Xcode Life

Gene: VHL

Alternate names for this Gene: HRCA1|RCA1|VHL1|pVHL

Gene Summary: Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: von Hippel-Lindau tumor suppressor

Type of Gene: protein-coding

rs28940297 in VHL gene and Conventional (Clear Cell) Renal Cell Carcinoma

PMID 11986208 2002 Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma.

rs104893826 in VHL gene and ERYTHROCYTOSIS, FAMILIAL, 2

PMID 9663592 1998 Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

PMID 16452184 2006 Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis.

PMID 17661816 2007 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

PMID 24555745 2014 Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.

PMID 19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

PMID 17102083 2006 Frequent genetic changes in childhood pheochromocytomas.

PMID 15611064 2005 Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.

PMID 11331612 2001 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

PMID 22274579 2012 Clinical utility gene card for: familial erythrocytosis.

PMID 12393546 2003 Mutations in the VHL gene in sporadic apparently congenital polycythemia.

PMID 12844285 2003 Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

PMID 10567493 1999 The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.

PMID 12624160 2003 High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.

PMID 21715564 2011 VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.

PMID 7728151 1995 Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

PMID 19996202 2009 Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.

PMID 17688370 2007 Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.

PMID 27530247 2016 Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.

PMID 17024664 2007 Genotype-phenotype correlations in von Hippel-Lindau disease.

PMID 11309459 2001 Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system.

PMID 8956040 1996 Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

PMID 19270817 2009 Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

PMID 16142346 2005 Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.

PMID 23840444 2013 Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.

PMID 25867206 2016 Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

PMID 25562111 2015 Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.

PMID 27527340 2016 Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.

PMID 12807974 2003 Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.

PMID 9829911 1998 Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

PMID 10761708 2000 Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.

PMID 12202531 2002 Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

PMID 14722919 2004 Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

PMID 22071692 2011 Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation.

PMID 23772956 2013 Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.

PMID 23859443 2013 Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

PMID 19030229 2008 VHL type 2B mutations retain VBC complex form and function.

PMID 21606165 2011 The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.

PMID 14726398 2004 Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

PMID 12415268 2002 Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

PMID 17992257 2007 von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

PMID 11987242 2003 Endemic polycythemia in Russia: mutation in the VHL gene.

PMID 15574766 2004 In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.

PMID 9058738 1997 Congenital polycythemia in Chuvashia.

PMID 16210343 2006 Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

PMID 19494350 2009 Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.

PMID 20151405 2010 Genetic analysis of von Hippel-Lindau disease.

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 19029228 2009 Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?

PMID 19763184 2009 The Warburg effect is genetically determined in inherited pheochromocytomas.

PMID 8493574 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene.

PMID 15177666 2004 VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference?

PMID 17350623 2007 PKCzetaII is a target for degradation through the tumour suppressor protein pVHL.

PMID 10408776 1999 Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

PMID 20064270 2010 Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.

PMID 23632291 2013 A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease.

PMID 27439424 2016 Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

PMID 12114495 2002 Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

PMID 17922902 2007 A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C.

PMID 8707293 1996 Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.

PMID 25371412 2014 Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

PMID 7759077 1995 Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.

PMID 12510195 2003 Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.

PMID 16261165 2006 Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions.

PMID 11483638 2001 VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.

PMID 10878807 2000 Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.

PMID 11331613 2001 Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

PMID 14987375 2001 Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene.

PMID 10900011 2000 Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.

PMID 19602254 2009 Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.

PMID 9829912 1998 Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

PMID 9447969 1998 Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2.

PMID 9452032 1998 Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.

PMID 21362373 2011 Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

PMID 14973063 2004 Tumor suppressor von Hippel-Lindau (VHL) stabilization of Jade-1 protein occurs through plant homeodomains and is VHL mutation dependent.

PMID 19252526 2009 VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.

PMID 7987306 1994 Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

PMID 26920352 2016 Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.

PMID 15300849 2004 Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 19574279 2009 Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.

PMID 22799452 2012 Identification of 3 novel VHL germ-line mutations in Danish VHL patients.

PMID 19464396 2009 Germline mutations in the von Hippel-Lindau gene in Italian patients.

PMID 25563310 2015 Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

PMID 8730290 1996 Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

PMID 21463266 2011 Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

PMID 19228690 2009 VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.

