Matches in SemOpenAlex for { <https://semopenalex.org/work/W2969790860> ?p ?o ?g. }
- W2969790860 endingPage "3474" @default.
- W2969790860 startingPage "3466" @default.
- W2969790860 abstract "Abstract Recurrent pregnancy loss (RPL) is defined as two or more consecutive miscarriages and affects an estimated 1.5% of couples trying to conceive. RPL has been attributed to genetic, endocrine, immune and thrombophilic disorders, but many cases remain unexplained. We investigated a Bangladeshi family where the proband experienced 29 consecutive pregnancy losses with no successful pregnancies from three different marriages. Whole exome sequencing identified rare genetic variants in several candidate genes. These were further investigated in Asian and white European RPL cohorts, and in Bangladeshi controls. FKBP4, encoding the immunophilin FK506-binding protein 4, was identified as a plausible candidate, with three further novel variants identified in Asian patients. None were found in European patients or controls. In silico structural studies predicted damaging effects of the variants in the structure-function properties of the FKBP52 protein. These were located within domains reported to be involved in Hsp90 binding and peptidyl-prolyl cis-trans isomerase (PPIase) activity. Profound effects on PPIase activity were demonstrated in transiently transfected HEK293 cells comparing wild-type and mutant FKBP4 constructs. Mice lacking FKBP4 have been previously reported as infertile through implantation failure. This study therefore strongly implicates FKBP4 as associated with fetal losses in humans, particularly in the Asian population." @default.
- W2969790860 created "2019-08-29" @default.
- W2969790860 creator A5001868446 @default.
- W2969790860 creator A5006409961 @default.
- W2969790860 creator A5025298939 @default.
- W2969790860 creator A5028228166 @default.
- W2969790860 creator A5041110787 @default.
- W2969790860 creator A5052688580 @default.
- W2969790860 creator A5055754672 @default.
- W2969790860 creator A5064079699 @default.
- W2969790860 creator A5067226213 @default.
- W2969790860 creator A5086160124 @default.
- W2969790860 date "2019-08-22" @default.
- W2969790860 modified "2023-09-28" @default.
- W2969790860 title "Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans" @default.
- W2969790860 cites W1213045642 @default.
- W2969790860 cites W1567400069 @default.
- W2969790860 cites W1965958910 @default.
- W2969790860 cites W1967265946 @default.
- W2969790860 cites W1970413157 @default.
- W2969790860 cites W1973582073 @default.
- W2969790860 cites W1975244074 @default.
- W2969790860 cites W1990710362 @default.
- W2969790860 cites W1991069043 @default.
- W2969790860 cites W1996596163 @default.
- W2969790860 cites W2001036949 @default.
- W2969790860 cites W2002476837 @default.
- W2969790860 cites W2010240180 @default.
- W2969790860 cites W2011807431 @default.
- W2969790860 cites W2018347968 @default.
- W2969790860 cites W2019014038 @default.
- W2969790860 cites W2021848169 @default.
- W2969790860 cites W2024842574 @default.
- W2969790860 cites W2034701183 @default.
- W2969790860 cites W2036822027 @default.
- W2969790860 cites W2041561339 @default.
- W2969790860 cites W2059145105 @default.
- W2969790860 cites W2065295359 @default.
- W2969790860 cites W2071307227 @default.
- W2969790860 cites W2072109709 @default.
- W2969790860 cites W2072150968 @default.
- W2969790860 cites W2074250505 @default.
- W2969790860 cites W2075431153 @default.
- W2969790860 cites W2075705212 @default.
- W2969790860 cites W2080039356 @default.
- W2969790860 cites W2089335658 @default.
- W2969790860 cites W2092106545 @default.
- W2969790860 cites W2101831564 @default.
- W2969790860 cites W2102874036 @default.
- W2969790860 cites W2137015675 @default.
- W2969790860 cites W2164004777 @default.
- W2969790860 cites W2164096066 @default.
- W2969790860 cites W2417483443 @default.
- W2969790860 cites W2744569005 @default.
- W2969790860 cites W2796224907 @default.
- W2969790860 doi "https://doi.org/10.1093/hmg/ddz203" @default.
- W2969790860 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31504499" @default.
- W2969790860 hasPublicationYear "2019" @default.
- W2969790860 type Work @default.
- W2969790860 sameAs 2969790860 @default.
- W2969790860 citedByCount "13" @default.
- W2969790860 countsByYear W29697908602020 @default.
- W2969790860 countsByYear W29697908602021 @default.
- W2969790860 countsByYear W29697908602022 @default.
- W2969790860 countsByYear W29697908602023 @default.
- W2969790860 crossrefType "journal-article" @default.
- W2969790860 hasAuthorship W2969790860A5001868446 @default.
- W2969790860 hasAuthorship W2969790860A5006409961 @default.
- W2969790860 hasAuthorship W2969790860A5025298939 @default.
- W2969790860 hasAuthorship W2969790860A5028228166 @default.
- W2969790860 hasAuthorship W2969790860A5041110787 @default.
- W2969790860 hasAuthorship W2969790860A5052688580 @default.
- W2969790860 hasAuthorship W2969790860A5055754672 @default.
- W2969790860 hasAuthorship W2969790860A5064079699 @default.
- W2969790860 hasAuthorship W2969790860A5067226213 @default.
- W2969790860 hasAuthorship W2969790860A5086160124 @default.
- W2969790860 hasBestOaLocation W29697908602 @default.
- W2969790860 hasConcept C104317684 @default.
- W2969790860 hasConcept C10590036 @default.
- W2969790860 hasConcept C16671776 @default.
- W2969790860 hasConcept C188997412 @default.
- W2969790860 hasConcept C2775905019 @default.
- W2969790860 hasConcept C2908647359 @default.
- W2969790860 hasConcept C501734568 @default.
- W2969790860 hasConcept C54355233 @default.
- W2969790860 hasConcept C71924100 @default.
- W2969790860 hasConcept C86803240 @default.
- W2969790860 hasConcept C99454951 @default.
- W2969790860 hasConceptScore W2969790860C104317684 @default.
- W2969790860 hasConceptScore W2969790860C10590036 @default.
- W2969790860 hasConceptScore W2969790860C16671776 @default.
- W2969790860 hasConceptScore W2969790860C188997412 @default.
- W2969790860 hasConceptScore W2969790860C2775905019 @default.
- W2969790860 hasConceptScore W2969790860C2908647359 @default.
- W2969790860 hasConceptScore W2969790860C501734568 @default.
- W2969790860 hasConceptScore W2969790860C54355233 @default.
- W2969790860 hasConceptScore W2969790860C71924100 @default.
- W2969790860 hasConceptScore W2969790860C86803240 @default.