Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome

European Journal of Medical Genetics

Volumn 57, Issue 2-3, 2014, Pages 95-102

  Morissette, Rachel ^a,b   Merke, Deborah P ^b,c   McDonnell, Nazli B ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

CAH; Cardiac abnormalities; Cleft palate; Tenascin X deficiency; TGF pathway

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; COLLAGENASE 3; TENASCIN; TENASCIN X; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA1; TRANSFORMING GROWTH FACTOR BETA2; TRANSFORMING GROWTH FACTOR BETA3; UNCLASSIFIED DRUG; BONE MORPHOGENETIC PROTEIN;

ARTICLE; CLINICAL ARTICLE; CLINICAL TRIAL; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CYTOKINE RELEASE; FEMALE; FIBROBLAST; HEART DEVELOPMENT; HEART FUNCTION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SECONDARY PALATE; SIGNAL TRANSDUCTION; SKIN BIOPSY; TENASCIN X DEFICIENCY; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; BIOSYNTHESIS; BLOOD; CHILD; DEFICIENCY; EHLERS-DANLOS SYNDROME; GENE EXPRESSION REGULATION; GENETICS; IMMUNOHISTOCHEMISTRY; METABOLISM; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; BONE MORPHOGENETIC PROTEINS; CHILD; CHILD, PRESCHOOL; EHLERS-DANLOS SYNDROME; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MATRIX METALLOPROTEINASE 13; SIGNAL TRANSDUCTION; TENASCIN; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA2; TRANSFORMING GROWTH FACTOR BETA3; YOUNG ADULT;

EID: 84897115581     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.12.004     Document Type: Article

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