PMID 7563486 1995 Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.

PMID 18567581 2008 Inadequate activation of the GTPase RhoA contributes to the lack of fibronectin matrix assembly in von Hippel-Lindau protein-defective renal cancer cells.

PMID 15642680 2005 Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

PMID 8772572 1996 Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease.

PMID 25557216 2015 Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?

PMID 16572651 2006 Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma.

PMID 17967880 2008 Cancer-causing mutations in a novel transcription-dependent nuclear export motif of VHL abrogate oxygen-dependent degradation of hypoxia-inducible factor.

PMID 11409863 2001 DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.

PMID 11865071 2002 Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity.

PMID 7977367 1994 Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.

PMID 20660572 2010 Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

PMID 9681856 1998 Genotype-phenotype correlations in von Hippel-Lindau disease.

PMID 982991 1976 [Clinical characteristics of peptic ulcer in metallurgists].

PMID 27057652 2016 Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.

PMID 19408298 2009 Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.

PMID 11257211 2001 "Is the P25L a ""real"" VHL mutation?"

PMID 10205047 1999 Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function.

PMID 27034144 2016 Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.

PMID 23842656 2013 p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.

PMID 24707167 2014 Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.

PMID 11739384 2002 Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein.

PMID 10823831 2000 Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.

PMID 20447124 2010 Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.

PMID 23626751 2013 P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.

PMID 12603429 2003 A type 2B von Hippel-Lindau family masquerading as a metastatic sporadic renal cell carcinoma.

PMID 23327821 2013 Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene.

PMID 26973240 2016 Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function.

PMID 8634692 1995 Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.

PMID 15002726 2004 [Surgical treatment of a pheocromocytoma bilateral in a 5 year old patient with the von Hippel-Lindau disease].

PMID 20855504 2010 Quantitative image analysis identifies pVHL as a key regulator of microtubule dynamic instability.

PMID 23407287 2013 Hemangioblastomas and neurogenic polyglobulia.

PMID 18446368 2008 Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

PMID 24206762 2014 Persistent exudative retinal detachment after photodynamic therapy and intravitreal bevacizumab injection for multiple retinal capillary hemangiomas in a patient with von Hippel-Lindau disease.

PMID 24301059 2014 VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

PMID 22357542 2012 Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

rs104893829 in VHL gene and Neoplasms

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs104893825 in VHL gene and Neoplastic Syndromes, Hereditary

PMID 12202531 2002 Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

PMID 8956040 1996 Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

PMID 8550742 1996 Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene.

PMID 8730290 1996 Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

PMID 19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

PMID 10587522 1999 Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein.

PMID 18209888 2007 Molecular analysis of the Von Hippel-Lindau (VHL) gene in a family with non-syndromic pheochromocytoma: the importance of genetic testing.

PMID 20151405 2010 Genetic analysis of von Hippel-Lindau disease.

PMID 21463266 2011 Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

PMID 24555745 2014 Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.

PMID 19808854 2009 Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome.

PMID 9663592 1998 Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

PMID 11331612 2001 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

PMID 17661816 2007 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

PMID 15300849 2004 Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

PMID 12393546 2003 Mutations in the VHL gene in sporadic apparently congenital polycythemia.

PMID 24581539 2014 Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.

PMID 23102223 2012 Dissecting fragment-based lead discovery at the von Hippel-Lindau protein:hypoxia inducible factor 1α protein-protein interface.

PMID 24729484 2014 The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.

PMID 21454469 2011 Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.

PMID 26323595 2015 A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family.

PMID 23397066 2013 Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green.

PMID 22145147 2011 Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease.

PMID 12004076 2002 Structure of an HIF-1alpha -pVHL complex: hydroxyproline recognition in signaling.

PMID 25661653 2015 Insights into Cullin-RING E3 ubiquitin ligase recruitment: structure of the VHL-EloBC-Cul2 complex.

PMID 11058902 2000 Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.

PMID 24727139 2015 Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.

PMID 17997830 2007 Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.

PMID 24518179 2014 In Silico Analysis Identification of a Novel Germ-Line VHL Mutation in a Patient of Malignant Pheochromocytoma.

