Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: Developmental consequences of germline Ras/MAPK activation on myogenesis

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 157, Issue 2, 2011, Pages 104-114

  Tidyman, William E ^a   Lee, Han S ^a   Rauen, Katherine A ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Division of Medical Genetics and Obstetrics   (United States)

Author keywords

BRAF; Cardio facio cutaneous syndrome; Costello syndrome; HRAS; MEK1; MEK2; Myopathy; Ras MAPK; RASopathy; Signal transduction pathway; Skeletal myogenesis; Type 2 predominance

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; MYOSIN HEAVY CHAIN; RAS PROTEIN;

ANIMAL CELL; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CELL DIFFERENTIATION; CELL SIZE; CHILD; CLINICAL ARTICLE; CONGENITAL MALFORMATION; CONTROLLED STUDY; COSTELLO SYNDROME; ENZYME ACTIVATION; FEMALE; GENE MUTATION; GROWTH INHIBITION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MOUSE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE DEVELOPMENT; MUSCLE HYPOTONIA; MYOBLAST; MYOPATHY; MYOTUBE; NONHUMAN; ONCOGENE; ONCOGENE B RAF; ONCOGENE H RAS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SKELETAL MYOPATHY; TISSUE STRUCTURE;

CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COSTELLO SYNDROME; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; GERM CELLS; HEART DEFECTS, CONGENITAL; HISTOLOGICAL TECHNIQUES; HUMANS; INFANT; MALE; MUSCLE DEVELOPMENT; MUSCLE, SKELETAL; MUTATION; PLASMIDS; PROTO-ONCOGENE PROTEINS P21(RAS); SIGNAL TRANSDUCTION;

EID: 79955029798     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30298     Document Type: Article

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