FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2318012822> ?p ?o ?g. }

• W2318012822 endingPage "2283" @default.
• W2318012822 startingPage "2277" @default.
• W2318012822 abstract "Androgens are essential for normal male sex differentiation and are responsible for the normal development of male secondary sexual characteristics at puberty. The physiological effects of androgens are mediated by the androgen receptor (AR). Mutations in the AR gene are the most common cause of androgen insensitivity syndrome. The present study undertook a genetic analysis of the AR gene in two unrelated families affected by complete androgen insensitivity syndrome (CAIS) in China. In family 1, a previously reported nonsense mutation (G-to-A; p.W751X) was identified in exon 5 of the AR gene. In addition, a novel missense mutation was detected in exon 6 of the AR gene from family 2; this mutation resulted in a predicted amino acid change from phenylalanine to serine at codon 804 (T-to-C; p.F804S) in the ligand-binding domain (LBD) of AR. Computer simulation of the structural changes generated by the p.F804S substitution revealed marked conformational alterations in the hydrophobic core responsible for the stability and function of the AR-LBD. In conclusion, the present study identified two mutations from two unrelated Chinese families affected by CAIS. The novel mutation (p.F804S) may provide insights into the molecular mechanism underlying CAIS. Furthermore, it expands on the number of mutational hot spots in the international AR mutation database, which may be useful in the future for prenatal diagnosis and genetic counseling." @default.
• W2318012822 created "2016-06-24" @default.
• W2318012822 creator A5010247995 @default.
• W2318012822 creator A5023050312 @default.
• W2318012822 creator A5024046591 @default.
• W2318012822 creator A5045172480 @default.
• W2318012822 creator A5068736113 @default.
• W2318012822 date "2016-04-06" @default.
• W2318012822 modified "2023-09-28" @default.
• W2318012822 title "Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome" @default.
• W2318012822 cites W1582162125 @default.
• W2318012822 cites W1598128285 @default.
• W2318012822 cites W1975555167 @default.
• W2318012822 cites W1988733339 @default.
• W2318012822 cites W1990489335 @default.
• W2318012822 cites W2001034975 @default.
• W2318012822 cites W2009464885 @default.
• W2318012822 cites W2018400995 @default.
• W2318012822 cites W2020265106 @default.
• W2318012822 cites W2022864357 @default.
• W2318012822 cites W2046607814 @default.
• W2318012822 cites W2050602600 @default.
• W2318012822 cites W2055655957 @default.
• W2318012822 cites W2084233574 @default.
• W2318012822 cites W2121751582 @default.
• W2318012822 cites W2129556290 @default.
• W2318012822 cites W2130442401 @default.
• W2318012822 cites W2133940765 @default.
• W2318012822 cites W2151922331 @default.
• W2318012822 cites W2160534562 @default.
• W2318012822 cites W2166870474 @default.
• W2318012822 cites W2167047231 @default.
• W2318012822 cites W2171154458 @default.
• W2318012822 cites W2325054347 @default.
• W2318012822 doi "https://doi.org/10.3892/etm.2016.3234" @default.
• W2318012822 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4887926" @default.
• W2318012822 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27284311" @default.
• W2318012822 hasPublicationYear "2016" @default.
• W2318012822 type Work @default.
• W2318012822 sameAs 2318012822 @default.
• W2318012822 citedByCount "5" @default.
• W2318012822 countsByYear W23180128222018 @default.
• W2318012822 countsByYear W23180128222019 @default.
• W2318012822 countsByYear W23180128222021 @default.
• W2318012822 countsByYear W23180128222022 @default.
• W2318012822 crossrefType "journal-article" @default.
• W2318012822 hasAuthorship W2318012822A5010247995 @default.
• W2318012822 hasAuthorship W2318012822A5023050312 @default.
• W2318012822 hasAuthorship W2318012822A5024046591 @default.
• W2318012822 hasAuthorship W2318012822A5045172480 @default.
• W2318012822 hasAuthorship W2318012822A5068736113 @default.
• W2318012822 hasBestOaLocation W23180128221 @default.
• W2318012822 hasConcept C104317684 @default.
• W2318012822 hasConcept C121608353 @default.
• W2318012822 hasConcept C134018914 @default.
• W2318012822 hasConcept C2777768709 @default.
• W2318012822 hasConcept C2777911890 @default.
• W2318012822 hasConcept C2778952551 @default.
• W2318012822 hasConcept C2780192828 @default.
• W2318012822 hasConcept C2994225774 @default.
• W2318012822 hasConcept C36823959 @default.
• W2318012822 hasConcept C501734568 @default.
• W2318012822 hasConcept C54355233 @default.
• W2318012822 hasConcept C61367390 @default.
• W2318012822 hasConcept C71315377 @default.
• W2318012822 hasConcept C75563809 @default.
• W2318012822 hasConcept C86803240 @default.
• W2318012822 hasConcept C96777560 @default.
• W2318012822 hasConceptScore W2318012822C104317684 @default.
• W2318012822 hasConceptScore W2318012822C121608353 @default.
• W2318012822 hasConceptScore W2318012822C134018914 @default.
• W2318012822 hasConceptScore W2318012822C2777768709 @default.
• W2318012822 hasConceptScore W2318012822C2777911890 @default.
• W2318012822 hasConceptScore W2318012822C2778952551 @default.
• W2318012822 hasConceptScore W2318012822C2780192828 @default.
• W2318012822 hasConceptScore W2318012822C2994225774 @default.
• W2318012822 hasConceptScore W2318012822C36823959 @default.
• W2318012822 hasConceptScore W2318012822C501734568 @default.
• W2318012822 hasConceptScore W2318012822C54355233 @default.
• W2318012822 hasConceptScore W2318012822C61367390 @default.
• W2318012822 hasConceptScore W2318012822C71315377 @default.
• W2318012822 hasConceptScore W2318012822C75563809 @default.
• W2318012822 hasConceptScore W2318012822C86803240 @default.
• W2318012822 hasConceptScore W2318012822C96777560 @default.
• W2318012822 hasIssue "6" @default.
• W2318012822 hasLocation W23180128221 @default.
• W2318012822 hasLocation W23180128222 @default.
• W2318012822 hasLocation W23180128223 @default.
• W2318012822 hasLocation W23180128224 @default.
• W2318012822 hasOpenAccess W2318012822 @default.
• W2318012822 hasPrimaryLocation W23180128221 @default.
• W2318012822 hasRelatedWork W1967434184 @default.
• W2318012822 hasRelatedWork W1973823948 @default.
• W2318012822 hasRelatedWork W1991531996 @default.
• W2318012822 hasRelatedWork W1992828890 @default.
• W2318012822 hasRelatedWork W2078562979 @default.
• W2318012822 hasRelatedWork W2151435663 @default.
• W2318012822 hasRelatedWork W2318012822 @default.

• next