PMID 9681856 1998 Genotype-phenotype correlations in von Hippel-Lindau disease.

PMID 7977367 1994 Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.

PMID 20567917 2010 Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.

PMID 22357542 2012 Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

PMID 9829912 1998 Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

PMID 19602254 2009 Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.

PMID 15935760 2005 Folding and quality control of the VHL tumor suppressor proceed through distinct chaperone pathways.

PMID 27811160 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 17102088 2006 von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas.

PMID 15607616 2004 Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.

PMID 19270817 2009 Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

PMID 22241717 2012 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

PMID 17102082 2006 Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

PMID 21389259 2011 Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.

PMID 22799452 2012 Identification of 3 novel VHL germ-line mutations in Danish VHL patients.

PMID 21362373 2011 Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

PMID 9829911 1998 Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

PMID 25371412 2014 Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

PMID 23859443 2013 Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

PMID 23660872 2013 Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.

PMID 16969113 2006 The positive regulation of p53 by the tumor suppressor VHL.

PMID 14722919 2004 Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

PMID 16210343 2006 Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

PMID 24969085 2014 An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

PMID 11987242 2003 Endemic polycythemia in Russia: mutation in the VHL gene.

PMID 14604959 2004 The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.

PMID 12844285 2003 Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

PMID 12415268 2002 Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

PMID 24728327 2014 Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

PMID 27651169 2016 Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

PMID 21876117 2011 Chuvash polycythemia VHLR200W mutation is associated with down-regulation of hepcidin expression.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 15177666 2004 VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference?

PMID 19030229 2008 VHL type 2B mutations retain VBC complex form and function.

PMID 17992257 2007 von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

PMID 15574766 2004 In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.

PMID 17264095 2007 VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.

PMID 18836774 2008 Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.

PMID 21993671 2012 Pulmonary artery pressure and iron deficiency in patients with upregulation of hypoxia sensing due to homozygous VHL(R200W) mutation (Chuvash polycythemia).

PMID 21606165 2011 The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.

PMID 23403324 2013 The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).

PMID 23015148 2013 Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 19029228 2009 Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 19574279 2009 Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.

PMID 14500403 2003 Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

PMID 19958924 2009 Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome.

PMID 19763184 2009 The Warburg effect is genetically determined in inherited pheochromocytomas.

PMID 20660572 2010 Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

PMID 24132471 2014 Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations.

PMID 7553625 1995 Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations.

PMID 17024664 2007 Genotype-phenotype correlations in von Hippel-Lindau disease.

PMID 18580449 2008 Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.

PMID 25562111 2015 Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.

PMID 10823831 2000 Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.

PMID 19464396 2009 Germline mutations in the von Hippel-Lindau gene in Italian patients.

PMID 8634692 1995 Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.

PMID 27057652 2016 Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.

PMID 16952288 2006 Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature.

PMID 11257211 2001 "Is the P25L a ""real"" VHL mutation?"

PMID 27527340 2016 Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.

PMID 8707293 1996 Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.

PMID 22649785 2012 The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer.

PMID 7728151 1995 Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

PMID 17350623 2007 PKCzetaII is a target for degradation through the tumour suppressor protein pVHL.

PMID 10567493 1999 The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.

PMID 10408776 1999 Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

PMID 25078357 2014 Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

PMID 27439424 2016 Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

PMID 25715769 2016 A Case of von Hippel-Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas.

PMID 15611064 2005 Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.

PMID 12510195 2003 Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.

PMID 21204227 2011 Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.

PMID 27617348 2016 VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease.

PMID 24301059 2014 VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

PMID 25720320 2015 SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

PMID 7987327 1994 A novel mutation in the von Hippel-Lindau gene.

PMID 7987306 1994 Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

PMID 27539324 2016 Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

PMID 26812297 2015 Sunitinib treatment for multifocal renal cell carcinoma (RCC) and pancreatic neuroendocrine tumor (NET) in patient with Von Hippel-Lindau disease. Case Report.

PMID 28944243 2017 Clinical management of pheochromocytoma and paraganglioma in Singapore: missed opportunities for genetic testing.

PMID 25952756 2015 Genotype-phenotype analysis of von Hippel-Lindau syndrome in fifteen Indian families.

PMID 10900011 2000 Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 22105611 2011 Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease.

