OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

Human Mutation

Volumn 31, Issue 1, 2010, Pages 20-26

  Huber, Celine ^a   Fradin, Mélanie ^a   Edouard, Thomas ^b   Le Merrer, Martine ^a   Alanay, Yasemin ^c   Da Silva, Daniela Bezerra ^d   David, Albert ^e   Hamamy, Hanan ^f   Van Hest, Liselotte ^g   Lund, Allan M ^h   Michaud, Jacques ^d   Oley, Christine ⁱ   Patel, Chirag ⁱ   Rajab, Anna ^j   Skidmore, David L ^k   Stewart, Helen ^l   Tauber, Maité ^b   Munnich, Arnold ^a   Cormier Daire, Valerie ^a  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b CHU PURPAN   (France)

^c Ihsan Dogramaci Children's Hospital   (Turkey)

^d UNIVERSITY OF MONTREAL   (Canada)

^e Nantes Hospital   (France)

^f National Center for Diabetes Endocrinology and Genetics Jordan   (Jordan)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h Mental Health Services CPH   (Denmark)

ⁱ BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^j ROYAL HOSPITAL   (Oman)

^k DALHOUSIE UNIVERSITY   (Canada)

^l CHURCHILL HOSPITAL   (United Kingdom)

more..

Author keywords

3 M syndrome; Growth retardation; IGFBP2; IGFBP5; OBSL1

Indexed keywords

CONNECTIVE TISSUE GROWTH FACTOR; MESSENGER RNA; OBSCURIN; OBSCURIN LIKE 1 PROTEIN; SOMATOMEDIN BINDING PROTEIN 2; SOMATOMEDIN BINDING PROTEIN 5; UNCLASSIFIED DRUG;

3 M SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 2Q; GENE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; HOMOZYGOSITY; HUMAN; MICROARRAY ANALYSIS; MISSENSE MUTATION; NONSENSE MUTATION; OBSCURIN LIKE 1 GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST;

ADULT; CELLS, CULTURED; CHILD; CODON, NONSENSE; CULLIN PROTEINS; CYTOSKELETAL PROTEINS; FAMILY; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION; GROWTH DISORDERS; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEINS; MALE; MUTATION, MISSENSE; RNA, MESSENGER; SYNDROME;

EID: 74049134383     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21150     Document Type: Article

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