Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068892891> ?p ?o ?g. }
Showing items 1 to 80 of
80
with 100 items per page.
- W2068892891 abstract "17 alpha-Hydroxylase deficiency is characterized by defects in either or both the 17 alpha-hydroxylase/17,20-lyase activities. We have, for the first time, elucidated the molecular basis of the deficiency in a male pseudohermaphrodite with ambiguous external genitalia resulting from partial combined deficiency of both activities. The patient is found to be a compound heterozygote, carrying two different inherited mutant alleles in the cytochrome P45017 alpha (CYP17) gene. One allele, from his mother, contains a stop codon (TGA) in place of arginine (CGA) at amino acid position 239 in exon 4. Because this occurs at the N-terminal side of the heme binding sequence, the putative resultant truncated protein is nonfunctional. The second allele, from his father, contains a missense mutation encoding the substitution of proline (CCA) by threonine (ACA) at position 342 in exon 6. Reconstruction of this mutation by site-directed mutagenesis into human P45017 alpha cDNA followed by expression in COS 1 cells leads to the same amount of immunodetectable P45017 alpha protein as found with expression of the normal P45017 alpha cDNA, although both the 17 alpha-hydroxylase and 17,20-lyase activities are found to be reduced to 40-45% of those of the normal enzyme. The presence of ambiguous external genitalia in this 46 XY individual indicates that greater than 20% of the total normal 17,20-lyase activity is required for complete virilization in the male." @default.
- W2068892891 created "2016-06-24" @default.
- W2068892891 creator A5014713070 @default.
- W2068892891 creator A5020123456 @default.
- W2068892891 creator A5051646679 @default.
- W2068892891 creator A5062961824 @default.
- W2068892891 creator A5073784171 @default.
- W2068892891 date "1992-03-01" @default.
- W2068892891 modified "2023-09-25" @default.
- W2068892891 title "Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency." @default.
- W2068892891 cites W1482432683 @default.
- W2068892891 cites W1534713573 @default.
- W2068892891 cites W1547482025 @default.
- W2068892891 cites W1556798853 @default.
- W2068892891 cites W1563095952 @default.
- W2068892891 cites W1971539282 @default.
- W2068892891 cites W2013899375 @default.
- W2068892891 cites W2019127995 @default.
- W2068892891 cites W2032118018 @default.
- W2068892891 cites W2057071869 @default.
- W2068892891 cites W2067494864 @default.
- W2068892891 cites W2068285267 @default.
- W2068892891 cites W2075200935 @default.
- W2068892891 cites W2077483112 @default.
- W2068892891 cites W2138270253 @default.
- W2068892891 cites W2144739237 @default.
- W2068892891 cites W2145261669 @default.
- W2068892891 cites W2268266121 @default.
- W2068892891 doi "https://doi.org/10.1210/jcem.74.3.1740503" @default.
- W2068892891 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1740503" @default.
- W2068892891 hasPublicationYear "1992" @default.
- W2068892891 type Work @default.
- W2068892891 sameAs 2068892891 @default.
- W2068892891 citedByCount "15" @default.
- W2068892891 countsByYear W20688928912013 @default.
- W2068892891 countsByYear W20688928912014 @default.
- W2068892891 countsByYear W20688928912015 @default.
- W2068892891 countsByYear W20688928912022 @default.
- W2068892891 crossrefType "journal-article" @default.
- W2068892891 hasAuthorship W2068892891A5014713070 @default.
- W2068892891 hasAuthorship W2068892891A5020123456 @default.
- W2068892891 hasAuthorship W2068892891A5051646679 @default.
- W2068892891 hasAuthorship W2068892891A5062961824 @default.
- W2068892891 hasAuthorship W2068892891A5073784171 @default.
- W2068892891 hasConcept C104317684 @default.
- W2068892891 hasConcept C12125453 @default.
- W2068892891 hasConcept C143065580 @default.
- W2068892891 hasConcept C153911025 @default.
- W2068892891 hasConcept C36823959 @default.
- W2068892891 hasConcept C501734568 @default.
- W2068892891 hasConcept C54355233 @default.
- W2068892891 hasConcept C75563809 @default.
- W2068892891 hasConcept C86803240 @default.
- W2068892891 hasConceptScore W2068892891C104317684 @default.
- W2068892891 hasConceptScore W2068892891C12125453 @default.
- W2068892891 hasConceptScore W2068892891C143065580 @default.
- W2068892891 hasConceptScore W2068892891C153911025 @default.
- W2068892891 hasConceptScore W2068892891C36823959 @default.
- W2068892891 hasConceptScore W2068892891C501734568 @default.
- W2068892891 hasConceptScore W2068892891C54355233 @default.
- W2068892891 hasConceptScore W2068892891C75563809 @default.
- W2068892891 hasConceptScore W2068892891C86803240 @default.
- W2068892891 hasLocation W20688928911 @default.
- W2068892891 hasLocation W20688928912 @default.
- W2068892891 hasOpenAccess W2068892891 @default.
- W2068892891 hasPrimaryLocation W20688928911 @default.
- W2068892891 hasRelatedWork W1973942562 @default.
- W2068892891 hasRelatedWork W2060169551 @default.
- W2068892891 hasRelatedWork W2088879124 @default.
- W2068892891 hasRelatedWork W2143652908 @default.
- W2068892891 hasRelatedWork W2329070144 @default.
- W2068892891 hasRelatedWork W2349400098 @default.
- W2068892891 hasRelatedWork W2362650105 @default.
- W2068892891 hasRelatedWork W2768077825 @default.
- W2068892891 hasRelatedWork W3189132110 @default.
- W2068892891 hasRelatedWork W4287398924 @default.
- W2068892891 isParatext "false" @default.
- W2068892891 isRetracted "false" @default.
- W2068892891 magId "2068892891" @default.
- W2068892891 workType "article" @default.