Results 71 to 80 of about 81,604 (317)

Osteoblast CFTR inactivation reduces differentiation and osteoprotegerin expression in a mouse model of cystic fibrosis-related bone disease. [PDF]

PLoS ONE, 2013
Low bone mass and increased fracture risk are recognized complications of cystic fibrosis (CF). CF-related bone disease (CFBD) is characterized by uncoupled bone turnover--impaired osteoblastic bone formation and enhanced osteoclastic bone resorption ...
Michael S Stalvey, Katrina L Clines, Viktoria Havasi, Christopher R McKibbin, Lauren K Dunn, W Joon Chung, Gregory A Clines   +6 more
doaj   +1 more source

Human sperm ion channel (dys)function:implications for fertilization [PDF]

, 2019
BACKGROUND: Intensive research on sperm ion channels has identified members of several ion channel families in both mouse and human sperm. Gene knock-out studies have unequivocally demonstrated the importance of the calcium and potassium conductances in ...
Barratt, Christopher L. R., Brown, Sean G., Martins da Silva, Sarah J., Publicover, Stephen J.   +3 more
core   +4 more sources

Optimization of pharmaceutical research and development by early‐phase assessment of investigational medicinal products

British Journal of Clinical Pharmacology, EarlyView.
Small and mid‐sized pharmaceutical innovators often have limited in‐house health economics and market access expertise, and may struggle to align development strategies of investigational medicinal products with health system needs and payer expectations.
Zoltán Kaló, Attila Imre, Gábor Varga, Sándor Kovács, György Tímár, Balázs Nagy   +5 more
wiley   +1 more source

Proteomic identification of calumenin as a G551D-CFTR associated protein. [PDF]

PLoS ONE, 2012
Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in the Caucasian population. It is due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Ling Teng, Mathieu Kerbiriou, Mehdi Taiya, Sophie Le Hir, Olivier Mignen, Nathalie Benz, Pascal Trouvé, Claude Férec   +7 more
doaj   +1 more source

Two Small Molecules Restore Stability to a Sub-population of the Cystic Fibrosis Transmembrane conductance Regulator with the Predominant Disease-causing Mutation [PDF]

, 2017
Cystic fibrosis (CF) is caused by mutations that disrupt the plasma membraneexpression, stability, and function of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.
Cai, Zhiwei, Ford, Robert C, Li, Hongyu, Meng, Xin, Rimington, Tracy, Sheppard, David, Wang, Xiaomeng, Wang, Yiting, Wrennall, Joe   +8 more
core   +2 more sources

Long‐term impact of Elexacaftor/Tezacaftor/ivacaftor on pulmonary, nutritional and metabolic outcomes in homozygous F508del cystic fibrosis patients: A real‐world cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aim Elexacaftor/tezacaftor/ivacaftor (ETI) has markedly improved cystic fibrosis (CF) outcomes. However, its long‐term impact on nutrition, metabolism and liver health remains underexplored. We assessed 30‐month changes in pulmonary, nutritional, metabolic and inflammatory markers in people with CF (PwCF) homozygous for F508del.
Nicola Perrotta, Luigi Angelo Fiorito, Roberta Vescovo, Anna Virgilio, Giulia Amato, Giuseppe Cimino   +5 more
wiley   +1 more source

Ubiquitination and degradation of CFTR by the E3 ubiquitin ligase MARCH2 through its association with adaptor proteins CAL and STX6. [PDF]

PLoS ONE, 2013
Golgi-localized cystic fibrosis transmembrane conductance regulator (CFTR)-associated ligand (CAL) and syntaxin 6 (STX6) regulate the abundance of mature, post-ER CFTR by forming a CAL/STX6/CFTR complex (CAL complex) that promotes CFTR degradation in ...
Jie Cheng, William Guggino
doaj   +1 more source

Enhanced Expression of Human Epididymis Protein 4 (HE4) Reflecting Pro-Inflammatory Status Is Regulated by CFTR in Cystic Fibrosis Bronchial Epithelial Cells

Frontiers in Pharmacology, 2021
Decreased human epididymis protein 4 (HE4) plasma levels were reported in cystic fibrosis (CF) patients under CFTR potentiator ivacaftor therapy, which inversely correlated with lung function improvement.
Zsolt Bene, Zsolt Bene, Zsolt Bene, Zsolt Fejes, Zsolt Fejes, Tibor Gabor Szanto, Ferenc Fenyvesi, Judit Váradi, Luka A. Clarke, Gyorgy Panyi, Milan Macek, Margarida D. Amaral, István Balogh, István Balogh, Béla Nagy, Béla Nagy   +15 more
doaj   +1 more source

Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease. [PDF]

, 2019
The MHC region is highly associated with autoimmune and infectious diseases. Here we conduct an in-depth interrogation of associations between genetic variation, gene expression and disease.
Aguiar, Assis, Auton, Bijvelds, Blackwell, Bonder, D'Antonio, D'Antonio-Chronowska, DeBoever, Dechecchi, DeGiorgio, Dendrou, Diwakar, Dobin, Eguchi, Ernst, Fehrmann, Freudenberg, Gambino, Gensterblum-Miller, Giambartolomei, González-Galarza, Gough, Graffelman, Guo, Hardy, Harrow, Herrmann, Holoshitz, Huang, Jakubosky, Jakubosky, Jensen, Jia, Kilpinen, Kilpinen, Klein, Kontakioti, Kundaje, Laki, Lam, Lee, Leung, Li, Li, Li, Li, Li, Lyczak, Mahdi, Mall, Matzaraki, Mayba, McNicholas, Miretti, Morison, Munder, Nariai, Norman, Oldstone, Panopoulos, Panousis, Pier, Robinson, Sondo, Stegle, Stoltz, Streeter, Tan, Tomati, Trowsdale, Van der Auwera, Vicente, Wilke, Yin, Zhang, Zheng   +76 more
core   +2 more sources

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source