Results 131 to 140 of about 1,208,918 (256)

Targeting a genetic defect: cystic fibrosis transmembrane conductance regulator modulators in cystic fibrosis [PDF]

European Respiratory Review, 2013
Cystic fibrosis (CF) is caused by genetic mutations that affect the cystic fibrosis transmembrane conductance regulator (CFTR) protein. These mutations can impact the synthesis and transfer of the CFTR protein to the apical membrane of epithelial cells ...
Nico Derichs
doaj  

The extracellular calcium-sensing receptor regulates human fetal lung development via CFTR [PDF]

, 2016
Optimal fetal lung growth requires anion-driven fluid secretion into the lumen of the developing organ. The fetus is hypercalcemic compared to the mother and here we show that in the developing human lung this hypercalcaemia acts on the extracellular ...
Brennan, Sarah C., Dibble, Holly, Finney, Brenda, Galietta, Luis J., Kemp, Paul J., Monk, Bethan, Quilliam, Samantha, Riccardi, Daniela, Tseng, Hsiu-Er, Warburton, David, Wilkinson, William J.   +10 more
core   +1 more source

Characterizing CFTR modulated sweat chloride response across the cf population: Initial results from the CHEC-SC study [PDF]

, 2022
Nicole Mayer-Hamblett, Edith T. Zemanick, Katherine Odem‐Davis, Donald R. VanDevanter, Mark N. Warden, Steven M. Rowe, J. Young, MW Konstan, for-the-CHEC-SC-Study-Group   +8 more
openalex   +1 more source

The first Australian evidence‐based guidelines on male infertility

Medical Journal of Australia, EarlyView.
Abstract Introduction Infertility affects about one in six couples and a male factor may contribute to 50% of cases. Until recently, no Australian‐based clinical guidelines for the management of male infertility had been published. A panel of experts was assembled to formulate the first Australian evidence‐based guidelines on male infertility.
Darren J. Katz, Liza O’Donnell, Robert I. McLachlan, Tim J. Moss, Clare V. Boothroyd, Veena Jayadev, Sarah R. Catford   +6 more
wiley   +1 more source

Computational Framework for High Copy‐Number Probe Selection and Cross‐Binding Reduction

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT DNA probe design plays a critical role in biosensor‐based disease diagnostics, gene expression analysis and environmental monitoring. Traditional probe designs primarily target lower‐copy genetic sequences, often leading to low detection sensitivity due to limited hybridization events.
Younghwan Kim, Swomitra Kumar Mohanty
wiley   +1 more source

TFEB regulates lysosomal proteostasis [PDF]

, 2013
Loss-of-function diseases are often caused by destabilizing mutations that lead to protein misfolding and degradation. Modulating the innate protein homeostasis (proteostasis) capacity may lead to rescue of native folding of the mutated variants, thereby
Abrahamov, Alberto di Ronza, Altarescu, Ashley Ake, Balch, Balch, Beutler, Brown, Cho, Christophe, Desnick, Dionisi-Vici, Fan Wang, Ferrao-Gonzales, Fu, Futerman, Gennarino, Gieselmann, Ginzburg, Grabowski, Grabowski, Grace, Hruska, Huang, Karageorgos, Kim, Kiselyov, Koprivica, Krivit, Krivit, Krivit, Laura Segatori, Lieberman, Lopes, Lu, Lu, Lubke, Ma, Maley, Marco Sardiello, Marzia Savini, Medina, Meikle, Michelakakis, Mu, Mu, Neufeld, Nigg, Ong, Palmieri, Parr, Powers, Reczek, Rohrbach, Ron, Roversi, Sands, Sardiello, Sardiello, Sawkar, Sawkar, Schmitz, Schueler, Seregin, Settembre, Shapiro, Steingrimsson, Subramanian, Tropak, Tsuji, Tsuji, Tsunemi, Vandesompele, Wang, Wang, Wang, Wei, Welch, Wensi Song, Yu, Zhao   +80 more
core   +1 more source

In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators

British Journal of Pharmacology, Volume 182, Issue 24, Page 6063-6080, December 2025.
Background and Purpose Cystic fibrosis (CF) is due to loss‐of‐function variants of the CF transmembrane conductance regulator (CFTR) channel. The most effective treatment for people with CF carrying the F508del mutation is the triple combination of elexacaftor–tezacaftor–ivacaftor (ETI).
Emanuela Pesce, Valeria Tomati, Valeria Capurro, Mariateresa Lena, Cristina Pastorino, Miro Astore, Serdar Kuyucak, Benoit Chevalier, Elvira Sondo, Federico Cresta, Alice Dighero, Vito Terlizzi, Cristina Fevola, Stefano Costa, Maria Cristina Lucanto, Valeria Daccò, Laura Claut, Francesca Ficili, Benedetta Fabrizzi, Renata Bocciardi, Federico Zara, Carlo Castellani, Luis J. V. Galietta, Shafagh A. Waters, Alexandre Hinzpeter, Nicoletta Pedemonte   +25 more
wiley   +1 more source

Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis

Clinical Genetics, Volume 108, Issue 6, Page 726-730, December 2025.
CFTR carrier status detected via prenatal screening is associated with increased pancreatitis risk in women, but clinical recognition remains low. Integrating carrier results into electronic health records may enhance personalized care and aid in early diagnosis. ABSTRACT This study assessed the effect of CFTR pathogenic variant status, detected during
Lucas D. Richter, Douglas M. Ruderfer, Josh F. Peterson, Lisa A. Bastarache   +3 more
wiley   +1 more source

Heat-stable enterotoxins of enterotoxigenic Escherichia coli and their impact on host immunity [PDF]

, 2019
Enterotoxigenic Escherichia coli (ETEC) are an important diarrhea-causing pathogen and are regarded as a global threat for humans and farm animals. ETEC possess several virulence factors to infect its host, including colonization factors and enterotoxins.
Cox, Eric, Devriendt, Bert, Luo, Yu, Wang, Haixiu, Zhong, Zifu   +4 more
core   +1 more source

LRRC8A Regulates Outer Hair Cell Volume and Electromotility and is Required for Hearing

Advanced Science, Volume 12, Issue 41, November 6, 2025.
This study identifies LRRC8A‐dependent volume‐regulated anion channels (VRACs) as essential for cochlear outer hair cells' electromotility and auditory signal amplification. LRRC8A deficiency disrupts cell volume control, impairs auditory sensitivity, and causes deafness, while targeted LRRC8A re‐expression restores auditory function.
Shengnan Wang, Yuehui Xi, Qiaojun Fang, Sai Shi, Fei Wang, Fuyu Xian, Zhongyang Zhang, Yuxin Yang, Xishuo Jin, Xiaomin Wang, Chen Cao, Hailin Zhang, Nikita Gamper, Zhigang Xu, Haitao Shen, Ping Lv   +15 more
wiley   +1 more source