PMID 20518900 2010 Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma.

PMID 12114495 2002 Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

PMID 25867206 2016 Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

PMID 19009041 2008 Genetic counseling in renal masses.

PMID 15642680 2005 Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

PMID 7563486 1995 Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.

PMID 23772956 2013 Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.

PMID 16452184 2006 Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis.

PMID 8772572 1996 Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease.

PMID 19228690 2009 VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.

PMID 23298237 2013 Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma.

PMID 17688370 2007 Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.

PMID 16502427 2006 The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

PMID 20233476 2004 Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.

PMID 27311873 2016 Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.

PMID 17906660 2007 Nuclear E-cadherin and VHL immunoreactivity are prognostic indicators of clear-cell renal cell carcinoma.

PMID 8592333 1995 Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

PMID 14636579 2003 Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding.

PMID 14556007 2003 Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein.

PMID 10766184 2000 VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation.

PMID 11409863 2001 DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.

PMID 20846682 2010 Functional and oncologic outcomes of partial adrenalectomy for pheochromocytoma in patients with von Hippel-Lindau syndrome after at least 5 years of followup.

PMID 9435426 1998 Pheochromocytoma in von Hippel-Lindau disease: clinical presentation and mutation analysis in a large, multigenerational kindred.

PMID 23318261 2013 Proteostasis modulators prolong missense VHL protein activity and halt tumor progression.

PMID 23673869 2014 Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family.

PMID 10761708 2000 Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.

PMID 18446368 2008 Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

PMID 20120764 2009 Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family.

PMID 24466223 2014 Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.

PMID 24707167 2014 Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.

PMID 23842656 2013 p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.

PMID 9215674 1997 Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

PMID 12050673 2002 Structural basis for the recognition of hydroxyproline in HIF-1 alpha by pVHL.

PMID 22105711 2012 Effects of point mutations in pVHL on the binding of HIF-1α.

PMID 22071692 2011 Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation.

PMID 11160785 2001 Genetic testing for cancer predisposition.

PMID 12500216 2003 Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.

PMID 24678776 2014 De novo VHL germline mutation detected in a patient with mild clinical phenotype of von Hippel-Lindau disease.

PMID 27530247 2016 Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.

PMID 20145706 2009 VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.

PMID 8829648 1996 Identification of two sporadically derived mutations in the Von Hippel-Lindau gene.

PMID 21715564 2011 VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.

PMID 22683710 2012 BAP1 loss defines a new class of renal cell carcinoma.

PMID 23788753 2013 Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma.

PMID 16847331 2006 Priming-dependent phosphorylation and regulation of the tumor suppressor pVHL by glycogen synthase kinase 3.

PMID 19408298 2009 Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.

PMID 11921283 2002 Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.

PMID 16585181 2006 Regulation of E-cadherin expression by VHL and hypoxia-inducible factor.

PMID 27179072 2016 Aggregation dynamics and identification of aggregation-prone mutants of the von Hippel-Lindau tumor suppressor protein.

PMID 15956968 2005 Synergistic growth inhibition by Iressa and Rapamycin is modulated by VHL mutations in renal cell carcinoma.

rs104893827 in VHL gene and Pheochromocytoma

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

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PMID 11921283 2002 Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.

PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 7660122 1995 Inhibition of transcription elongation by the VHL tumor suppressor protein.

rs104893824 in VHL gene and Von Hippel-Lindau Syndrome

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 8592333 1995 Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.

PMID 19030229 2008 VHL type 2B mutations retain VBC complex form and function.

PMID 8825918 1995 Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.

PMID 24893135 2014 Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 7728151 1995 Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype.

PMID 8956040 1996 Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

PMID 9452032 1998 Germline mutations detected in the von Hippel-Lindau disease tumor suppressor gene by Southern blot and direct genomic DNA sequencing.

PMID 9829912 1998 Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

PMID 8863170 1996 Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A.

PMID 24319509 2013 Canadian guideline on genetic screening for hereditary renal cell cancers.

PMID 9829911 1998 Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.

PMID 8730290 1996 Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 9452106 1998 Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.

PMID 21713522 2011 Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A.

PMID 8493574 1993 Identification of the von Hippel-Lindau disease tumor suppressor gene.

