Results 131 to 140 of about 1,459,532 (261)

Management of Azoospermia: A Systematic Approach

The Obstetrician &Gynaecologist, EarlyView.
ABSTRACT Key Content Work‐up of azoospermic men includes a detailed history, physical examination and investigations to find the underlying cause. Causes and management of azoospermia (pre‐testicular, testicular and post‐testicular) with case presentations.
Naimah Raza, Alex Grammatis, Philippa Sangster, Jackson Kirkman‐Brown   +3 more
wiley   +1 more source

Triplet CFTR modulators: future prospects for treatment of cystic fibrosis

, 2018
Nauman Chaudary Division of Pulmonary Disease and Critical Care Medicine, Department of Medicine, Virginia Commonwealth University, Richmond, VA, USA Abstract: Cystic fibrosis (CF) is an autosomal recessive genetic disease characterized by mutations in
Chaudary N
core  

Optimizing nasal potential difference analysis for CFTR modulator development: assessment of ivacaftor in CF subjects with the G551D-CFTR mutation.

, 2013
Nasal potential difference (NPD) is used as a biomarker of the cystic fibrosis transmembrane conductance regulator (CFTR) and epithelial sodium channel (ENaC) activity.
Eric R. Olson (438293), John P. Clancy (438294), Bo Liu, Morty Cohen (438288), Aubrey Hill (438286), Frank J. Accurso (236320), John P Clancy, Anne J Stone, Claudia L Ordoñez, Anne J. Stone (438292), Claudia L. Ordoñez (438291), Steven M Rowe, Aubrey Hill, VX06-770-101 Study Group, Heather Hathorne (438287), Frank J Accurso, Qunming Dong (438290), Morty Cohen, John R Beamer, Eric R Olson, Steven M. Rowe (154935), Bo Liu (127343), Qunming Dong, Heather Hathorne, John R. Beamer (438289)   +24 more
core   +1 more source

Role of the SLC26A9 Chloride Channel as Disease Modifier and Potential Therapeutic Target in Cystic Fibrosis

Frontiers in Pharmacology, 2018
The solute carrier family 26, member 9 (SLC26A9) is an epithelial chloride channel that is expressed in several organs affected in patients with cystic fibrosis (CF) including the lungs, the pancreas, and the intestine. Emerging evidence suggests SLC26A9
Anita Balázs, Anita Balázs, Anita Balázs, Marcus A. Mall, Marcus A. Mall, Marcus A. Mall   +5 more
doaj   +1 more source

Calcium‐activated chloride channels in pericytes and their role in regulating organ blood flow

The Journal of Physiology, EarlyView.
Abstract figure legend Pericytes are microvascular mural cells with diverse roles. Contractile pericytes directly regulate local perfusion, while non‐contractile pericytes coordinate upstream vascular contractility via propagating electrical signals.
Paolo Tammaro, Hikaru Hashitani
wiley   +1 more source

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies

Traffic, Volume 27, Issue 3, September 2026.
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Devin Frisby, Gunjan Misri, Naava Naslavsky, Steve Caplan   +3 more
wiley   +1 more source

The Impact of CFTR Modulator Therapy on Exercise Intolerance and Oxygen Transport Metabolism in Cystic Fibrosis

, 2020
Cystic fibrosis (CF) is a fatal autosomal-recessive genetic disorder with multiorgan effects. Exercise intolerance is a common symptom, and exercise capacity is an important prognostic indicator in CF.
Caterini, Jessica Elizabeth
core  

DRIVE v3: Command Line Application for Identity‐by‐Descent Haplotype Clustering in Large Biobank Scale Data

Genetic Epidemiology, Volume 50, Issue 5, July 2026.
ABSTRACT There is a need for genetic analytical methods that integrate multi‐individual identity‐by‐descent (IBD) tools with phenotypic enrichment testing to discover novel shared haplotypes contributing to disease traits. Existing tools are designed to identify IBD sharing and leave interpretation and phenotype association tests to further analyses ...
James T. Baker, Hung‐Hsin Chen, Grahame F. Evans, Alyssa C. Scartozzi, Ryan J. Bohlender, Chad D. Huff, Quinn S. Wells, David C. Samuels, Jennifer E. Below   +8 more
wiley   +1 more source

Smart Integration of Structural Biology and Medicinal Chemistry to Unlock Target‐Driven Drug Discovery

Medicinal Research Reviews, Volume 46, Issue 4, Page 921-944, July 2026.
ABSTRACT To enhance drug discovery efforts, medicinal chemists should evaluate, filter, and utilize relevant structural information about target proteins. Acquiring and interpreting protein structures is crucial for elucidating ligand‐receptor interactions and addressing ADME‐related considerations, making it an essential aspect of medicinal chemistry.
Matteo Rossi Sebastiano, Giulia Apprato, Serena Francisco, Giuseppe Ermondi, Giulia Caron   +4 more
wiley   +1 more source

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.

PLoS Genetics, 2018
CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving the function of existing protein. Unfortunately, almost half of the disease-causing variants in CFTR are predicted to introduce premature termination ...
Neeraj Sharma, Taylor A Evans, Matthew J Pellicore, Emily Davis, Melis A Aksit, Allison F McCague, Anya T Joynt, Zhongzhu Lu, Sangwoo T Han, Arianna F Anzmann, Anh-Thu N Lam, Abigail Thaxton, Natalie West, Christian Merlo, Laura B Gottschalk, Karen S Raraigh, Patrick R Sosnay, Calvin U Cotton, Garry R Cutting   +18 more
doaj   +1 more source