Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling

American Journal of Human Genetics

Volumn 87, Issue 6, 2010, Pages 768-778

  Tian, Jing ^a   Ling, Ling ^a   Shboul, Mohammad ^a   Lee, Hane ^b   O'Connor, Brian ^b   Merriman, Barry ^b   Nelson, Stanley F ^b   Cool, Simon ^a   Ababneh, Osama H ^c   Al Hadidy, Azmy ^c   Masri, Amira ^c   Hamamy, Hanan ^d   Reversade, Bruno ^a,e  

^a INSTITUTE OF MEDICAL BIOLOGY   (Singapore)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF JORDAN   (Jordan)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^e NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

CHONDROITIN; CHONDROITIN SULFATE; CHONDROITIN SYNTHASE 1; NOTCH RECEPTOR; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BONE DEVELOPMENT; BRACHYDACTYLY; CHROMOSOME; CONTROLLED STUDY; ENZYME RELEASE; FIBROBLAST; GENE MUTATION; GLIOBLASTOMA; HUMAN; HUMAN CELL; NONHUMAN; OSTEOBLAST; PHALANX; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; CELLS, CULTURED; FEMALE; FOOT DEFORMITIES, CONGENITAL; FRAMESHIFT MUTATION; GENOTYPE; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; N-ACETYLGALACTOSAMINYLTRANSFERASES; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, NOTCH; RNA INTERFERENCE; SEQUENCE HOMOLOGY, AMINO ACID; SIGNAL TRANSDUCTION; SYNDROME;

DANIO RERIO;

EID: 78649800686     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.11.005     Document Type: Article

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