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"Response to the letter to the editor "Concerns regarding the potentially causal role of FANCA heterozygous variants in human primary ovarian insufficiency"".

作者信息

Yang Xi, Zhang Feng, Shi Qinghua, Wu Yanhua

机构信息

Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, 200011, China.

Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China.

出版信息

Hum Genet. 2021 Apr;140(4):695-697. doi: 10.1007/s00439-020-02233-4. Epub 2020 Nov 11.

DOI:10.1007/s00439-020-02233-4
PMID:33175223
Abstract
摘要

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Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.对 142 例卵巢早衰、卵巢储备功能降低或不明原因不孕患者的 NR5A1 分析。
Maturitas. 2020 Jan;131:78-86. doi: 10.1016/j.maturitas.2019.10.011. Epub 2019 Nov 9.
2
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma.与嚼槟榔相关的口腔鳞状细胞癌的突变特征和诱变影响。
Hum Genet. 2019 Dec;138(11-12):1379-1389. doi: 10.1007/s00439-019-02083-9. Epub 2019 Nov 2.
3
DNA cross-link repair safeguards genomic stability during premeiotic germ cell development.
DNA 交联修复在减数分裂前生殖细胞发育过程中保障基因组稳定性。
Nat Genet. 2019 Aug;51(8):1283-1294. doi: 10.1038/s41588-019-0471-2. Epub 2019 Jul 31.
4
The Fanconi Anemia Pathway and Fertility.范可尼贫血途径与生育。
Trends Genet. 2019 Mar;35(3):199-214. doi: 10.1016/j.tig.2018.12.007. Epub 2019 Jan 22.
5
Targeted mass spectrometry enables robust quantification of FANCD2 mono-ubiquitination in response to DNA damage.靶向质谱分析能够可靠地定量检测 DNA 损伤应答中 FANCD2 的单泛素化。
DNA Repair (Amst). 2018 May;65:47-53. doi: 10.1016/j.dnarep.2018.03.003. Epub 2018 Mar 21.
6
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.UBE2T（FANCD2和FANCI泛素化所必需的E2泛素连接酶）缺乏会导致范可尼贫血的FA-T亚型。
Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25.
7
AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency.AMH 突变导致体外生物活性降低与卵巢早衰有关。
Hum Reprod. 2015 May;30(5):1196-202. doi: 10.1093/humrep/dev042. Epub 2015 Mar 6.
8
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.荟萃分析确定了 13 个与绝经年龄相关的位点，并强调了 DNA 修复和免疫途径。
Nat Genet. 2012 Jan 22;44(3):260-8. doi: 10.1038/ng.1051.
9
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.早发性卵巢功能不全中孕激素受体膜组分-1（PGRMC1）的表达、结构及功能改变
Hum Mol Genet. 2008 Dec 1;17(23):3776-83. doi: 10.1093/hmg/ddn274. Epub 2008 Sep 9.
10
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.范可尼贫血J基因BRIP1中的截短突变是低外显率的乳腺癌易感等位基因。
Nat Genet. 2006 Nov;38(11):1239-41. doi: 10.1038/ng1902. Epub 2006 Oct 8.