Matches in SemOpenAlex for { <https://semopenalex.org/work/W2155834241> ?p ?o ?g. }
- W2155834241 endingPage "1510" @default.
- W2155834241 startingPage "1503" @default.
- W2155834241 abstract "Hirschsprung disease (HD) has been described in association with microcephaly, mental retardation and characteristic facial features, delineating a syndrome possibly caused by mutations localized at chromosome 2q22--q23. We have analyzed a de novo translocation breakpoint at 2q22 in one patient presenting with this syndrome, and identified a gene, SIP1, which is disrupted by this chromosomal rearrangement. SIP1 encodes Smad interacting protein 1, a new member of the delta EF1/Zfh-1 family of two-handed zinc finger/homeodomain transcription factors. We determined the genomic structure and expression of the human SIP1 gene. Further analysis of four independent patients showed that SIP1 is altered by heterozygous frameshift mutations causing early truncation of the protein. SIP1, among other functions, seems to play crucial roles in normal embryonic development of neural structures and neural crest. Its deficiency, in altering function of the TGF beta/BMP/Smad-mediated signalling cascade, is consistent with some of the dysmorphic features observed in this syndrome, in particular the enteric nervous system defect that underlies HD." @default.
- W2155834241 created "2016-06-24" @default.
- W2155834241 creator A5002706192 @default.
- W2155834241 creator A5003874353 @default.
- W2155834241 creator A5039343928 @default.
- W2155834241 creator A5059560690 @default.
- W2155834241 creator A5067210987 @default.
- W2155834241 creator A5068193802 @default.
- W2155834241 creator A5072937166 @default.
- W2155834241 creator A5084198801 @default.
- W2155834241 creator A5090700662 @default.
- W2155834241 date "2001-07-01" @default.
- W2155834241 modified "2023-10-16" @default.
- W2155834241 title "Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease" @default.
- W2155834241 cites W119128643 @default.
- W2155834241 cites W1207662610 @default.
- W2155834241 cites W1461548044 @default.
- W2155834241 cites W1663371441 @default.
- W2155834241 cites W1967803008 @default.
- W2155834241 cites W1970382469 @default.
- W2155834241 cites W1970804331 @default.
- W2155834241 cites W1999693507 @default.
- W2155834241 cites W2006067171 @default.
- W2155834241 cites W2018139276 @default.
- W2155834241 cites W2018214833 @default.
- W2155834241 cites W2024058819 @default.
- W2155834241 cites W2027723326 @default.
- W2155834241 cites W2029612353 @default.
- W2155834241 cites W2030586397 @default.
- W2155834241 cites W2030996806 @default.
- W2155834241 cites W2033887719 @default.
- W2155834241 cites W2043522420 @default.
- W2155834241 cites W2059309801 @default.
- W2155834241 cites W2074170762 @default.
- W2155834241 cites W2075077815 @default.
- W2155834241 cites W2086465672 @default.
- W2155834241 cites W2087447340 @default.
- W2155834241 cites W2095162144 @default.
- W2155834241 cites W2107034917 @default.
- W2155834241 cites W2132325834 @default.
- W2155834241 cites W2135507485 @default.
- W2155834241 cites W2137281565 @default.
- W2155834241 cites W2141809016 @default.
- W2155834241 cites W2147271987 @default.
- W2155834241 cites W2148267244 @default.
- W2155834241 cites W2397592313 @default.
- W2155834241 cites W2405178546 @default.
- W2155834241 cites W2414269530 @default.
- W2155834241 cites W2414967474 @default.
- W2155834241 cites W5958117 @default.
- W2155834241 doi "https://doi.org/10.1093/hmg/10.14.1503" @default.
- W2155834241 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11448942" @default.
- W2155834241 hasPublicationYear "2001" @default.
- W2155834241 type Work @default.
- W2155834241 sameAs 2155834241 @default.
- W2155834241 citedByCount "213" @default.
- W2155834241 countsByYear W21558342412012 @default.
- W2155834241 countsByYear W21558342412013 @default.
- W2155834241 countsByYear W21558342412014 @default.
- W2155834241 countsByYear W21558342412015 @default.
- W2155834241 countsByYear W21558342412016 @default.
- W2155834241 countsByYear W21558342412017 @default.
- W2155834241 countsByYear W21558342412018 @default.
- W2155834241 countsByYear W21558342412019 @default.
- W2155834241 countsByYear W21558342412020 @default.
- W2155834241 countsByYear W21558342412021 @default.
- W2155834241 countsByYear W21558342412022 @default.
- W2155834241 countsByYear W21558342412023 @default.
- W2155834241 crossrefType "journal-article" @default.
- W2155834241 hasAuthorship W2155834241A5002706192 @default.
- W2155834241 hasAuthorship W2155834241A5003874353 @default.
- W2155834241 hasAuthorship W2155834241A5039343928 @default.
- W2155834241 hasAuthorship W2155834241A5059560690 @default.
- W2155834241 hasAuthorship W2155834241A5067210987 @default.
- W2155834241 hasAuthorship W2155834241A5068193802 @default.
- W2155834241 hasAuthorship W2155834241A5072937166 @default.
- W2155834241 hasAuthorship W2155834241A5084198801 @default.
- W2155834241 hasAuthorship W2155834241A5090700662 @default.
- W2155834241 hasBestOaLocation W21558342411 @default.
- W2155834241 hasConcept C104317684 @default.
- W2155834241 hasConcept C105951970 @default.
- W2155834241 hasConcept C121587040 @default.
- W2155834241 hasConcept C126749454 @default.
- W2155834241 hasConcept C127716648 @default.
- W2155834241 hasConcept C24284526 @default.
- W2155834241 hasConcept C2781080636 @default.
- W2155834241 hasConcept C29906990 @default.
- W2155834241 hasConcept C501734568 @default.
- W2155834241 hasConcept C54355233 @default.
- W2155834241 hasConcept C86339819 @default.
- W2155834241 hasConcept C86803240 @default.
- W2155834241 hasConceptScore W2155834241C104317684 @default.
- W2155834241 hasConceptScore W2155834241C105951970 @default.
- W2155834241 hasConceptScore W2155834241C121587040 @default.
- W2155834241 hasConceptScore W2155834241C126749454 @default.
- W2155834241 hasConceptScore W2155834241C127716648 @default.
- W2155834241 hasConceptScore W2155834241C24284526 @default.
- W2155834241 hasConceptScore W2155834241C2781080636 @default.