ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 8, 2012, Pages

  Kino, Tomoshige ^a   Pavlatou, Maria G ^a   Moraitis, Andreas G ^a   Nemery, Robin L ^b   Raygada, Margarita ^a   Stratakis, Constantine A ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b JOE DIMAGGIO CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; CORTICOTROPIN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; DEXAMETHASONE; ESTROGEN RECEPTOR; GLUCOCORTICOID; GLUCOCORTICOID RECEPTOR; HYDROCORTISONE; NUCLEAR PROTEIN; PROGESTERONE RECEPTOR; PROTEIN P53; SMALL INTERFERING RNA; THYROID HORMONE; THYROTROPIN; TRANSCRIPTIONAL INTERMEDIARY FACTOR 1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 764;

16P11.2 MICRODELETION; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME DELETION; CORTICOTROPIN BLOOD LEVEL; DEVELOPMENTAL DISORDER; FACE MALFORMATION; GENE OVEREXPRESSION; GENE SILENCING; GENETIC TRANSCRIPTION; HAPLOINSUFFICIENCY; HORMONE RESISTANCE; HORMONE RESPONSE; HUMAN; HUMAN CELL; HYDROCORTISONE BLOOD LEVEL; HYPERCORTISOLISM; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCHOOL CHILD; THYROTROPIN BLOOD LEVEL; ZNF764 GENE;

ANDROGENS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; DNA-BINDING PROTEINS; GLUCOCORTICOIDS; HAPLOINSUFFICIENCY; HCT116 CELLS; HUMANS; MALE; RECEPTORS, GLUCOCORTICOID; THYROID HORMONE RESISTANCE SYNDROME; TRANSCRIPTION FACTORS; ZINC FINGERS;

HUMAN HERPESVIRUS 4;

EID: 84864804918     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-3493     Document Type: Article

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