaxis Lancet 383, 1067.
(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
(2014) Autophagy in glomerular health and disease Semin Nephrol 34, 42-52
(2014) Lysine-specific demethylase 1 regulates differentiation onset and migration of trophoblast stem cells Nat Commun 5, 3174.
(2014) Unraveling the Role of Podocyte Turnover in Glomerular Aging and Injury J Am Soc Nephrol., 4, 707-716
(2014) Cortical and clonal contribution of Tbr2 expressing progenitors in the developing mouse brain Cerebral Cortex, doi:10.1093/cercor/bhu125
(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
(2013) TBX3 Directs Cell-Fate Decision toward Mesendoderm Stem Cell Reports 1, 248-65.
(2013) Anthracyclines induce DNA damage response-mediated protection against severe sepsis Immunity 39, 874-84.
(2013) Genetic characteristics of the human hepatic stellate cell line LX-2 PLoS One 8, e75692.
(2013) Def-6, a novel regulator of small GTPases in podocytes, acts downstream of atypical protein kinase C (aPKC) lambda/iota Am J Pathol 183, 1945-59.
(2013) A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish PLoS One 8, e72549.
(2013) Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations PLoS Genet 9, e1003796.
(2013) AKT2 is essential to maintain podocyte viability and function during chronic kidney disease Nat Med 19, 1288-96.
(2013) First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutations J Neuroophthalmol 33, 349-53.
(2013) Common variants in Mendelian kidney disease genes and their association with renal function J Am Soc Nephrol 24, 2105-17.
(2013) The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly Nephrol Dial Transplant 28, 2744-53.
(2013) Induced pluripotent stem cells from polycystic kidney disease patients: a novel tool to model the pathogenesis of cystic kidney disease J Am Soc Nephrol 24, 1507-9
(2013) The podocyte slit diaphragm--from a thin grey line to a complex signalling hub Nat Rev Nephrol 9, 587-98.
(2013) TORC2 signaling antagonizes SKN-1 to induce C. elegans mesendodermal embryonic development Dev Biol 384, 214-27.
(2013) Inhibition of mTORC1 by astrin and stress granules prevents apoptosis in cancer cells Cell 154, 859-74.
(2013) Proteinuria impairs podocyte regeneration by sequestering retinoic acid J Am Soc Nephrol 24, 1756-68.
(2013) The effect of common uromodulin variants on urinary protein level and gene transcription Kidney Int 84, 410-1.
(2013) Generation and characterization of a tamoxifen-inducible Eomes(CreER) mouse line Genesis 51, 725-33.
(2013) Ruptured Cerebral Aneurysm and Acute Bilateral Carotid Artery Dissection in a Patient with Polycystic Kidney Disease and Polycystic Liver Disease Cerebrovasc Dis 35, 590-591.
(2013) Karyomegalic interstitial nephritis Lancet 382, 2093.
(2013) Successful treatment of the postpartum atypical hemolytic uremic syndrome with eculizumab Ann Intern Med 159, 76.
(2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 Nat Genet 45, 951-6.
(2013) Immunosuppression for membranous nephropathy Lancet 381, 2161.
(2013) Metabolites associate with kidney function decline and incident chronic kidney disease in the general population Nephrol Dial Transplant 28, 2131-8.
(2013) Podocyte regeneration: who can become a podocyte? Am J Pathol 183, 333-5.
(2013) Evolving importance of kidney disease: from subspecialty to global health burden Lancet 382, 158-69.
(2013) Kif3a guides microtubular dynamics, migration and lumen formation of MDCK cells PLoS One 8, e62165.
(2013) A de novo GLI3 mutation in a patient with acrocallosal syndrome Am J Med Genet A 161, 1394-400.
(2013) Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome Transpl Int 26, 640-50.
(2013) Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate J Hum Genet 58, 461-6.
(2013) Autosomal-recessive polycystic kidney disease gets more complex Gastroenterology 144, 1155-6.
(2013) Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules Proc Natl Acad Sci U S A 110, 5223-8
(2013) Vps34 deficiency reveals the importance of endocytosis for podocyte homeostasis J Am Soc Nephrol 24, 727-43.
