Effects of Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens–Associated Mutations on Cystic Fibrosis Transmembrane Conductance Regulator–Mediated Regulation of Separate Channels-Reference-Cited by-同舟云学术

Effects of Cystic Fibrosis and Congenital Bilateral Absence of the Vas Deferens–Associated Mutations on Cystic Fibrosis Transmembrane Conductance Regulator–Mediated Regulation of Separate Channels

Published:2000-05 Issue:5 Volume:66 Page:1485-1495
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mickle John E.,Milewski MichałI.,Macek Milan,Cutting Garry R.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference72 articles.

1. Generation of cAMP-activated chloride currents by expression of CFTR;Anderson;Science,1991

2. Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains;Anderson;Science,1992

3. Congenital bilateral absence of the vas deferens: a primarily genital form of cystic fibrosis;Anguiano;JAMA,1992

4. Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients;Audrézet;Hum Hered,1993

5. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR);Bear;Cell,1992

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1. Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling;Andrology;2017-12-07

2. A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction;American Journal of Physiology-Lung Cellular and Molecular Physiology;2016-12-01

3. Cystic Fibrosis;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

4. Transporter Proteins;Molecular Pharmacology;2012-11-29

5. The H-loop in the Second Nucleotide-binding Domain of the Cystic Fibrosis Transmembrane Conductance Regulator is Required for Efficient Chloride Channel Closing;Cellular Physiology and Biochemistry;2010