Matches in SemOpenAlex for { <https://semopenalex.org/work/W2044464211> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2044464211 endingPage "1705" @default.
- W2044464211 startingPage "1705" @default.
- W2044464211 abstract "The neurofibromatosis type 1 (NF1) gene has been localized to the pericentromeric region of the long arm of chromosome 17. A chronology of events leading to the cloning of the NF1 gene is offered as a summary of modern gene hunting techniques. The gene was identified by its location rather than its function using positional cloning. Linkage analysis, based on DNA polymorphisms, is already available for prenatal and presymptomatic testing. This technique works only in cases when affected family members are available and is useless in spontaneous cases. The complete NF1 gene is huge, has a large number of exons, and is approximately 240,000 base pairs long. Its large size is consistent with the very high spontaneous mutation rate. The NF1 gene is evolutionarily conserved and expressed ubiquitously, not just in neural crest derivatives. Functional and structural homology with GAP (GTP [guanosine triphosphate]ase-activating protein) has been described. The GAP controls (or is controlled by) the ras oncogene. Aberration of ras function, which plays a fundamental role in growth, development, and differentiation, may play a role in the NF1 phenotype. Direct DNA diagnosis of mutations in the NF1 gene in clinical practice is premature. Current data suggest that the NF1 gene product may act as a tumor suppressor." @default.
- W2044464211 created "2016-06-24" @default.
- W2044464211 creator A5043396128 @default.
- W2044464211 creator A5068242165 @default.
- W2044464211 date "1991-11-01" @default.
- W2044464211 modified "2023-09-30" @default.
- W2044464211 title "The Hunt for the Neurofibromatosis Gene" @default.
- W2044464211 cites W135244689 @default.
- W2044464211 cites W1971602793 @default.
- W2044464211 cites W1974534820 @default.
- W2044464211 cites W1988291930 @default.
- W2044464211 cites W1990880437 @default.
- W2044464211 cites W2022971724 @default.
- W2044464211 cites W2044356784 @default.
- W2044464211 cites W2071893342 @default.
- W2044464211 cites W2079846997 @default.
- W2044464211 cites W2090331818 @default.
- W2044464211 cites W2117552308 @default.
- W2044464211 cites W2136208548 @default.
- W2044464211 cites W2138616826 @default.
- W2044464211 cites W2150143651 @default.
- W2044464211 cites W2151067616 @default.
- W2044464211 cites W2159096148 @default.
- W2044464211 cites W2161024497 @default.
- W2044464211 cites W35925620 @default.
- W2044464211 cites W85984135 @default.
- W2044464211 cites W1587993374 @default.
- W2044464211 doi "https://doi.org/10.1001/archderm.1991.01680100105014" @default.
- W2044464211 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1952978" @default.
- W2044464211 hasPublicationYear "1991" @default.
- W2044464211 type Work @default.
- W2044464211 sameAs 2044464211 @default.
- W2044464211 citedByCount "31" @default.
- W2044464211 countsByYear W20444642112012 @default.
- W2044464211 countsByYear W20444642112016 @default.
- W2044464211 countsByYear W20444642112018 @default.
- W2044464211 countsByYear W20444642112019 @default.
- W2044464211 countsByYear W20444642112020 @default.
- W2044464211 countsByYear W20444642112022 @default.
- W2044464211 crossrefType "journal-article" @default.
- W2044464211 hasAuthorship W2044464211A5043396128 @default.
- W2044464211 hasAuthorship W2044464211A5068242165 @default.
- W2044464211 hasConcept C104317684 @default.
- W2044464211 hasConcept C150194340 @default.
- W2044464211 hasConcept C170932241 @default.
- W2044464211 hasConcept C195286587 @default.
- W2044464211 hasConcept C23069440 @default.
- W2044464211 hasConcept C2778984943 @default.
- W2044464211 hasConcept C3020804800 @default.
- W2044464211 hasConcept C30481170 @default.
- W2044464211 hasConcept C36823959 @default.
- W2044464211 hasConcept C54355233 @default.
- W2044464211 hasConcept C84597430 @default.
- W2044464211 hasConcept C86803240 @default.
- W2044464211 hasConceptScore W2044464211C104317684 @default.
- W2044464211 hasConceptScore W2044464211C150194340 @default.
- W2044464211 hasConceptScore W2044464211C170932241 @default.
- W2044464211 hasConceptScore W2044464211C195286587 @default.
- W2044464211 hasConceptScore W2044464211C23069440 @default.
- W2044464211 hasConceptScore W2044464211C2778984943 @default.
- W2044464211 hasConceptScore W2044464211C3020804800 @default.
- W2044464211 hasConceptScore W2044464211C30481170 @default.
- W2044464211 hasConceptScore W2044464211C36823959 @default.
- W2044464211 hasConceptScore W2044464211C54355233 @default.
- W2044464211 hasConceptScore W2044464211C84597430 @default.
- W2044464211 hasConceptScore W2044464211C86803240 @default.
- W2044464211 hasIssue "11" @default.
- W2044464211 hasLocation W20444642111 @default.
- W2044464211 hasLocation W20444642112 @default.
- W2044464211 hasOpenAccess W2044464211 @default.
- W2044464211 hasPrimaryLocation W20444642111 @default.
- W2044464211 hasRelatedWork W2000095771 @default.
- W2044464211 hasRelatedWork W2031285276 @default.
- W2044464211 hasRelatedWork W2044464211 @default.
- W2044464211 hasRelatedWork W2051362186 @default.
- W2044464211 hasRelatedWork W2086520244 @default.
- W2044464211 hasRelatedWork W2147583603 @default.
- W2044464211 hasRelatedWork W2934517965 @default.
- W2044464211 hasRelatedWork W3202511771 @default.
- W2044464211 hasRelatedWork W4220665777 @default.
- W2044464211 hasRelatedWork W88702495 @default.
- W2044464211 hasVolume "127" @default.
- W2044464211 isParatext "false" @default.
- W2044464211 isRetracted "false" @default.
- W2044464211 magId "2044464211" @default.
- W2044464211 workType "article" @default.