Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression

Journal of Clinical Endocrinology and Metabolism

Volumn 86, Issue 7, 2001, Pages 3171-3175

  Achermann, John C ^a   Ito, Masafumi ^a   Silverman, Bernard L ^a   Habiby, Reema L ^a   Pang, Songya ^b   Rosler, Ariel ^c   Jameson, J Larry ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF ILLINOIS   (United States)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS RECEPTOR; GENE PRODUCT; NUCLEAR RECEPTOR DAX 1; UNCLASSIFIED DRUG;

ADRENAL FUNCTION; ADRENAL INSUFFICIENCY; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; FRAMESHIFT MUTATION; GENE CLUSTER; GENE FUNCTION; GENE MUTATION; GENETIC CODE; GENETIC TRANSCRIPTION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; INFANT; LIGAND BINDING; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; REPRESSOR GENE; TRANSCRIPTION REGULATION; X CHROMOSOME LINKED DISORDER;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL INSUFFICIENCY; ADRENOCORTICOTROPIC HORMONE; ALDOSTERONE; CELL LINE; CORTODOXONE; DNA-BINDING PROTEINS; EMBRYO; HUMANS; HYDROCORTISONE; HYPERKALEMIA; HYPONATREMIA; INFANT; INFANT, NEWBORN; KIDNEY; LINKAGE (GENETICS); MALE; MUTATION, MISSENSE; RECEPTORS, RETINOIC ACID; RENIN; REPRESSOR PROTEINS; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC; X CHROMOSOME;

EID: 0034924861     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.86.7.3171     Document Type: Article

References (35)

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