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

Pulichino, Anne-Marie; Vallette-Kasic, Sophie; Couture, Catherine; Gauthier, Yves; Brue, Thierry; David, Michel; Malpuech, Georges; Deal, Cheri; Van Vliet, Guy; De Vroede, Monique; Riepe, Felix G; Partsch, Carl-Joachim; Sippell, Wolfgang G; Berberoglu, Merih; Atasay, Begüm; Drouin, Jacques

Pulichino, Anne-Marie; Vallette-Kasic, Sophie; Couture, Catherine; Gauthier, Yves; Brue, Thierry; David, Michel; Malpuech, Georges; Deal, Cheri; Van Vliet, Guy; De Vroede, Monique; Riepe, Felix G; Partsch, Carl-Joachim; Sippell, Wolfgang G; Berberoglu, Merih; Atasay, Begüm; Drouin, Jacques.

Affiliation

Pulichino AM; Laboratoire de Génétique moléculaire, Institut de recherches cliniques de Montréal (IRCM), Montréal, Quebec, H2W 1R7 Canada.

Genes Dev ; 17(6): 711-6, 2003 Mar 15.

Article in En | MEDLINE | ID: mdl-12651888

Subject(s)

Adrenocorticotropic Hormone/deficiency; Homeodomain Proteins/genetics; Homeodomain Proteins/physiology; Mutation; Pituitary Gland/abnormalities; Transcription Factors/genetics; Transcription Factors/physiology; Animals; Blotting, Western; Cell Lineage; Codon, Nonsense; DNA Mutational Analysis; Exons; Gene Deletion; Genes, Recessive; Heterozygote; Humans; Mice; Models, Genetic; Models, Molecular; Mutation, Missense; Pedigree; Point Mutation; T-Box Domain Proteins

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pituitary Gland / Transcription Factors / Adrenocorticotropic Hormone / Homeodomain Proteins / Mutation Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Genes Dev Journal subject: BIOLOGIA MOLECULAR Year: 2003 Document type: Article Country of publication: United States

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