A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Mullerian hormone signaling pathway

Li Lin; Zhou Xueya; Wang Xi; Wang Jing; Zhang Wei; Wang Binbin; Cao Yunxia; Kee Kehkooi

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A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Mullerian hormone signaling pathway

机译：AMHR2 ATP结合结构域的显性负突变与抗穆勒激素信号传导途径缺陷相关

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Does a heterozygous mutation in AMHR2, identified in whole-exome sequencings (WES) of patients with primary ovarian insufficiency (POI), cause a defect in anti-Mullerian hormone (AMH) signaling?

机译：在原发性卵巢功能不全（POI）患者的全外显子测序（WES）中鉴定出的AMHR2杂合突变是否会导致抗穆勒激素（AMH）信号传导缺陷？

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来源
《Molecular human reproduction.》 |2016年第10期|共10页
作者
Li Lin; Zhou Xueya; Wang Xi; Wang Jing; Zhang Wei; Wang Binbin; Cao Yunxia; Kee Kehkooi;
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正文语种 eng
中图分类呼吸生理;
关键词
primary ovarian insufficiency; anti-Mullerian hormone (AMH); AMHR2; dominant negative mutation; signaling pathway; granulosa cell; transforming growth factor-beta (TGF-beta); premature ovarian failure; ovarian follicle development;

机译：原发性卵巢功能不全;抗穆勒激素（AMH）;AMHR2;显性负突变;信号传导途径;颗粒细胞;转化生长因子-β（TGF-β）;卵巢早衰;卵巢卵泡发育;

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1. A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Mullerian hormone signaling pathway [J] . Li Lin, Zhou Xueya, Wang Xi, Molecular human reproduction. . 2016,第9a10期

机译：AMHR2 ATP结合结构域的显性负突变与抗穆勒激素信号传导途径缺陷相关
2. Mutational Analysis of the Putative Anti-Mullerian Hormone (AMH) Binding Interface on its Type II Receptor, AMHR2 [J] . Hart Kaitlin N., Pepin David, Czepnik Magdalena, Endocrinology . 2020,第7期

机译：II型受体（AMHR2）II型受体诱导抗Mullerian激素（AMH）结合界面的突变分析
3. Anti-Mullerian hormone receptor type 2 (AMHR2) expression in bovine oviducts and endometria: comparison of AMHR2 mRNA and protein abundance between old Holstein and young and old Wagyu females [J] . Reproduction, fertility, and development . 2020,第8期

机译：牛输卵管和子宫内膜中的抗Mullerian激素受体2（AMHR2）表达：AMHR2 mRNA和旧荷斯坦与年轻狼武株的蛋白质丰富的比较
4. An autoimmune disease-associated CTLA4 splice variant lacking the B7 binding domain signals negatively in T cells [C] . Lalitha Vijayakrishnan, Jacqueline M. Slavik, Zsolt Illes, Symposium on Genetics of Autoimmunity . 2005

机译：一种自身免疫疾病相关的CTLA4接头变体缺乏B7结合域在T细胞中产生负面信号
5. N-terminal domains of copper atpases in plasmodium falciparum, dictyostelium dicsoideum, human ATP7B and a chimera of Atox1 with metal binding domain 4four of ATP7B [D] . Kisaka, Javan Kilango. 2016

机译：恶性疟原虫，双歧杆菌，人ATP7B和Atox1嵌合体的铜atpases的N末端结构域具有金属结合结构域ATP7B的4four
6. Functional domains of the floral regulator AGAMOUS: characterization of the DNA binding domain and analysis of dominant negative mutations. [O] . Y Mizukami, H Huang, M Tudor, 1996

机译：花调节剂的功能结构域惊人：DNA结合结构域的表征和显性负突变的分析。
7. Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport [O] . C. Belville, J.-D. Marechal, S. Pennetier, 2009

机译：在持续的Mullerian管道综合征中发现的抗Mullerian激素II型受体的自然突变影响配体结合，信号转导和细胞运输

A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Mullerian hormone signaling pathway

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