Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

Human Mutation

Volumn 32, Issue 2, 2011, Pages 231-239

  Denais, Celine ^a   Dent, Carolyn L ^a   Southgate, Laura ^a   Hoyle, Jacqueline ^a   Dafou, Dimitra ^a   Trembath, Richard C ^a   Machado, Rajiv D ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Chondrogenesis; Dymeclin; Golgi; Secretion; Skeletal dysplasia

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; DYMECLIN; MEMBRANE PROTEIN; PROTEIN GOLM1; PROTEIN PPIB; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DEVELOPMENT; CARTILAGE CELL; CYTOPLASM; DYGGVE MELCHIOR CLAUSEN SYNDROME; EMBRYO; EMBRYO DEVELOPMENT; EXTRACELLULAR MATRIX; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GOLGI COMPLEX; HUMAN; HUMAN CELL; MALE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; PROTEIN SECRETION; SECRETORY PATHWAY; SIGNAL TRANSDUCTION; ZEBRA FISH;

ANIMALS; BONE DEVELOPMENT; CELLS, CULTURED; CHONDROGENESIS; CYTOPLASM; DWARFISM; EXTRACELLULAR MATRIX; FIBROBLASTS; GENETIC DISEASES, X-LINKED; GOLGI APPARATUS; HELA CELLS; HUMANS; MENTAL RETARDATION; MUTATION; OSTEOCHONDRODYSPLASIAS; PROTEINS; SKIN; TWO-HYBRID SYSTEM TECHNIQUES; ZEBRAFISH;

DANIO RERIO;

EID: 79551516571     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21413     Document Type: Article

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