The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.
作者信息
Reddy Ramesh, Nguyen Ngoc M P, Sarrabay Guillaume, Rezaei Maryam, Rivas Mayra C G, Kavasoglu Aysenur, Berkil Hakan, Elshafey Alaa, Abdalla Ebtesam, Nunez Kristin P, Dreyfus Hélène, Philippe Merviel, Hadipour Zahra, Durmaz Asude, Eaton Erin E, Schubert Brittany, Ulker Volkan, Hadipour Fatemeh, Touitou Isabelle, Fardaei Majid, Slim Rima
出版信息
Eur J Hum Genet. 2016 Oct;24(10):1516. doi: 10.1038/ejhg.2016.96.
Abstract
摘要
相似文献
1
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.NLRP7的基因组结构富含Alu序列，易发生与疾病相关的大片段缺失。
Eur J Hum Genet. 2016 Oct;24(10):1516. doi: 10.1038/ejhg.2016.96.
2
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.NLRP7的基因组结构富含Alu序列，易发生与疾病相关的大片段缺失。
Eur J Hum Genet. 2016 Oct;24(10):1445-52. doi: 10.1038/ejhg.2016.9. Epub 2016 Mar 9.
3
Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.范可尼贫血基因FAA中Alu介导的缺失的鉴定。
Hum Mutat. 1998;12(3):145-52. doi: 10.1002/(SICI)1098-1004(1998)12:3<145::AID-HUMU2>3.0.CO;2-G.
4
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.绝大多数VHL基因大片段种系缺失的基础是Alu-Alu重组：VHL患者的分子特征及基因型-表型相关性
Hum Mutat. 2009 May;30(5):776-86. doi: 10.1002/humu.20948.
5
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.在20个复发性葡萄胎家庭中鉴定出13种新的NLRP7突变；错义突变聚集在富含亮氨酸的区域。
J Med Genet. 2009 Aug;46(8):569-75. doi: 10.1136/jmg.2008.064196. Epub 2009 Feb 25.
6
Expression of NLRP7 (PYPAF3, NALP7) protein in endometrial cancer tissues.
Anticancer Res. 2008 Jul-Aug;28(4C):2493-7.
7
Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.BRCA1 基因的两个大型 Alu 介导重排的基因组特征。
J Hum Genet. 2013 Feb;58(2):78-83. doi: 10.1038/jhg.2012.137. Epub 2012 Dec 6.
8
Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.非复发性17p11.2缺失是由同源和非同源机制产生的。
Hum Genet. 2005 Jan;116(1-2):1-7. doi: 10.1007/s00439-004-1204-9. Epub 2004 Oct 22.
9
A genetic association study of NLRP2 and NLRP7 genes in idiopathic recurrent miscarriage.NLRP2 和 NLRP7 基因在不明原因复发性流产中的遗传关联研究。
Hum Reprod. 2013 Apr;28(4):1127-34. doi: 10.1093/humrep/det001. Epub 2013 Jan 29.
10
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.由Alu-Alu重组导致的吡哆醇依赖性癫痫中ALDH7A1基因内缺失。
Neurology. 2015 Sep 1;85(9):756-62. doi: 10.1212/WNL.0000000000001883. Epub 2015 Jul 29.
引用本文的文献
1
Familial recurrent molar pregnancy: positive for KHDC3L gene mutation.家族性复发性葡萄胎：KHDC3L 基因突变阳性。
BMJ Case Rep. 2023 Nov 2;16(11):e254435. doi: 10.1136/bcr-2022-254435.
2
The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.墨西哥复发性葡萄胎的遗传学：NLRP7 基因突变的强烈创始效应及其广泛存在的进一步证据。
J Assist Reprod Genet. 2021 Jul;38(7):1879-1886. doi: 10.1007/s10815-021-02132-1. Epub 2021 Mar 22.
3
Founder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles.KHDC3L基因p.M1V突变对伊朗复发性葡萄胎患者的奠基者效应。
Iran J Med Sci. 2020 Mar;45(2):118-124. doi: 10.30476/IJMS.2019.45335.
Zotero 插件