Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency

Genes and Development

Volumn 17, Issue 6, 2003, Pages 711-716

  Pulichino, Anne Marie ^a   Vallette Kasic, Sophie ^a,b   Couture, Catherine ^a   Gauthier, Yves ^a   Brue, Thierry ^b   David, Michel ^c   Malpuech, Georges ^d   Deal, Cheri ^e   Van Vliet, Guy ^e   De Vroede, Monique ^f   Riepe, Felix G ^g   Partsch, Carl Joachim ^g   Sippell, Wolfgang G ^g   Berberoglu, Merih ^h   Atasay, Begüm ^h   Drouin, Jacques ^a  

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^b Institut Jean Roche   (France)

^c CENTRE HOSPITALIER LYON SUD   (France)

^d HÔTEL DIEU   (France)

^e UNIVERSITY OF MONTREAL   (Canada)

^f UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^g UNIVERSITY OF KIEL   (Germany)

^h ANKARA UNIVERSITY   (Turkey)

Author keywords

Hormone deficiency; POMC; T box; Tbx19; Transcription factor

Indexed keywords

TRANSCRIPTION FACTOR;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL DIFFERENTIATION; CORTICOTROPIN DEFICIENCY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOUSE; NONHUMAN; ONSET AGE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN FAMILY; RECEPTOR GENE; STEM CELL;

ADRENOCORTICOTROPIC HORMONE; ANIMALS; BLOTTING, WESTERN; CELL LINEAGE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; GENE DELETION; GENES, RECESSIVE; HETEROZYGOTE; HOMEODOMAIN PROTEINS; HUMANS; MICE; MODELS, GENETIC; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PEDIGREE; PITUITARY GLAND; POINT MUTATION; TRANSCRIPTION FACTORS;

ANIMALIA;

EID: 0037444232     PISSN: 08909369     EISSN: None     Source Type: Journal    
DOI: 10.1101/gad.1065603     Document Type: Article

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