(2013) Comprehensive analysis of glomerular mRNA expression of pro- and antithrombotic genes in atypical haemolytic-uremic syndrome (aHUS) Virchows Arch 462, 455-64.
(2013) Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium Am J Kidney Dis 61, 889-98.
(2013) N-wasp is required for stabilization of podocyte foot processes J Am Soc Nephrol 24, 713-21.
(2013) Genetic investigations of kidney disease: core curriculum 2013 Am J Kidney Dis 61, 832-44.
(2013) Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression Hum Mol Genet 22, 2177-85.
(2013) Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease Hum Mutat 34, 714-24.
(2013) Molecular fingerprinting of the podocyte reveals novel gene and protein regulatory networks Kidney Int 83, 1052-64.
(2013) [Diagnosis, course and treatment of autosomal dominant polycystic kidney disease] Dtsch Med Wochenschr 138, 196-8.
(2013) Comparison of serum concentrations of beta-trace protein, beta2-microglobulin, cystatin C, and creatinine in the US population Clin J Am Soc Nephrol 8, 584-92.
(2013) aPKClambda/iota and aPKCzeta contribute to podocyte differentiation and glomerular maturation J Am Soc Nephrol 24, 253-67.
(2013) The ciliary flow sensor and polycystic kidney disease Nephrol Dial Transplant 28, 518-26.
(2013) Genome-wide association analyses identify 18 new loci associated with serum urate concentrations Nat Genet 45, 145-54.
(2013) Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia Nephrol Dial Transplant 28, 227-32.
(2013) Molecular understanding of the slit diaphragm Pediatr Nephrol 28, 1957-62.
(2013) Cell loss and autophagy in the extra-adrenal chromaffin organ of Zuckerkandl are regulated by glucocorticoid signalling J Neuroendocrinol 25, 34-47.
(2013) A urate gene-by-diuretic interaction and gout risk in participants with hypertension: results from the ARIC study Ann Rheum Dis 72, 701-6.
(2013) Extended mutation spectrum of Usher syndrome in Finland Acta Ophthalmol 91, 325-34.
(2013) Diagnostic applications of next generation sequencing - working towards quality standards J Lab Med (in press).
(2012) COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9 Nephrol Dial Transplant 27, 4236-40.
(2012) Is podocyte research at a tipping point? Report from the 9(th) International Podocyte Conference Kidney Int 82, 1041-3.
(2012) Epigenetics and imprinting Arch Pediatr 19, 1145-7.
(2012) The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ Hum Mol Genet 21, 5528-38.
(2012) Guidelines for the use and interpretation of assays for monitoring autophagy Autophagy 8, 445-544.
(2012) Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function Hum Mol Genet 21, 5329-43.
(2012) How many ways can a podocyte die? Semin Nephrol 32, 394-404.
(2012) Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 Orphanet J Rare Dis 7, 59.
(2012) Cell-nonautonomous signaling of FOXO/DAF-16 to the stem cells of Caenorhabditis elegans PLoS Genet 8, e1002836.
(2012) Functional study of mammalian Neph proteins in Drosophila melanogaster PLoS One 7, e40300.
(2012) New players in the pathogenesis of focal segmental glomerulosclerosis Nephrol Dial Transplant 27, 3406-12.
(2012) Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing J Invest Dermatol 132, 2473-6.
(2012) Emerging role of autophagy in kidney function, diseases and aging Autophagy 8, 1009-31.
(2012) Autophagy plays a critical role in kidney tubule maintenance, aging and ischemia-reperfusion injury Autophagy 8, 826-37.
(2012) Role of the polarity protein Scribble for podocyte differentiation and maintenance PLoS One 7, e36705.
(2012) CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms Nat Genet 44, 714-9.
(2012) Incident gout in women and association with obesity in the Atherosclerosis Risk in Communities (ARIC) Study Am J Med 125, 717 e9-717 e17.
(2012) TOR signaling and rapamycin influence longevity by regulating SKN-1/Nrf and DAF-16/FoxO Cell Metab 15, 713-24.
