Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014504966> ?p ?o ?g. }
- W2014504966 endingPage "e1004333" @default.
- W2014504966 startingPage "e1004333" @default.
- W2014504966 abstract "Inherited hypertrichoses are rare syndromes characterized by excessive hair growth that does not result from androgen stimulation, and are often associated with additional congenital abnormalities. In this study, we investigated the genetic defect in a case of autosomal recessive congenital generalized hypertrichosis terminalis (CGHT) (OMIM135400) using whole-exome sequencing. We identified a single base pair substitution in the 5' donor splice site of intron 32 in the ABC lipid transporter gene ABCA5 that leads to aberrant splicing of the transcript and a decrease in protein levels throughout patient hair follicles. The homozygous recessive disruption of ABCA5 leads to reduced lysosome function, which results in an accumulation of autophagosomes, autophagosomal cargos as well as increased endolysosomal cholesterol in CGHT keratinocytes. In an unrelated sporadic case of CGHT, we identified a 1.3 Mb cryptic deletion of chr17q24.2-q24.3 encompassing ABCA5 and found that ABCA5 levels are dramatically reduced throughout patient hair follicles. Collectively, our findings support ABCA5 as a gene underlying the CGHT phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth." @default.
- W2014504966 created "2016-06-24" @default.
- W2014504966 creator A5003175737 @default.
- W2014504966 creator A5004804093 @default.
- W2014504966 creator A5009637115 @default.
- W2014504966 creator A5013222619 @default.
- W2014504966 creator A5015212385 @default.
- W2014504966 creator A5015395866 @default.
- W2014504966 creator A5023341317 @default.
- W2014504966 creator A5025044768 @default.
- W2014504966 creator A5042912722 @default.
- W2014504966 creator A5043710192 @default.
- W2014504966 creator A5044490713 @default.
- W2014504966 creator A5052660761 @default.
- W2014504966 creator A5054793364 @default.
- W2014504966 creator A5055835455 @default.
- W2014504966 creator A5057976002 @default.
- W2014504966 creator A5073890226 @default.
- W2014504966 creator A5074871232 @default.
- W2014504966 creator A5079674464 @default.
- W2014504966 creator A5084965938 @default.
- W2014504966 date "2014-05-15" @default.
- W2014504966 modified "2023-10-14" @default.
- W2014504966 title "Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth" @default.
- W2014504966 cites W1486904951 @default.
- W2014504966 cites W1894823477 @default.
- W2014504966 cites W1963865721 @default.
- W2014504966 cites W1967949450 @default.
- W2014504966 cites W1971243902 @default.
- W2014504966 cites W1973552906 @default.
- W2014504966 cites W1979552352 @default.
- W2014504966 cites W1982712478 @default.
- W2014504966 cites W1983933050 @default.
- W2014504966 cites W1989417694 @default.
- W2014504966 cites W1992318037 @default.
- W2014504966 cites W1998479150 @default.
- W2014504966 cites W2005887327 @default.
- W2014504966 cites W2006930832 @default.
- W2014504966 cites W2009111093 @default.
- W2014504966 cites W2009506181 @default.
- W2014504966 cites W2012181254 @default.
- W2014504966 cites W2012418018 @default.
- W2014504966 cites W2020156096 @default.
- W2014504966 cites W2035881737 @default.
- W2014504966 cites W2036388720 @default.
- W2014504966 cites W2045291494 @default.
- W2014504966 cites W2045516425 @default.
- W2014504966 cites W2050153206 @default.
- W2014504966 cites W2052818515 @default.
- W2014504966 cites W2053844922 @default.
- W2014504966 cites W2054519093 @default.
- W2014504966 cites W2056772956 @default.
- W2014504966 cites W2058142601 @default.
- W2014504966 cites W2058687436 @default.
- W2014504966 cites W2062658511 @default.
- W2014504966 cites W2062766267 @default.
- W2014504966 cites W2064645605 @default.
- W2014504966 cites W2066045191 @default.
- W2014504966 cites W2066466374 @default.
- W2014504966 cites W2068262899 @default.
- W2014504966 cites W2069008021 @default.
- W2014504966 cites W2086527897 @default.
- W2014504966 cites W2087834037 @default.
- W2014504966 cites W2088987694 @default.
- W2014504966 cites W2107277218 @default.
- W2014504966 cites W2112239959 @default.
- W2014504966 cites W2123679185 @default.
- W2014504966 cites W2129682060 @default.
- W2014504966 cites W2129684968 @default.
- W2014504966 cites W2131893365 @default.
- W2014504966 cites W2145439554 @default.
- W2014504966 cites W2147781659 @default.
- W2014504966 cites W2148046528 @default.
- W2014504966 cites W2148121263 @default.
- W2014504966 cites W2155290753 @default.
- W2014504966 cites W2158531928 @default.
- W2014504966 cites W2160343740 @default.
- W2014504966 cites W4211007637 @default.
- W2014504966 cites W4247292500 @default.
- W2014504966 doi "https://doi.org/10.1371/journal.pgen.1004333" @default.
- W2014504966 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4022463" @default.
- W2014504966 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24831815" @default.
- W2014504966 hasPublicationYear "2014" @default.
- W2014504966 type Work @default.
- W2014504966 sameAs 2014504966 @default.
- W2014504966 citedByCount "40" @default.
- W2014504966 countsByYear W20145049662014 @default.
- W2014504966 countsByYear W20145049662015 @default.
- W2014504966 countsByYear W20145049662016 @default.
- W2014504966 countsByYear W20145049662017 @default.
- W2014504966 countsByYear W20145049662018 @default.
- W2014504966 countsByYear W20145049662019 @default.
- W2014504966 countsByYear W20145049662020 @default.
- W2014504966 countsByYear W20145049662021 @default.
- W2014504966 countsByYear W20145049662022 @default.
- W2014504966 countsByYear W20145049662023 @default.
- W2014504966 crossrefType "journal-article" @default.
- W2014504966 hasAuthorship W2014504966A5003175737 @default.