Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

Published:2004-08-02 Issue:1 Volume:5 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Claustres Mireille,Altiéri Jean-Pierre,Guittard Caroline,Templin Carine,Chevalier-Porst Françoise,Georges Marie Des

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-5-19.pdf

Reference27 articles.

1. Kiesewetter S, Macek M, Davis C, Curristin SM, Chu CS, Graham C, Shrimpton AE, Cashman SM, Tsui LC, Mickle J: A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet. 1993, 5: 274-278.

2. Savov A, Angelicheva D, Balassopoulou A, Jordanova A, Noussia-Arvanitakis S, Kalaydjieva L: Double mutant alleles: are they rare?. Hum Mol Genet. 1995, 4: 1169-1171.

3. Fanen P, Clain J, Labarthe R, Hulin P, Girodon E, Pagesy P, Goossens M, Edelman A: Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis. FEBS Lett. 1999, 452: 371-374. 10.1016/S0014-5793(99)00647-X.

4. Romey MC, Pallares-Ruiz N, Mange A, Mettling C, Peytavi R, Demaille J, Claustres M: A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression. J Biol Chem. 2000, 275: 3561-3567. 10.1074/jbc.275.5.3561.

5. Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD: Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat. 2000, 16: 143-156. 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J.

Cited by 46 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy;International Journal of Molecular Sciences;2023-12-21

2. Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel;Genes;2023-08-28

3. CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24;International Journal of Molecular Sciences;2023-03-08

4. Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy;International Journal of Molecular Sciences;2022-09-08

5. DNA sequencing analysis of cystic fibrosis transmembrane conductance regulator gene identifies cystic fibrosis‐associated variants in the Severe Asthma Research Program;Pediatric Pulmonology;2022-05-05

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3