A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation

European Journal of Endocrinology

Volumn 166, Issue 4, 2012, Pages 743-752

  Mul, D ^a,e   Wu, S ^b,c,d   De Paus, R A ^a   Oostdijk, W ^a   Lankester, A C ^a   Van Duyvenvoorde, H A ^a   Ruivenkamp, C A L ^a   Losekoot, M ^a   Van Tol, M J D ^a   De Luca, F ^c,d   Van De Vosse, E ^a   Wit, J M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b XI'AN JIAOTONG UNIVERSITY   (China)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

^e JULIANA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CD2 ANTIGEN; CD28 ANTIGEN; CLONIDINE; GROWTH HORMONE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; STAT5B PROTEIN;

ARTICLE; CASE REPORT; CELL CULTURE; CHILD; CHROMOSOME 17Q; CHROMOSOME DUPLICATION; COMPUTER MODEL; CONTROLLED STUDY; CYTOKINE PRODUCTION; DISEASE ASSOCIATION; DISORDERS OF HORMONE METABOLISM; DRUG ACTIVITY; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GROWTH HORMONE INSENSITIVITY; HORMONE RESISTANCE; HORMONE RESPONSE; HORMONE SENSITIVITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INNATE IMMUNITY; LYMPHOBLAST; LYMPHOCYTE; LYMPHOCYTE SUBPOPULATION; MAP3K3 GENE; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; PRKCA GENE; SIGNAL TRANSDUCTION; SKIN FIBROBLAST; SUPPRESSOR GENE; T LYMPHOCYTE; TRANSCRIPTION REGULATION;

ANTIGENS, CD28; CELLS, CULTURED; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 17; ENZYME ACTIVATION; FEMALE; HUMANS; LARON SYNDROME; MOSAICISM; NF-KAPPA B; PHOSPHATIDYLINOSITOL 3-KINASES; SIGNAL TRANSDUCTION; STAT5 TRANSCRIPTION FACTOR; TRANSCRIPTIONAL ACTIVATION;

EID: 84859398147     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0774     Document Type: Article

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