(2012) YAP1 recruits c-Abl to protect angiomotin-like 1 from Nedd4-mediated degradation PLoS One 7, e35735.
(2012) Validated SNPs for eGFR and their associations with albuminuria Hum Mol Genet 21, 3293-8.
(2012) Genome-wide association and functional follow-up reveals new loci for kidney function PLoS Genet 8, e1002584.
(2012) Serum metabolite concentrations and decreased GFR in the general population Am J Kidney Dis 60, 197-206.
(2012) A dynamic network model of mTOR signaling reveals TSC-independent mTORC2 regulation Sci Signal 5, ra25.
(2012) Mammalian target of rapamycin signaling in the podocyte Curr Opin Nephrol Hypertens 21, 251-7.
(2012) Association of apolipoprotein A1 and B with kidney function and chronic kidney disease in two multiethnic population samples Nephrol Dial Transplant 27, 2839-47.
(2012) Rip1 (receptor-interacting protein kinase 1) mediates necroptosis and contributes to renal ischemia/reperfusion injury Kidney Int 81, 751-61.
(2012) Inversin, Wnt signaling and primary cilia Differentiation 83, S49-55.
(2012) Minimally invasive cortical-sparing surgery for bilateral pheochromocytomas Langenbecks Arch Surg 397, 233-8.
(2012) Educational paper: ciliopathies Eur J Pediatr 171, 1285-300.
(2012) The German Chronic Kidney Disease (GCKD) study: design and methods Nephrol Dial Transplant 27, 1454-60.
(2012) Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome (under review).
(2011) Growth Kinetics in Von Hippel-Lindau-Associated Renal Cell Carcinoma Urol Int.
(2011) Old friends form alliance against podocytes Kidney Int 80, 1117-9.
(2011) Mutations in multiple PKD genes may explain early and severe polycystic kidney disease J Am Soc Nephrol 22, 2047-56.
(2011) Prorenin receptor is essential for podocyte autophagy and survival J Am Soc Nephrol 22, 2193-202.
(2011) [Rare cause of insufficient metabolic control of diabetes mellitus - Case 10/2011] Dtsch Med Wochenschr 136, 2196.
(2011) Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD PLoS Genet 7, e1002292.
(2011) Cyclin B1 expression and p53 status in squamous cell carcinomas of the head and neck Anticancer Res 31, 3151-7.
(2011) Genetic association for renal traits among participants of African ancestry reveals new loci for renal function PLoS Genet 7, e1002264.
(2011) Preschoolers' comprehension of pronouns and reflexives: the impact of the task J Child Lang, 1-27.
(2011) CD2AP in mouse and human podocytes controls a proteolytic program that regulates cytoskeletal structure and cellular survival J Clin Invest 121, 3965-80.
(2011) Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk Nature 478, 103-9.
(2011) Age-related penetrance of hereditary atypical hemolytic uremic syndrome Ann Hum Genet 75, 639-47.
(2011) Human tumor-induced and naturally occurring Treg cells differentially affect NK cells activated by either IL-2 or target cells Eur J Immunol 41, 3564-73.
(2011) Educational paper : Ciliopathies Eur J Pediatr.
(2011) Human metabolic individuality in biomedical and pharmaceutical research Nature 477, 54-60.
(2011) Inhibition of glycogen synthase kinase 3beta induces dermal fibrosis by activation of the canonical Wnt pathway Ann Rheum Dis 70, 2191-8.
(2011) Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies Kidney Int 80, 1239-45.
(2011) The T-box transcription factor Eomesodermin acts upstream of Mesp1 to specify cardiac mesoderm during mouse gastrulation Nat Cell Biol 13, 1084-91.
(2011) Disruption of a ciliary B9 protein complex causes Meckel syndrome Am J Hum Genet 89, 94-110.
(2011) Local inhibition of angiogenesis results in an atrophic non-union in a rat osteotomy model Eur Cell Mater 22, 1-11.
(2011) The BAR domain protein PICK1 regulates cell recognition and morphogenesis by interacting with Neph proteins Mol Cell Biol 31, 3241-51.