PMID 8634692 1995 Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.

PMID 17526729 2007 Hypoxia-inducible factor linked to differential kidney cancer risk seen with type 2A and type 2B VHL mutations.

PMID 7987306 1994 Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.

PMID 19602254 2009 Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.

PMID 10533030 1999 We have identified a family segregating von Hippel-Lindau (VHL) disease with a previously unreported T547A mutation in exon 1 of the VHL gene that causes a Tyr112 to Asn missense alteration in the protein.

PMID 10408776 1999 Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.

PMID 10635329 1999 Formation of the VHL-elongin BC tumor suppressor complex is mediated by the chaperonin TRiC.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 10761708 2000 Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.

PMID 15574766 2004 In vitro and in vivo models analyzing von Hippel-Lindau disease-specific mutations.

PMID 16502427 2006 The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

PMID 10627136 1998 Variable penetrance of familial pheochromocytoma associated with the von Hipple Lindau gene mutation, S68W. Mutations in brief no. 150. Online.

PMID 10533030 1999 Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene.

PMID 16452184 2006 Characterization of a von Hippel Lindau pathway involved in extracellular matrix remodeling, cell invasion, and angiogenesis.

PMID 15611064 2005 Inactivation of VHL by tumorigenic mutations that disrupt dynamic coupling of the pVHL.hypoxia-inducible transcription factor-1alpha complex.

PMID 11331612 2001 von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

PMID 17102083 2006 Frequent genetic changes in childhood pheochromocytomas.

PMID 9663592 1998 Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

PMID 24555745 2014 Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.

PMID 17661816 2007 Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.

PMID 19336503 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.

PMID 25563310 2015 Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.

PMID 21715564 2011 VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.

PMID 12624160 2003 High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.

PMID 20518900 2010 Molecularly genetic analysis of von Hippel-Lindau associated central nervous system hemangioblastoma.

PMID 19408298 2009 Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.

PMID 7977367 1994 Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma.

PMID 8825919 1995 Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method.

PMID 10563480 1999 Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BESS).

PMID 17024664 2007 Genotype-phenotype correlations in von Hippel-Lindau disease.

PMID 15300849 2004 Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

PMID 10567493 1999 The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.

PMID 12202531 2002 Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

PMID 23036577 2013 Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma.

PMID 19949673 2009 Clinical characteristics of renal cell carcinoma in Korean patients with von Hippel-Lindau disease compared to sporadic bilateral or multifocal renal cell carcinoma.

PMID 22156657 2012 Growth kinetics in von Hippel-Lindau-associated renal cell carcinoma.

PMID 11309459 2001 Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system.

PMID 11114638 2000 Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease.

PMID 10766184 2000 VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation.

PMID 17688370 2007 Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease.

PMID 16488999 2006 Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer.

PMID 22683710 2012 BAP1 loss defines a new class of renal cell carcinoma.

PMID 9681856 1998 Genotype-phenotype correlations in von Hippel-Lindau disease.

PMID 27530247 2016 Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.

PMID 19996202 2009 Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.

PMID 12853836 2003 Overproduction of vascular endothelial growth factor related to von Hippel-Lindau tumor suppressor gene mutations and hypoxia-inducible factor-1 alpha expression in renal cell carcinomas.

PMID 11921283 2002 Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.

PMID 16142346 2005 Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.

PMID 16314641 2005 Genetic testing in pheochromocytoma or functional paraganglioma.

PMID 17922902 2007 A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C.

PMID 19270817 2009 Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.

PMID 23840444 2013 Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.

PMID 12510195 2003 Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.

PMID 10340905 1999 Trichloroethylene exposure and specific somatic mutations in patients with renal cell carcinoma.

PMID 25078357 2014 Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

PMID 19309509 2009 Prediction of disease-related mutations affecting protein localization.

PMID 17001110 2006 The N131S mutation in the von Hippel-Lindau gene in a Japanese family with pheochromocytoma and hemangioblastomas.

PMID 20151405 2010 Genetic analysis of von Hippel-Lindau disease.

PMID 8641976 1996 Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families.

PMID 11536052 2001 VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium.

PMID 24446253 2014 VHL and HIF-1α: gene variations and prognosis in early-stage clear cell renal cell carcinoma.

