Matches in SemOpenAlex for { <https://semopenalex.org/work/W2887424427> ?p ?o ?g. }
- W2887424427 endingPage "139" @default.
- W2887424427 startingPage "132" @default.
- W2887424427 abstract "Split‐hand/foot malformation (SHFM) is caused by mutations in TP63 , DLX5 , DLX6 , FGF8 , FGFR1 , WNT10B , and BHLHA9 . The clinical features of SHFM caused by mutations of these genes are not distinguishable. This implies that in normal situations these SHFM‐associated genes share an underlying regulatory pathway that is involved in the development of the central parts of the hands and feet. The mutations in SHFM‐related genes lead to dysregulation of Fgf8 in the central portion of the apical ectodermal ridge (AER) and subsequently lead to misexpression of a number of downstream target genes, failure of stratification of the AER, and thus SHFM. Syndactyly of the remaining digits is most likely the effects of dysregulation of Fgf‐Bmp‐Msx signaling on apoptotic cell death. Loss of digit identity in SHFM is hypothesized to be the effects of misexpression of HOX genes, abnormal SHH gradient, or the loss of balance between GLI3A and GLI3R. Disruption of canonical and non‐canonical Wnt signaling is involved in the pathogenesis of SHFM. Whatever the causative genes of SHFM are, the mutations seem to lead to dysregulation of Fgf8 in AER cells of the central parts of the hands and feet and disruption of Wnt‐Bmp‐Fgf signaling pathways in AER." @default.
- W2887424427 created "2018-08-22" @default.
- W2887424427 creator A5015337477 @default.
- W2887424427 creator A5039328822 @default.
- W2887424427 date "2018-09-10" @default.
- W2887424427 modified "2023-10-14" @default.
- W2887424427 title "Genetic regulatory pathways of split‐hand/foot malformation" @default.
- W2887424427 cites W1482923899 @default.
- W2887424427 cites W1534987406 @default.
- W2887424427 cites W1583338361 @default.
- W2887424427 cites W1884185558 @default.
- W2887424427 cites W1968040820 @default.
- W2887424427 cites W1971242931 @default.
- W2887424427 cites W1980056733 @default.
- W2887424427 cites W1982017746 @default.
- W2887424427 cites W1988739816 @default.
- W2887424427 cites W1993306058 @default.
- W2887424427 cites W2002391499 @default.
- W2887424427 cites W2006658037 @default.
- W2887424427 cites W2010070885 @default.
- W2887424427 cites W2013297349 @default.
- W2887424427 cites W2013575881 @default.
- W2887424427 cites W2014191275 @default.
- W2887424427 cites W2014711070 @default.
- W2887424427 cites W2015098308 @default.
- W2887424427 cites W2035116886 @default.
- W2887424427 cites W2037357385 @default.
- W2887424427 cites W2055792519 @default.
- W2887424427 cites W2060805862 @default.
- W2887424427 cites W2071352756 @default.
- W2887424427 cites W2073053533 @default.
- W2887424427 cites W2073676252 @default.
- W2887424427 cites W2076747194 @default.
- W2887424427 cites W2079477526 @default.
- W2887424427 cites W2084430205 @default.
- W2887424427 cites W2087002642 @default.
- W2887424427 cites W2092098066 @default.
- W2887424427 cites W2098067206 @default.
- W2887424427 cites W2106730339 @default.
- W2887424427 cites W2108569257 @default.
- W2887424427 cites W2110426668 @default.
- W2887424427 cites W2140885873 @default.
- W2887424427 cites W2141140780 @default.
- W2887424427 cites W2144553391 @default.
- W2887424427 cites W2151076343 @default.
- W2887424427 cites W2151487287 @default.
- W2887424427 cites W2155270270 @default.
- W2887424427 cites W2155615244 @default.
- W2887424427 cites W2159263213 @default.
- W2887424427 cites W2161282017 @default.
- W2887424427 cites W2161770924 @default.
- W2887424427 cites W2173223884 @default.
- W2887424427 cites W2184484004 @default.
- W2887424427 cites W2212637430 @default.
- W2887424427 cites W2257942547 @default.
- W2887424427 cites W2284847304 @default.
- W2887424427 cites W2342167105 @default.
- W2887424427 cites W2565599957 @default.
- W2887424427 cites W2586728725 @default.
- W2887424427 cites W2603678602 @default.
- W2887424427 cites W2622721540 @default.
- W2887424427 cites W2761604897 @default.
- W2887424427 cites W2771163677 @default.
- W2887424427 cites W2901740258 @default.
- W2887424427 cites W2017974543 @default.
- W2887424427 doi "https://doi.org/10.1111/cge.13434" @default.
- W2887424427 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30101460" @default.
- W2887424427 hasPublicationYear "2018" @default.
- W2887424427 type Work @default.
- W2887424427 sameAs 2887424427 @default.
- W2887424427 citedByCount "26" @default.
- W2887424427 countsByYear W28874244272019 @default.
- W2887424427 countsByYear W28874244272020 @default.
- W2887424427 countsByYear W28874244272021 @default.
- W2887424427 countsByYear W28874244272022 @default.
- W2887424427 countsByYear W28874244272023 @default.
- W2887424427 crossrefType "journal-article" @default.
- W2887424427 hasAuthorship W2887424427A5015337477 @default.
- W2887424427 hasAuthorship W2887424427A5039328822 @default.
- W2887424427 hasBestOaLocation W28874244271 @default.
- W2887424427 hasConcept C104317684 @default.
- W2887424427 hasConcept C111039654 @default.
- W2887424427 hasConcept C137620995 @default.
- W2887424427 hasConcept C170493617 @default.
- W2887424427 hasConcept C2776094402 @default.
- W2887424427 hasConcept C54355233 @default.
- W2887424427 hasConcept C74373430 @default.
- W2887424427 hasConcept C86339819 @default.
- W2887424427 hasConcept C86370654 @default.
- W2887424427 hasConcept C86803240 @default.
- W2887424427 hasConcept C95444343 @default.
- W2887424427 hasConceptScore W2887424427C104317684 @default.
- W2887424427 hasConceptScore W2887424427C111039654 @default.
- W2887424427 hasConceptScore W2887424427C137620995 @default.
- W2887424427 hasConceptScore W2887424427C170493617 @default.
- W2887424427 hasConceptScore W2887424427C2776094402 @default.
- W2887424427 hasConceptScore W2887424427C54355233 @default.
- W2887424427 hasConceptScore W2887424427C74373430 @default.