(2011) Drosophila sperm swim backwards in the female reproductive tract and are activated via TRPP2 ion channels PLoS One 6, e20031.
(2011) Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites J Clin Endocrinol Metab 96, E1279-82.
(2011) mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice J Clin Invest 121, 2181-96.
(2011) Role of mTOR in podocyte function and diabetic nephropathy in humans and mice J Clin Invest 121, 2197-209.
(2011) Nephrocystin-4 is required for pronephric duct-dependent cloaca formation in zebrafish Hum Mol Genet 20, 3119-28.
(2011) Germline and somatic DNA methylation and epigenetic regulation of KILLIN in renal cell carcinoma Genes Chromosomes Cancer 50, 654-61.
(2011) ABCG transporters and disease FEBS J 278, 3215-25.
(2011) High-normal albuminuria and risk of heart failure in the community Am J Kidney Dis 58, 47-55.
(2011) Two pediatric patients with Von Hippel-Lindau disease type 2b: from patient to screening, from screening to patient J Pediatr Endocrinol Metab 24, 109-12.
(2011) Obesity and younger age at gout onset in a community-based cohort Arthritis Care Res (Hoboken) 63, 1108-14.
(2011) Dendritic cell generation and CD4+ CD25high FOXP3+ regulatory t cells in human head and neck carcinoma during radio-chemotherapy Eur J Med Res 16, 57-62.
(2011) [Hemicentral retinal artery occlusion due to oral contraceptives] Klin Monbl Augenheilkd 228, 729-33.
(2011) The MYH9/APOL1 region and chronic kidney disease in European-Americans Hum Mol Genet 20, 2450-6.
(2011) von Hippel-Lindau disease: a clinical and scientific review Eur J Hum Genet 19, 617-23.
(2011) The role of proton transporters in epithelial Wnt signaling pathways Pediatr Nephrol 26, 1523-7.
(2011) Clinical utility gene card for: Meckel syndrome Eur J Hum Genet 19.
(2011) Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia J Biol Chem 286, 14237-45.
(2011) CUBN is a gene locus for albuminuria J Am Soc Nephrol 22, 555-70.
(2011) Doppler-Sonographically Guided Resection of CNS Hemangioblastomas Neurosurgery.
(2011) Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy N Engl J Med 364, 616-26.
(2011) Synthesis of novel tricalcium phosphate-bioactive glass composite and functionalization with rhBMP-2 J Mater Sci Mater Med 22, 763-71.
(2011) Lower urinary connective tissue growth factor levels and incident CKD stage 3 in the general population Am J Kidney Dis 57, 841-9.
(2011) TRPP channels and polycystins Adv Exp Med Biol 704, 287-313.
(2011) TRPP channels and polycystins Adv Exp Med Biol 704, 287-313
(2011) Implications of autophagy for glomerular aging and disease Cell Tissue Res 343, 467-73.
(2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Nat Genet 43, 189-96.
(2011) Pluripotency factors regulate definitive endoderm specification through eomesodermin Genes Dev 25, 238-50.
(2011) GSK3beta inactivation in podocytes results in decreased phosphorylation of p70S6K accompanied by cytoskeletal rearrangements and inhibited motility Am J Physiol Renal Physiol 300, F1152-62.
(2011) Laparoscopic organ-sparing resection of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors World J Surg 35, 563-7.
(2011) mTOR and rapamycin in the kidney: signaling and therapeutic implications beyond immunosuppression Kidney Int 79, 502-11.
(2011) Strangers on a train: atypical glutamate receptors in the kidney glomerulus. Focus on "Functional NMDA receptors with atypical properties are expressed in podocytes" Am J Physiol Cell Physiol 300, C9-10.
(2011) Strangers on a train: atypical glutamate receptors in the kidney glomerulus. Focus on "Functional NMDA receptors with atypical properties are expressed in podocytes" Am J Physiol Cell Physiol 300, C9-10
(2011) Rapidly progressive hepatic alveolar echinococcosis in an ABO-incompatible renal transplant recipient Transpl Infect Dis 13, 278-84.
(2011) 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.
(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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