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非综合征性早发性卵巢功能不全相关基因研究的最新进展

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

作者信息

Laissue Paul, Vinci Giovanna, Veitia Reiner A, Fellous Marc

机构信息

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, France; Inserm, U567 Paris, France.

出版信息

Mol Cell Endocrinol. 2008 Jan 30;282(1-2):101-11. doi: 10.1016/j.mce.2007.11.005. Epub 2007 Nov 19.

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.

摘要

卵巢早衰(POF)是导致不孕的常见病症,影响约1%的40岁以下女性。在POF患者中,卵巢功能障碍的特征是卵巢缺乏对垂体促性腺激素合成形成负反馈回路的反应。尽管大多数病例被认为是特发性的,但已发现多种病因,包括遗传因素。到目前为止,非综合征性POF的潜在遗传原因主要通过对家族病例的遗传连锁分析或基于动物模型对候选基因中的突变进行筛查来确定。在此,我们综述了候选基因研究的最新进展。

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