Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Eli Fritz McDonald"'
Publikováno v:
PLoS ONE, Vol 19, Iss 1, p e0297560 (2024)
Variants in the cystic fibrosis transmembrane conductance regulator gene (CFTR) result in cystic fibrosis-a lethal autosomal recessive disorder. Missense variants that alter a single amino acid in the CFTR protein are among the most common cystic fib
Externí odkaz:
https://doaj.org/article/d9b8d3609c484310a0dc18ddebc2180b
Publikováno v:
PLoS ONE, Vol 19, Iss 1 (2024)
Externí odkaz:
https://doaj.org/article/127075e953a64d68aefb11616c76e9b9
Autor:
Eli Fritz McDonald, Hope Woods, Shannon T. Smith, Minsoo Kim, Clara T. Schoeder, Lars Plate, Jens Meiler
Publikováno v:
Biomolecules, Vol 12, Iss 3, p 471 (2022)
Cystic fibrosis (CF) is a rare genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR), an epithelial anion channel expressed in several vital organs. Absence of functional CFTR results in imbalanced osmo
Externí odkaz:
https://doaj.org/article/1714a81650424879aa472f0f4712ffcc
Autor:
Georg Kuenze, Amanda M Duran, Hope Woods, Kathryn R Brewer, Eli Fritz McDonald, Carlos G Vanoye, Alfred L George, Charles R Sanders, Jens Meiler
Publikováno v:
PLoS ONE, Vol 14, Iss 9, p e0220415 (2019)
The voltage-gated potassium channel KCNQ1 (KV7.1) assembles with the KCNE1 accessory protein to generate the slow delayed rectifier current, IKS, which is critical for membrane repolarization as part of the cardiac action potential. Loss-of-function
Externí odkaz:
https://doaj.org/article/34428767e7f74f1ab409652801eb3dd6