Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022902077> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W2022902077 endingPage "231" @default.
- W2022902077 startingPage "225" @default.
- W2022902077 abstract "Purpose: To identify the mutation in the RB1 gene in a Syrian family showing incomplete penetrance of retinoblastoma (RB). Methods: Genomic DNA was used as a template for the PCR reaction to amplify all exons as well as the promoter region of RB1 gene. These PCR products were screened by conformational sensitive gel electrophoresis and the 331-bp product containing exon 21 showing anomalous migration was sequenced directly to identify the mutation. Results: We identified the missense point mutation in exon 21 of the RB1 gene converting a Cys?Arg (codon 712) in one family with a low penetrant phenotype. The proband was unilaterally affected, whereas the paternal uncle was bilaterally affected and the mutation carrier father was unaffected. The T?C substitution abolished a cleavage site for the Nde I restriction enzyme, enabling rapid detection of the mutant allele. Conclusion: Phenotypically, this family is different from the previously described low penetrant phenotype pedigree with the same mutation whose affected members all had unilateral tumors. These results suggest that codon 712 may represent a mutational `hot spot' for the low penetrant phenotypes and that the mutation codes for retinoblastoma protein with an apparently residual tumor-suppressive function give rise to low penetrance. These results also raise the interesting question: what other factors influence the phenotype of mutation carriers in addition to the predisposing missense mutation." @default.
- W2022902077 created "2016-06-24" @default.
- W2022902077 creator A5062088249 @default.
- W2022902077 creator A5066304115 @default.
- W2022902077 creator A5071636507 @default.
- W2022902077 creator A5079411537 @default.
- W2022902077 creator A5084371485 @default.
- W2022902077 date "1999-01-01" @default.
- W2022902077 modified "2023-10-16" @default.
- W2022902077 title "A possible hot spot in exon 21 of the retinoblastoma gene predisposing to a low penetrant retinoblastoma phenotype?" @default.
- W2022902077 cites W1971485090 @default.
- W2022902077 cites W1984639736 @default.
- W2022902077 cites W1998830897 @default.
- W2022902077 cites W2015818505 @default.
- W2022902077 cites W2017322029 @default.
- W2022902077 cites W2030820499 @default.
- W2022902077 cites W2035107735 @default.
- W2022902077 cites W2035962290 @default.
- W2022902077 cites W2037268137 @default.
- W2022902077 cites W2046406265 @default.
- W2022902077 cites W2071647588 @default.
- W2022902077 cites W2073579811 @default.
- W2022902077 cites W2088832238 @default.
- W2022902077 cites W2100159037 @default.
- W2022902077 cites W2110310702 @default.
- W2022902077 cites W2119521263 @default.
- W2022902077 cites W2129742395 @default.
- W2022902077 cites W2131863464 @default.
- W2022902077 cites W2133749776 @default.
- W2022902077 cites W2157890401 @default.
- W2022902077 cites W2167071834 @default.
- W2022902077 doi "https://doi.org/10.1076/opge.20.4.225.2269" @default.
- W2022902077 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10617920" @default.
- W2022902077 hasPublicationYear "1999" @default.
- W2022902077 type Work @default.
- W2022902077 sameAs 2022902077 @default.
- W2022902077 citedByCount "13" @default.
- W2022902077 countsByYear W20229020772013 @default.
- W2022902077 countsByYear W20229020772016 @default.
- W2022902077 countsByYear W20229020772017 @default.
- W2022902077 countsByYear W20229020772019 @default.
- W2022902077 countsByYear W20229020772020 @default.
- W2022902077 countsByYear W20229020772022 @default.
- W2022902077 crossrefType "journal-article" @default.
- W2022902077 hasAuthorship W2022902077A5062088249 @default.
- W2022902077 hasAuthorship W2022902077A5066304115 @default.
- W2022902077 hasAuthorship W2022902077A5071636507 @default.
- W2022902077 hasAuthorship W2022902077A5079411537 @default.
- W2022902077 hasAuthorship W2022902077A5084371485 @default.
- W2022902077 hasConcept C104317684 @default.
- W2022902077 hasConcept C127716648 @default.
- W2022902077 hasConcept C143065580 @default.
- W2022902077 hasConcept C153911025 @default.
- W2022902077 hasConcept C176944494 @default.
- W2022902077 hasConcept C180754005 @default.
- W2022902077 hasConcept C188997412 @default.
- W2022902077 hasConcept C200544954 @default.
- W2022902077 hasConcept C2776577112 @default.
- W2022902077 hasConcept C36823959 @default.
- W2022902077 hasConcept C501734568 @default.
- W2022902077 hasConcept C54355233 @default.
- W2022902077 hasConcept C75563809 @default.
- W2022902077 hasConcept C86803240 @default.
- W2022902077 hasConceptScore W2022902077C104317684 @default.
- W2022902077 hasConceptScore W2022902077C127716648 @default.
- W2022902077 hasConceptScore W2022902077C143065580 @default.
- W2022902077 hasConceptScore W2022902077C153911025 @default.
- W2022902077 hasConceptScore W2022902077C176944494 @default.
- W2022902077 hasConceptScore W2022902077C180754005 @default.
- W2022902077 hasConceptScore W2022902077C188997412 @default.
- W2022902077 hasConceptScore W2022902077C200544954 @default.
- W2022902077 hasConceptScore W2022902077C2776577112 @default.
- W2022902077 hasConceptScore W2022902077C36823959 @default.
- W2022902077 hasConceptScore W2022902077C501734568 @default.
- W2022902077 hasConceptScore W2022902077C54355233 @default.
- W2022902077 hasConceptScore W2022902077C75563809 @default.
- W2022902077 hasConceptScore W2022902077C86803240 @default.
- W2022902077 hasIssue "4" @default.
- W2022902077 hasLocation W20229020771 @default.
- W2022902077 hasLocation W20229020772 @default.
- W2022902077 hasOpenAccess W2022902077 @default.
- W2022902077 hasPrimaryLocation W20229020771 @default.
- W2022902077 hasRelatedWork W1985528716 @default.
- W2022902077 hasRelatedWork W2116572532 @default.
- W2022902077 hasRelatedWork W2198170080 @default.
- W2022902077 hasRelatedWork W2349400098 @default.
- W2022902077 hasRelatedWork W2362650105 @default.
- W2022902077 hasRelatedWork W2365295063 @default.
- W2022902077 hasRelatedWork W2409341427 @default.
- W2022902077 hasRelatedWork W2419467758 @default.
- W2022902077 hasRelatedWork W3032164203 @default.
- W2022902077 hasRelatedWork W3037357169 @default.
- W2022902077 hasVolume "20" @default.
- W2022902077 isParatext "false" @default.
- W2022902077 isRetracted "false" @default.
- W2022902077 magId "2022902077" @default.
- W2022902077 workType "article" @default.