Literature DB >> 18164539

Recent advances in the study of genes involved in non-syndromic premature ovarian failure.

Paul Laissue1, Giovanna Vinci, Reiner A Veitia, Marc Fellous.   

Abstract

Premature ovarian failure (POF) is a common pathology leading to infertility affecting about 1% of women under 40 years old. In POF patients, the ovarian dysfunction is characterized by the lack of the ovarian response to close a negative feedback loop on the synthesis of pituitary gonadotropins. Although the majority of cases are considered as idiopathic, diverse aetiologies have been associated, including genetic factors. Up to now, the potential genetic causes of non-syndromic POF have been established mainly by genetic linkage analysis of familial cases or by the screening of mutations in candidate genes based on animal models. Here, we review recent advances in the study of candidate genes.

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Year:  2007        PMID: 18164539     DOI: 10.1016/j.mce.2007.11.005

Source DB:  PubMed          Journal:  Mol Cell Endocrinol        ISSN: 0303-7207            Impact factor:   4.102


  16 in total

Review 1.  The multisystemic functions of FOXD1 in development and disease.

Authors:  Paula Quintero-Ronderos; Paul Laissue
Journal:  J Mol Med (Berl)       Date:  2018-06-29       Impact factor: 4.599

2.  Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregion.

Authors:  Kenichi Inagaki; Shunichi Shimasaki
Journal:  Mol Cell Endocrinol       Date:  2010-06-12       Impact factor: 4.102

3.  Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

Authors:  Yavuz Bayram; Suleyman Gulsuner; Tulay Guran; Ayhan Abaci; Gozde Yesil; Hilal Unal Gulsuner; Zeynep Atay; Sarah B Pierce; Tomasz Gambin; Ming Lee; Serap Turan; Ece Bober; Mehmed M Atik; Tom Walsh; Ender Karaca; Davut Pehlivan; Shalini N Jhangiani; Donna Muzny; Abdullah Bereket; Atilla Buyukgebiz; Eric Boerwinkle; Richard A Gibbs; Mary-Claire King; James R Lupski
Journal:  J Clin Endocrinol Metab       Date:  2015-03-16       Impact factor: 5.958

4.  A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics.

Authors:  Carlos Fernando Prada; Paul Laissue
Journal:  Mamm Genome       Date:  2014-08-03       Impact factor: 2.957

Review 5.  Cellular and molecular mechanisms of various types of oocyte aging.

Authors:  Toshifumi Takahashi; Hideki Igarashi; Mitsuyoshi Amita; Shuichiro Hara; Hirohisa Kurachi
Journal:  Reprod Med Biol       Date:  2011-07-02

6.  Mutations in NR5A1 associated with ovarian insufficiency.

Authors:  Diana Lourenço; Raja Brauner; Lin Lin; Arantzazu De Perdigo; Georges Weryha; Mihaela Muresan; Radia Boudjenah; Gil Guerra-Junior; Andréa T Maciel-Guerra; John C Achermann; Ken McElreavey; Anu Bashamboo
Journal:  N Engl J Med       Date:  2009-02-25       Impact factor: 91.245

Review 7.  Ovarian Follicular Theca Cell Recruitment, Differentiation, and Impact on Fertility: 2017 Update.

Authors:  JoAnne S Richards; Yi A Ren; Nicholes Candelaria; Jaye E Adams; Aleksandar Rajkovic
Journal:  Endocr Rev       Date:  2018-02-01       Impact factor: 19.871

8.  Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.

Authors:  Xue Jiao; Yingying Qin; Guangyu Li; Shidou Zhao; Li You; Jinlong Ma; Joe Leigh Simpson; Zi-Jiang Chen
Journal:  PLoS One       Date:  2013-09-20       Impact factor: 3.240

9.  Signal transducer and activator of transcription (STAT) 1 and STAT3 are expressed in the human ovary and have Janus kinase 1-independent functions in the COV434 human granulosa cell line.

Authors:  E R Frost; E A Ford; A E Peters; N L Reed; E A McLaughlin; M A Baker; R Lovell-Badge; J M Sutherland
Journal:  Reprod Fertil Dev       Date:  2020-08       Impact factor: 2.311

10.  Effects of low intensity pulsed ultrasound on expression of B-cell lymphoma-2 and BCL2-Associated X in premature ovarian failure mice induced by 4-vinylcyclohexene diepoxide.

Authors:  Haopeng Xu; Yi Xia; Juan Qin; Jie Xu; Chongyan Li; Yan Wang
Journal:  Reprod Biol Endocrinol       Date:  2021-07-20       Impact factor: 5.211

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