Nonsense Mutations inFGF8Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency | Zendy

Ericka Barbosa Trarbach | Zendy; Ana Paula Abreu | Zendy; Letícia Ferreira Gontijo Silveira | Zendy; Heraldo Mendes Garmes | Zendy; Maria Tereza Matias Baptista | Zendy; Milena Gurgel Teles | Zendy; Elaine Maria Frade Costa | Zendy; Moosa Mohammadi | Zendy; Nelly Pitteloud | Zendy; Berenice B. Mendonça | Zendy; Ana Claudia Latrônico | Zendy

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Nonsense Mutations inFGF8Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency

Author(s) -

Ericka Barbosa Trarbach,

Ana Paula Abreu,

Letícia Ferreira Gontijo Silveira,

Heraldo Mendes Garmes,

Maria Tereza Matias Baptista,

Milena Gurgel Teles,

Elaine Maria Frade Costa,

Moosa Mohammadi,

Nelly Pitteloud,

Berenice B. Mendonça,

Ana Claudia Latrônico

Publication year - 2010

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2010-0176

Subject(s) - kallmann syndrome , endocrinology , nonsense mutation , medicine , hypogonadotropic hypogonadism , genetics , fgf8 , biology , missense mutation , proband , anosmia , mutation , gene , fibroblast growth factor , receptor , hormone , disease , covid-19 , infectious disease (medical specialty)

FGFR1 mutations cause isolated hypogonadotropic hypogonadism (IHH) with or without olfactory abnormalities, Kallmann syndrome, and normosmic IHH respectively. Recently, missense mutations in FGF8, a key ligand for fibroblast growth factor receptor (FGFR) 1 in the ontogenesis of GnRH, were identified in IHH patients, thus establishing FGF8 as a novel locus for human GnRH deficiency.

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