FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014787044> ?p ?o ?g. }

• W2014787044 endingPage "767" @default.
• W2014787044 startingPage "757" @default.
• W2014787044 abstract "Altered Bone Morphogenetic Protein (BMP) signaling leads to multiple developmental defects, including brachydactyly and deafness. Here we identify chondroitin synthase 1 (CHSY1) as a potential mediator of BMP effects. We show that loss of human CHSY1 function causes autosomal-recessive Temtamy preaxial brachydactyly syndrome (TPBS), mainly characterized by limb malformations, short stature, and hearing loss. After mapping the TPBS locus to chromosome 15q26-qterm, we identified causative mutations in five consanguineous TPBS families. In zebrafish, antisense-mediated chsy1 knockdown causes defects in multiple developmental processes, some of which are likely to also be causative in the etiology of TPBS. In the inner ears of zebrafish larvae, chsy1 is expressed similarly to the BMP inhibitor dan and in a complementary fashion to bmp2b. Furthermore, unrestricted Bmp2b signaling or loss of Dan activity leads to reduced chsy1 expression and, during epithelial morphogenesis, defects similar to those that occur upon Chsy1 inactivation, indicating that Bmp signaling affects inner-ear development by repressing chsy1. In addition, we obtained strikingly similar zebrafish phenotypes after chsy1 overexpression, which might explain why, in humans, brachydactyly can be caused by mutations leading either to loss or to gain of BMP signaling. Altered Bone Morphogenetic Protein (BMP) signaling leads to multiple developmental defects, including brachydactyly and deafness. Here we identify chondroitin synthase 1 (CHSY1) as a potential mediator of BMP effects. We show that loss of human CHSY1 function causes autosomal-recessive Temtamy preaxial brachydactyly syndrome (TPBS), mainly characterized by limb malformations, short stature, and hearing loss. After mapping the TPBS locus to chromosome 15q26-qterm, we identified causative mutations in five consanguineous TPBS families. In zebrafish, antisense-mediated chsy1 knockdown causes defects in multiple developmental processes, some of which are likely to also be causative in the etiology of TPBS. In the inner ears of zebrafish larvae, chsy1 is expressed similarly to the BMP inhibitor dan and in a complementary fashion to bmp2b. Furthermore, unrestricted Bmp2b signaling or loss of Dan activity leads to reduced chsy1 expression and, during epithelial morphogenesis, defects similar to those that occur upon Chsy1 inactivation, indicating that Bmp signaling affects inner-ear development by repressing chsy1. In addition, we obtained strikingly similar zebrafish phenotypes after chsy1 overexpression, which might explain why, in humans, brachydactyly can be caused by mutations leading either to loss or to gain of BMP signaling." @default.
• W2014787044 created "2016-06-24" @default.
• W2014787044 creator A5005574733 @default.
• W2014787044 creator A5006606740 @default.
• W2014787044 creator A5017084241 @default.
• W2014787044 creator A5017750258 @default.
• W2014787044 creator A5028380042 @default.
• W2014787044 creator A5032020402 @default.
• W2014787044 creator A5034047313 @default.
• W2014787044 creator A5035358062 @default.
• W2014787044 creator A5047140394 @default.
• W2014787044 creator A5048092688 @default.
• W2014787044 creator A5055109901 @default.
• W2014787044 creator A5059195919 @default.
• W2014787044 creator A5059948984 @default.
• W2014787044 creator A5063138198 @default.
• W2014787044 creator A5078248666 @default.
• W2014787044 creator A5081392117 @default.
• W2014787044 creator A5082639556 @default.
• W2014787044 creator A5082973474 @default.
• W2014787044 creator A5084486104 @default.
• W2014787044 creator A5084973389 @default.
• W2014787044 creator A5060678288 @default.
• W2014787044 date "2010-12-01" @default.
• W2014787044 modified "2023-10-15" @default.
• W2014787044 title "Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling" @default.
