Good and bad consequences of proximal tubular dysfunction: lessons from human genetics
How to form a mucociliary epithelium by actin-based pushing forces
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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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