PMID 14722919 2004 Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations.

PMID 19293973 2009 Hereditary renal cell carcinoma associated with von Hippel-Lindau disease: a description of a Nova Scotia cohort.

PMID 22105711 2012 Effects of point mutations in pVHL on the binding of HIF-1α.

PMID 22071692 2011 Phosphorylation of von Hippel-Lindau protein by checkpoint kinase 2 regulates p53 transactivation.

PMID 12807974 2003 Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.

PMID 21258414 2011 Mutations of the von Hippel-Lindau gene confer increased susceptibility to natural killer cells of clear-cell renal cell carcinoma.

PMID 9209471 1997 Establishment and characterization of a renal cell carcinoma line from a patient with von Hippel-Lindau syndrome.

PMID 25562111 2015 Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.

PMID 25867206 2016 Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

PMID 28379443 2017 Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system.

PMID 27527340 2016 Clinical and molecular characteristics of East Asian patients with von Hippel-Lindau syndrome.

PMID 23772956 2013 Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.

PMID 20560986 2011 Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.

PMID 23859443 2013 Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

PMID 11058902 2000 Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.

PMID 26503325 2015 E2-EPF UCP regulates stability and functions of missense mutant pVHL via ubiquitin mediated proteolysis.

PMID 10587522 1999 Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein.

PMID 10088816 1999 Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation.

PMID 12538644 2003 Multiple splice variants of the human HIF-3 alpha locus are targets of the von Hippel-Lindau E3 ubiquitin ligase complex.

PMID 20583150 2010 Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.

PMID 23660872 2013 Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways.

PMID 19096585 2007 Spinal cord hemangioblastoma : diagnosis and clinical outcome after surgical treatment.

PMID 9058738 1997 Congenital polycythemia in Chuvashia.

PMID 17992257 2007 von Hippel-Lindau mutation in mice recapitulates Chuvash polycythemia via hypoxia-inducible factor-2alpha signaling and splenic erythropoiesis.

PMID 12415268 2002 The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with respect to a C-->T missense mutation in VHL, causing an arginine-to-tryptophan change at amino-acid residue 200 (Arg200Trp), was identified in all individuals affected with Chuvash polycythemia.

PMID 14726398 2004 Congenital disorder of oxygen sensing: association of the homozygous Chuvash polycythemia VHL mutation with thrombosis and vascular abnormalities but not tumors.

PMID 21606165 2011 The heterozygote advantage of the Chuvash polycythemia VHLR200W mutation may be protection against anemia.

PMID 11987242 2003 Endemic polycythemia in Russia: mutation in the VHL gene.

PMID 19494350 2009 Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.

PMID 16210343 2006 Von Hippel-Lindau-dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster.

PMID 24339559 2013 Novel three missense mutations observed in Von Hippel-Lindau gene in a patient reported with renal cell carcinoma.

PMID 21362373 2011 Molecular basis of von Hippel-Lindau syndrome in Chinese patients.

PMID 12000816 2002 Germ-line mutations in nonsyndromic pheochromocytoma.

PMID 19029228 2009 Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?

PMID 19574279 2009 Germline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.

PMID 14500403 2003 Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

PMID 19958924 2009 Local-regional recurrence of sporadic or syndromic abdominal extra-adrenal paraganglioma: incidence, characteristics, and outcome.

PMID 19763184 2009 The Warburg effect is genetically determined in inherited pheochromocytomas.

PMID 20660572 2010 Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.

PMID 15932632 2005 Prevalence of von Hippel-Lindau gene mutations in sporadic renal cell carcinoma: results from The Netherlands cohort study.

PMID 15177666 2004 VHL mutations in renal cell cancer: does occupational exposure to trichloroethylene make a difference?

PMID 21389259 2011 Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation.

PMID 10458336 1999 Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma.

PMID 11865071 2002 Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity.

PMID 10878807 2000 Ubiquitination of hypoxia-inducible factor requires direct binding to the beta-domain of the von Hippel-Lindau protein.

PMID 18584357 2008 A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma.

PMID 18544564 2008 Hypoxia-inducible factor-2alpha regulates the expression of TRAIL receptor DR5 in renal cancer cells.