• W2014787044 cites W1502051084 @default.
• W2014787044 cites W1532880128 @default.
• W2014787044 cites W1608507417 @default.
• W2014787044 cites W1871515736 @default.
• W2014787044 cites W1927171786 @default.
• W2014787044 cites W1968609694 @default.
• W2014787044 cites W1972429412 @default.
• W2014787044 cites W1984760920 @default.
• W2014787044 cites W1990484548 @default.
• W2014787044 cites W1995912317 @default.
• W2014787044 cites W1998105965 @default.
• W2014787044 cites W1998756807 @default.
• W2014787044 cites W1999269655 @default.
• W2014787044 cites W2000460436 @default.
• W2014787044 cites W2003744362 @default.
• W2014787044 cites W2004693752 @default.
• W2014787044 cites W2009189206 @default.
• W2014787044 cites W2010206624 @default.
• W2014787044 cites W2018648981 @default.
• W2014787044 cites W2023089317 @default.
• W2014787044 cites W2029032529 @default.
• W2014787044 cites W2029803663 @default.
• W2014787044 cites W2034296146 @default.
• W2014787044 cites W2047942377 @default.
• W2014787044 cites W2048531257 @default.
• W2014787044 cites W2057454440 @default.
• W2014787044 cites W2062091824 @default.
• W2014787044 cites W2065752935 @default.
• W2014787044 cites W2071648361 @default.
• W2014787044 cites W2072038834 @default.
• W2014787044 cites W2078241425 @default.
• W2014787044 cites W2093879241 @default.
• W2014787044 cites W2096251733 @default.
• W2014787044 cites W2105306382 @default.
• W2014787044 cites W2106303663 @default.
• W2014787044 cites W2127334295 @default.
• W2014787044 cites W2128300793 @default.
• W2014787044 cites W2136526854 @default.
• W2014787044 cites W2145652037 @default.
• W2014787044 cites W2147248889 @default.
• W2014787044 doi "https://doi.org/10.1016/j.ajhg.2010.10.003" @default.
• W2014787044 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2997369" @default.
• W2014787044 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21129728" @default.
• W2014787044 hasPublicationYear "2010" @default.
• W2014787044 type Work @default.
• W2014787044 sameAs 2014787044 @default.
• W2014787044 citedByCount "76" @default.
• W2014787044 countsByYear W20147870442012 @default.
• W2014787044 countsByYear W20147870442013 @default.
• W2014787044 countsByYear W20147870442014 @default.
• W2014787044 countsByYear W20147870442015 @default.
• W2014787044 countsByYear W20147870442016 @default.
• W2014787044 countsByYear W20147870442017 @default.
• W2014787044 countsByYear W20147870442018 @default.
• W2014787044 countsByYear W20147870442019 @default.
• W2014787044 countsByYear W20147870442020 @default.
• W2014787044 countsByYear W20147870442021 @default.
• W2014787044 countsByYear W20147870442022 @default.
• W2014787044 countsByYear W20147870442023 @default.
• W2014787044 crossrefType "journal-article" @default.
• W2014787044 hasAuthorship W2014787044A5005574733 @default.
• W2014787044 hasAuthorship W2014787044A5006606740 @default.
• W2014787044 hasAuthorship W2014787044A5017084241 @default.
• W2014787044 hasAuthorship W2014787044A5017750258 @default.
• W2014787044 hasAuthorship W2014787044A5028380042 @default.
• W2014787044 hasAuthorship W2014787044A5032020402 @default.
• W2014787044 hasAuthorship W2014787044A5034047313 @default.
• W2014787044 hasAuthorship W2014787044A5035358062 @default.
• W2014787044 hasAuthorship W2014787044A5047140394 @default.
• W2014787044 hasAuthorship W2014787044A5048092688 @default.
• W2014787044 hasAuthorship W2014787044A5055109901 @default.
• W2014787044 hasAuthorship W2014787044A5059195919 @default.

• next