In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells-Reference-Cited by-同舟云学术

In silico analysis and theratyping of an ultra-rare CFTR genotype (W57G/A234D) in primary human rectal and nasal epithelial cells

Published:2023-11 Issue:11 Volume:26 Page:108180
ISSN:2589-0042
Container-title:iScience
language:en
Short-container-title:iScience

Author:

Kleinfelder Karina,Lotti Virginia^ORCID,Eramo Adriana,Amato Felice,Lo Cicero Stefania,Castelli Germana,Spadaro Francesca,Farinazzo Alessia,Dell’Orco Daniele,Preato Sara,Conti Jessica,Rodella Luca,Tomba Francesco,Cerofolini Angelo,Baldisseri Elena,Bertini Marina,Volpi Sonia,Villella Valeria Rachela,Esposito Speranza,Zollo Immacolata,Castaldo Giuseppe,Laudanna Carlo,Sorsher Eric J.,Hong Jeong,Joshi Disha,Cutting Garry,Lucarelli Marco,Melotti Paola,Sorio Claudio

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference59 articles.

1. Background and Epidemiology;Sanders;Pediatr. Clin.,2016

2. Cystic fibrosis: molecular biology and therapeutic implications;Collins;Science,1992

3. Identification of the cystic fibrosis gene: chromosome walking and jumping;Rommens;Science,1989

4. Demonstration that CFTR is a chloride channel by alteration of its anion selectivity;Anderson;Science,1991

5. Cystic fibrosis transmembrane conductance regulator inhibits epithelial Na+ channels carrying Liddle's syndrome mutations;Hopf;J. Biol. Chem.,1999

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