PMID 17060462 2007 VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail.

PMID 19228690 2009 VHL mutations linked to type 2C von Hippel-Lindau disease cause extensive structural perturbations in pVHL.

PMID 18580449 2008 Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.

PMID 19464396 2009 Germline mutations in the von Hippel-Lindau gene in Italian patients.

PMID 22105611 2011 Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease.

PMID 22357542 2012 Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.

PMID 17102082 2006 Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients.

PMID 22825683 2012 Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

PMID 16952288 2006 Pancreatic involvement in von Hippel-Lindau disease: report of two cases and review of the literature.

PMID 11257211 2001 "Is the P25L a ""real"" VHL mutation?"

PMID 19304954 2009 Zebrafish mutants in the von Hippel-Lindau tumor suppressor display a hypoxic response and recapitulate key aspects of Chuvash polycythemia.

PMID 18836774 2008 Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.

PMID 17350623 2007 PKCzetaII is a target for degradation through the tumour suppressor protein pVHL.

PMID 12114495 2002 Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene.

PMID 27439424 2016 Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.

PMID 23632291 2013 A deletion mutation of the VHL gene associated with a patient with sporadic von Hippel-Lindau disease.

PMID 20064270 2010 Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease.

PMID 25078357 2014 Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.

PMID 15109448 2004 Genetic study of a large Chinese kindred with von Hippel-Lindau disease.

PMID 11739384 2002 Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein.

PMID 11331613 2001 Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

PMID 21454469 2011 Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.

PMID 8707293 1996 Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.

PMID 16775032 2006 Formation of primary cilia in the renal epithelium is regulated by the von Hippel-Lindau tumor suppressor protein.

PMID 23842656 2013 p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.

PMID 28388566 2017 Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients.

PMID 17406817 2007 A novel Von Hippel-Lindau case with germline mutation at codon 167 (CGG to TGG) having endocrine microadenomatosis of the pancreas.

PMID 25371412 2014 Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis.

PMID 19280651 2009 Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.

PMID 16261165 2006 Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions.

PMID 12351569 2002 The pressure rises: update on the genetics of phaeochromocytoma.

PMID 7759077 1995 Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect.

PMID 11709017 2001 Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.

PMID 11483638 2001 VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality.

PMID 10900011 2000 Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products.

PMID 14987375 2001 Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene.

PMID 9447969 1998 Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complexes containing elongins B/C and Cul2.

PMID 10326868 1999 Loss of HNF1alpha function in human renal cell carcinoma: frequent mutations in the VHL gene but not the HNF1alpha gene.

PMID 19252526 2009 VHL Type 2B gene mutation moderates HIF dosage in vitro and in vivo.

PMID 8956040 1996 The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro.

PMID 14973063 2004 Tumor suppressor von Hippel-Lindau (VHL) stabilization of Jade-1 protein occurs through plant homeodomains and is VHL mutation dependent.

PMID 26920352 2016 Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma.

PMID 25119015 2014 Bilateral pheochromocytoma/intra-adrenal paraganglioma in von Hippel-Lindau patient causing acute myocardial infarction.

PMID 23512077 2013 Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing.

PMID 9156047 1997 Molecular diagnosis of von Hippel-Lindau disease in a kindred with a predominance of familial phaeochromocytoma.

PMID 22799452 2012 Identification of 3 novel VHL germ-line mutations in Danish VHL patients.

PMID 17102069 2006 Characteristics of pheochromocytoma in a 4- to 20-year-old population.

PMID 28469506 2017 Genotype-Phenotype Correlation in Patients With Germline Mutations of VHL, RET, SDHB, and SDHD Genes: Thai Experience.

PMID 8956040 1996 The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro.

PMID 21463266 2011 Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.

PMID 18567581 2008 Inadequate activation of the GTPase RhoA contributes to the lack of fibronectin matrix assembly in von Hippel-Lindau protein-defective renal cancer cells.

PMID 12414898 2002 VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.

PMID 7563486 1995 Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.

PMID 12844285 2003 Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.

PMID 15642680 2005 Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

PMID 8772572 1996 Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease.

