TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.

Park JH, Ousingsawat J, Cabrita I, Bettels RE, Große-Onnebrink J, Schmalstieg C, Biskup S, Reunert J, Rust S, Schreiber R, Kunzelmann K, Marquardt T

Research article (journal) | Peer reviewed

Abstract

currents. Secondarily, CFTR function is affected due to the close interplay between both channels without inducing cystic fibrosis (CF).

Details about the publication

JournalJournal of Medical Genetics (J Med Genet)
Volume58
Issue4
Page range247-253
StatusPublished
Release year2021 (31/05/2021)
Language in which the publication is writtenEnglish
DOI10.1136/jmedgenet-2020-106978
KeywordsAnoctamin-1; Biological Transport; Calcium; Chloride Channels; Chlorides; Cystic Fibrosis; Female; Genetic Predisposition to Disease; HEK293 Cells; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Male; Neoplasm Proteins

Authors from the University of Münster

Park, Julien Heinrich
University Children's Hospital - Department for General Paediatrics