A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal

Journal of Bone and Mineral Research

Volumn 31, Issue 4, 2016, Pages 882-889

  Wang, Jian ^a   Yu, Tingting ^a   Wang, Zhigang ^a   Ohte, Satoshi ^b   Yao, Ru En ^a   Zheng, Zhaojing ^a   Geng, Juan ^a   Cai, Haiqing ^a   Ge, Yihua ^a   Li, Yuchan ^a   Xu, Yunlan ^a   Zhang, Qinghua ^a   Gusella, James F ^c   Fu, Qihua ^a   Pregizer, Steven ^b   Rosen, Vicki ^b   Shen, Yiping ^a,d,e  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b HARVARD SCHOOL OF DENTAL MEDICINE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e Claritas Genomics   (United States)

Author keywords

BMP TGF Csignaling; GDF6; Multiple Synostoses Syndrome; NOG

Indexed keywords

ALKALINE PHOSPHATASE; BONE MORPHOGENETIC PROTEIN; GROWTH DIFFERENTIATION FACTOR 6; NOGGIN; CARRIER PROTEIN; GDF6 PROTEIN, HUMAN; NOGGIN PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONDUCTION DEAFNESS; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; FEMALE; FOOT MALFORMATION; FUNCTIONAL DISEASE; GAIN OF FUNCTION MUTATION; GENE MUTATION; HAND MALFORMATION; HUMAN; HUMAN CELL; MALE; MOUSE; MULTIPLE SYNOSTOSIS SYNDROME; NONHUMAN; PEDIGREE; PHENOTYPE; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; ABNORMALITIES; AMINO ACID SUBSTITUTION; ANIMAL; CARPAL BONE; CELL LINE; GENETICS; METABOLISM; MISSENSE MUTATION; STAPES; SYNOSTOSIS; TARSAL BONE;

AMINO ACID SUBSTITUTION; ANIMALS; BONE MORPHOGENETIC PROTEINS; CARPAL BONES; CARRIER PROTEINS; CELL LINE; FOOT DEFORMITIES, CONGENITAL; GROWTH DIFFERENTIATION FACTOR 6; HAND DEFORMITIES, CONGENITAL; HUMANS; MICE; MUTATION, MISSENSE; SIGNAL TRANSDUCTION; STAPES; SYNOSTOSIS; TARSAL BONES;

EID: 84952684891     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2761     Document Type: Article

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