2型睑裂狭小-上睑下垂-内眦赘皮综合征中的基因组破坏：一种新型缺失-插入复合突变。 - Suppr

Genomic Disruption of in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation.

作者信息

Niu Bei-Bei, Tang Ning, Xu Qin, Chai Pei-Wei

机构信息

Scientific Research Center, Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China.

Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.

出版信息

Chin Med J (Engl). 2018 Oct 5;131(19):2380-2383. doi: 10.4103/0366-6999.241818.

DOI:10.4103/0366-6999.241818

PMID:30246734

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6166469/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e285/6166469/aeef8cdc981e/CMJ-131-2380-g001.jpg

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Genomic Disruption of in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation.2型睑裂狭小-上睑下垂-内眦赘皮综合征中的基因组破坏：一种新型缺失-插入复合突变。

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本文引用的文献

Int J Biol Sci. 2017 Jul 18;13(8):1019-1028. doi: 10.7150/ijbs.19532. eCollection 2017.

Corrigendum. Impaired fertility and FSH synthesis in gonadotrope-specific Foxl2 knockout mice.勘误：促性腺激素细胞特异性Foxl2基因敲除小鼠的生育力受损及促卵泡激素合成异常

Mol Endocrinol. 2015 Mar;29(3):484. doi: 10.1210/me.2015-1023.

The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology.转录因子 FOXL2：在卵巢生理学和病理学的十字路口。

Mol Cell Endocrinol. 2012 Jun 5;356(1-2):55-64. doi: 10.1016/j.mce.2011.06.019. Epub 2011 Jul 8.

Transcription factor FOXL2 protects granulosa cells from stress and delays cell cycle: role of its regulation by the SIRT1 deacetylase.转录因子 FOXL2 可保护颗粒细胞免受应激，并延缓细胞周期：其受 SIRT1 去乙酰化酶调节的作用。

Hum Mol Genet. 2011 May 1;20(9):1673-86. doi: 10.1093/hmg/ddr042. Epub 2011 Feb 2.

FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES).FOXL2 基因突变与中国人先天性上睑下垂综合征（BPES）家系相关。

Transl Res. 2011 Jan;157(1):48-52. doi: 10.1016/j.trsl.2010.08.005. Epub 2010 Sep 8.

The transcription factor FOXL2 in ovarian function and dysfunction.转录因子FOXL2在卵巢功能及功能障碍中的作用

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Genomic Disruption of in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2: A Novel Deletion-Insertion Compound Mutation.

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