Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene-Reference-Cited by-同舟云学术

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Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene

Published:2012-06 Issue:2 Volume:500 Page:194-198
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Taulan Magali,Viart Victoria,Theze Corinne,Guittard Caroline,Altieri Jean-Pierre,Templin Carine,Mely Laurent,Claustres Mireille,des Georges Marie

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference15 articles.

1. Down-regulation of cystic fibrosis transmembrane conductance regulator gene expression by agents that modulate intracellular divalent cations;Bargon;Mol. Cell. Biol.,1992

2. Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe;Dork;Hum. Genet.,2000

3. Cooperative assembly and misfolding of CFTR domains in vivo;Du;Mol. Biol. Cell.,2009

4. Gene transfer of CFTR to airway epithelia: low levels of expression are sufficient to correct Cl− transport and overexpression can generate basolateral CFTR;Farmen;Am. J. Physiol. Lung Cell. Mol. Physiol.,2005

5. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms;Ferec;Eur. J. Hum. Genet.,2006

Cited by 8 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. Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry;Orphanet Journal of Rare Diseases;2021-10-02

2. Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD;Molecular Genetics & Genomic Medicine;2020-09-19

3. CFTR gene variants, epidemiology and molecular pathology;Archives de Pédiatrie;2020-02

4. Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population;Molecular Genetics & Genomic Medicine;2019-06-14

5. Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology;Clinical Chemistry and Laboratory Medicine (CCLM);2018-06-27

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