PMID 15881703 2005 [von Hippel-Lindau syndrome: molecular diagnosis of two Lebanese families and analysis of the genotype-phenotype correlation].

PMID 21784903 2011 Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma.

PMID 11409863 2001 DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.

PMID 16572651 2006 Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma.

PMID 17967880 2008 Cancer-causing mutations in a novel transcription-dependent nuclear export motif of VHL abrogate oxygen-dependent degradation of hypoxia-inducible factor.

PMID 25557216 2015 Metastatic phaeochromocytoma in a 23-year-old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?

PMID 7553625 1995 Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations.

PMID 17906660 2007 Nuclear E-cadherin and VHL immunoreactivity are prognostic indicators of clear-cell renal cell carcinoma.

PMID 23673869 2014 This is the first study that identified VHL p.A149S mutation in a Turkish family with VHL syndrome.

PMID 9435426 1998 Pheochromocytoma in von Hippel-Lindau disease: clinical presentation and mutation analysis in a large, multigenerational kindred.

PMID 23318261 2013 Proteostasis modulators prolong missense VHL protein activity and halt tumor progression.

PMID 12114475 2002 Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter.

PMID 982991 1976 [Clinical characteristics of peptic ulcer in metallurgists].

PMID 9143408 1997 Mutational state of von Hippel-Lindau and adenomatous polyposis coli genes in renal tumors.

PMID 8187067 1994 Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas.

PMID 17919893 2007 VHL protein alterations in sporadic renal cell carcinoma.

PMID 27057652 2016 Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.

PMID 27034144 2016 Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.

PMID 7915601 1994 Mutations of the VHL tumour suppressor gene in renal carcinoma.

PMID 11257211 2001 DNA sequence analysis showed two VHL gene mutations, P25L and P86R, in an individual with a clinical diagnosis of VHL disease.

PMID 11688398 2001 Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography.

PMID 17407064 2007 [Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].

PMID 10205047 1999 Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function.

PMID 18446368 2008 Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.

PMID 10697963 2000 A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene.

PMID 23842656 2013 p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.

PMID 24707167 2014 Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease.

PMID 25371412 2014 We report here an atypical family bearing two VHL gene mutations in cis (R200W and R161Q), together with phenotypic analysis, structural modeling, functional, and transcriptomic studies of these mutants in comparison with classical mutants involved in the different VHL phenotypes.

PMID 10823831 2000 Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.

PMID 20447124 2010 Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.

PMID 12056827 2002 Identification of a deubiquitinating enzyme subfamily as substrates of the von Hippel-Lindau tumor suppressor.

PMID 26973240 2016 Phosphorylation-dependent cleavage regulates von Hippel Lindau proteostasis and function.

PMID 12603429 2003 A type 2B von Hippel-Lindau family masquerading as a metastatic sporadic renal cell carcinoma.

PMID 23327821 2013 Bilateral pheochromocytomas in a child who had hemihypertrophy and alteration in the VHL gene.

PMID 23626751 2013 P.Arg82Leu von Hippel-Lindau (VHL) gene mutation among three members of a family with familial bilateral pheochromocytoma in India: molecular analysis and in silico characterization.

PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 17997830 2007 Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.

PMID 15002726 2004 [Surgical treatment of a pheocromocytoma bilateral in a 5 year old patient with the von Hippel-Lindau disease].

PMID 23407287 2013 Hemangioblastomas and neurogenic polyglobulia.

PMID 20855504 2010 Quantitative image analysis identifies pVHL as a key regulator of microtubule dynamic instability.

PMID 20054297 2010 Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

PMID 23788753 2013 Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma.

PMID 23606570 2013 Combined mutation of Vhl and Trp53 causes renal cysts and tumours in mice.

PMID 24206762 2014 Persistent exudative retinal detachment after photodynamic therapy and intravitreal bevacizumab injection for multiple retinal capillary hemangiomas in a patient with von Hippel-Lindau disease.

PMID 24301059 2014 VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.

PMID 18676741 2008 Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors.

PMID 16809612 2006 Neutrophils from patients with heterozygous germline mutations in the von Hippel Lindau protein (pVHL) display delayed apoptosis and enhanced bacterial phagocytosis.

PMID 29748190 2018 Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.