Literature DB >> 1472057

Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.

K Ohta1, Y Nobukuni, H Mitsubuchi, S Fujimoto, N Matsuo, H Inagaki, F Endo, I Matsuda.   

Abstract

Pit-1 is a pituitary-specific transcription factor that binds to and transactivates promoters of growth hormone and prolactin genes. In three unrelated Japanese children with combined pituitary hormone deficiency, we identified three point mutations in the Pit-1 gene, Pro24Leu, Arg143Gln, and Arg271Trp, located on the major transactivation region, POU-specific domain, and POU-homeodomain, respectively.

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Year:  1992        PMID： 1472057     DOI： 10.1016/0006-291x(92)92281-2

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


  20 in total

Review 1.  Other transcription factors and hypopituitarism.

Authors:  Laurie E Cohen; Sally Radovick
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

Review 2.  The role of homeodomain transcription factors in heritable pituitary disease.

Authors:  Kelly L Prince; Emily C Walvoord; Simon J Rhodes
Journal:  Nat Rev Endocrinol       Date:  2011-07-26       Impact factor: 43.330

3.  Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development.

Authors:  T Arrigo; M Wasniewska; F De Luca; M Valenzise; F Lombardo; D Vivenza; T Vaccaro; E Coradi; A Biason-Lauber
Journal:  J Endocrinol Invest       Date:  2006-03       Impact factor: 4.256

Review 4.  Genetic aspects of central hypothyroidism.

Authors:  R Collu
Journal:  J Endocrinol Invest       Date:  2000-02       Impact factor: 4.256

5.  CTNNB1 gene mutations, pituitary transcription factors, and MicroRNA expression involvement in the pathogenesis of adamantinomatous craniopharyngiomas.

Authors:  Marina Lanciotti Campanini; Leandro Machado Colli; Beatriz Maria Carvalho Paixao; Tatiana Pereira Freitas Cabral; Fernando Colbari Amaral; Helio Rubens Machado; Luciano Serafin Neder; Fabiano Saggioro; Ayrton Custodio Moreira; Sonir Roberto Rauber Antonini; Margaret de Castro
Journal:  Horm Cancer       Date:  2010-08       Impact factor: 3.869

6.  Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

Authors:  Marie-Laure Sobrier; Yu-Cheng Tsai; Christelle Pérez; Bruno Leheup; Tahar Bouceba; Philippe Duquesnoy; Bruno Copin; Daria Sizova; Alfredo Penzo; Ben Z Stanger; Nancy E Cooke; Stephen A Liebhaber; Serge Amselem
Journal:  Hum Mol Genet       Date:  2015-11-26       Impact factor: 6.150

7.  A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.

Authors:  Y Carlomagno; M Salerno; D Vivenza; D Capalbo; M Godi; S Mellone; L Tiradani; G Corneli; P Momigliano-Richiardi; G Bona; M Giordano
Journal:  J Endocrinol Invest       Date:  2009-05-12       Impact factor: 4.256

Review 8.  Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate.

Authors:  M Maghnie; S Ghirardello; E Genovese
Journal:  J Endocrinol Invest       Date:  2004-05       Impact factor: 4.256

9.  Vertical transmission of hypopituitarism: critical importance of appropriate interpretation of thyroid function tests and levothyroxine therapy during pregnancy.

Authors:  Elyse Pine-Twaddell; Christopher J Romero; Sally Radovick
Journal:  Thyroid       Date:  2013-06-21       Impact factor: 6.568

10.  A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.

Authors:  G Medeiros-Neto; D T Herodotou; S Rajan; S Kommareddi; L de Lacerda; R Sandrini; M C Boguszewski; A N Hollenberg; S Radovick; F E Wondisford
Journal:  J Clin Invest       Date:  1996-03-01       Impact factor: 14.808
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