FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1964779968> ?p ?o ?g. }

• W1964779968 endingPage "149" @default.
• W1964779968 startingPage "143" @default.
• W1964779968 abstract "von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome resulting from mutations in the VHL tumor suppressor gene. VHL disease displays marked variation in expression and the presence of pheochromocytoma has been linked to missense VHL mutations. We analyzed genotype–phenotype correlations in 573 individuals with VHL disease. Routine clinical and radiological surveillance of VHL patients and at-risk relatives was associated with increased detection of retinal angiomatosis (73 vs. 59% of cases) and a reduction in age at diagnosis of renal cell carcinoma (RCC) (44.0±10.9 vs. 39.7±10.3 years). We confirmed the association of pheochromocytoma with missense mutations described previously, but stratifying missense mutations into those that resulted in substitution of a surface amino acid and those that disrupted structural integrity demonstrated that surface amino acid substitutions conferred a higher pheochromocytoma risk. Age at first manifestation of VHL disease was significantly earlier (P=0.001), and age-related risks of retinal angiomas and RCC were higher (P=0.022 and P=0.0008, respectively) in individuals with a nonsense or frameshift mutation than in those with deletions or missense mutations that disrupted the structural integrity of the VHL gene product (pVHL). These results extend genotype–phenotype–protein structure correlations in VHL disease and provide a baseline for future chemoprevention studies in VHL disease. Hum Mutat 28(2), 143–149, 2007. © 2006 Wiley-Liss, Inc." @default.
• W1964779968 created "2016-06-24" @default.
• W1964779968 creator A5023235230 @default.
• W1964779968 creator A5029313570 @default.
• W1964779968 creator A5034061594 @default.
• W1964779968 creator A5036008455 @default.
• W1964779968 creator A5089250585 @default.
• W1964779968 creator A5090532039 @default.
• W1964779968 date "2007-02-01" @default.
• W1964779968 modified "2023-10-16" @default.
• W1964779968 title "Genotype-phenotype correlations in von Hippel-Lindau disease" @default.
• W1964779968 cites W1499807572 @default.
• W1964779968 cites W1749022239 @default.
• W1964779968 cites W1965690355 @default.
• W1964779968 cites W1971615052 @default.
• W1964779968 cites W1972618930 @default.
• W1964779968 cites W1976752846 @default.
• W1964779968 cites W1979891446 @default.
• W1964779968 cites W1981124017 @default.
• W1964779968 cites W1994030513 @default.
• W1964779968 cites W1994303821 @default.
• W1964779968 cites W2007836147 @default.
• W1964779968 cites W2011810742 @default.
• W1964779968 cites W2022064738 @default.
• W1964779968 cites W2024355133 @default.
• W1964779968 cites W2035734782 @default.
• W1964779968 cites W2053671840 @default.
• W1964779968 cites W2055571033 @default.
• W1964779968 cites W2057317080 @default.
• W1964779968 cites W2067324420 @default.
• W1964779968 cites W2068555261 @default.
• W1964779968 cites W2070759851 @default.
• W1964779968 cites W2075887428 @default.
• W1964779968 cites W2080374319 @default.
• W1964779968 cites W2082917554 @default.
• W1964779968 cites W2088037343 @default.
• W1964779968 cites W2090648810 @default.
• W1964779968 cites W2090789862 @default.
• W1964779968 cites W2091286271 @default.
• W1964779968 cites W2092759144 @default.
• W1964779968 cites W2093711185 @default.
• W1964779968 cites W2095208234 @default.
• W1964779968 cites W2117916297 @default.
• W1964779968 cites W2118167935 @default.
• W1964779968 cites W2131637236 @default.
• W1964779968 cites W2134955443 @default.
• W1964779968 cites W2135034560 @default.
• W1964779968 cites W2141275515 @default.
• W1964779968 cites W2149589207 @default.
• W1964779968 cites W2152630227 @default.
• W1964779968 cites W2152890695 @default.
• W1964779968 cites W2169246212 @default.
• W1964779968 cites W2172170481 @default.
• W1964779968 cites W2172210182 @default.
• W1964779968 cites W4235122669 @default.
• W1964779968 doi "https://doi.org/10.1002/humu.20385" @default.
• W1964779968 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17024664" @default.
• W1964779968 hasPublicationYear "2007" @default.
• W1964779968 type Work @default.
• W1964779968 sameAs 1964779968 @default.
• W1964779968 citedByCount "205" @default.
• W1964779968 countsByYear W19647799682012 @default.
• W1964779968 countsByYear W19647799682013 @default.
• W1964779968 countsByYear W19647799682014 @default.
• W1964779968 countsByYear W19647799682015 @default.
• W1964779968 countsByYear W19647799682016 @default.
• W1964779968 countsByYear W19647799682017 @default.
• W1964779968 countsByYear W19647799682018 @default.
• W1964779968 countsByYear W19647799682019 @default.
• W1964779968 countsByYear W19647799682020 @default.
• W1964779968 countsByYear W19647799682021 @default.
• W1964779968 countsByYear W19647799682022 @default.
• W1964779968 countsByYear W19647799682023 @default.
• W1964779968 crossrefType "journal-article" @default.
• W1964779968 hasAuthorship W1964779968A5023235230 @default.
• W1964779968 hasAuthorship W1964779968A5029313570 @default.
• W1964779968 hasAuthorship W1964779968A5034061594 @default.
• W1964779968 hasAuthorship W1964779968A5036008455 @default.
• W1964779968 hasAuthorship W1964779968A5089250585 @default.
• W1964779968 hasAuthorship W1964779968A5090532039 @default.
• W1964779968 hasBestOaLocation W19647799681 @default.
• W1964779968 hasConcept C104317684 @default.
• W1964779968 hasConcept C126322002 @default.
• W1964779968 hasConcept C127716648 @default.
• W1964779968 hasConcept C134018914 @default.
• W1964779968 hasConcept C135763542 @default.
• W1964779968 hasConcept C2778886567 @default.
• W1964779968 hasConcept C2779134260 @default.
• W1964779968 hasConcept C2779512018 @default.
• W1964779968 hasConcept C29906990 @default.
• W1964779968 hasConcept C501734568 @default.
• W1964779968 hasConcept C502942594 @default.
• W1964779968 hasConcept C54355233 @default.
• W1964779968 hasConcept C71924100 @default.
• W1964779968 hasConcept C75563809 @default.
• W1964779968 hasConcept C86803240 @default.
• W1964779968 hasConcept C96777560 @default.
• W1964779968 hasConceptScore W1964779968C104317684 @default.

• next