Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations-Reference-Cited by-同舟云学术

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

Published:2017-09-04 Issue:6 Volume:87 Page:725-732
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Madeira Joao LO¹^ORCID,Nishi Mirian Y¹,Nakaguma Marilena¹,Benedetti Anna F¹,Biscotto Isabela Peixoto¹,Fernandes Thamiris²,Pequeno Thiago³,Figueiredo Thalita³,Franca Marcela M¹,Correa Fernanda A¹,Otto Aline P¹,Abrão Milena¹,Miras Mirta B⁴,Santos Silvana³,Jorge Alexander AL¹⁵,Costalonga Everlayny F²,Mendonca Berenice B¹,Arnhold Ivo JP¹,Carvalho Luciani R¹

Affiliation:

1. Unidade de Endocrinologia do Desenvolvimento; Laboratório de Hormônios e Genética Molecular LIM/42; Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP); São Paulo Brazil

2. Departamento de Clínica Médica da Faculdade de Medicina da Universidade Federal do Espírito Santo; Vitória Espírito Santo Brazil

3. Núcleo de Estudos em Genética e Educação; Universidade Estadual da Paraíba; Campina Grande Paraíba Brazil

4. Servicio de Endocrinología Hospital de Niños de la Santísima Trinidad Córdoba; Córdoba Argentina

5. Unidade de Endocrinologia-Genética - LIM/25; Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo (FMUSP); São Paulo Brazil

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.13430/fullpdf

Reference30 articles.

1. Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort;De Rienzo;Clin Endocrinol (Oxf),2015

2. Human Prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency;Duquesnoy;FEBS Lett,1998

3. The Ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of Rpx transcription and initiation of lineage-specific cell proliferation;Gage;Mol Endocrinol,1996

4. Mutations in PROP1 cause familial combined pituitary hormone deficiency;Wu;Nat Genet,1998

5. Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes;Osorio;J Clin Endocrinol Metab,2002

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