Condition: ERYTHROCYTOSIS, FAMILIAL, 2


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.