Results 111 to 120 of about 1,459,532 (261)

Integrity and Stability of PTC Bearing CFTR mRNA and Relevance to Future Modulator Therapies in Cystic Fibrosis

, 2021
Major advances have recently been made in the development and application of CFTR (cystic fibrosis transmembrane conductance regulator) mutation class-specific modulator therapies, but to date, there are no approved modulators for Class I mutations, i.e.,
Vanessa C. C. Luz, Carlos M. Farinha, Margarida D. Amaral, Szymon Targowski, Luka A. Clarke, Sofia S. Ramalho   +5 more
core   +1 more source

Pharmacologic improvement of CFTR function rapidly decreases sputum pathogen density, but lung infections generally persist

The Journal of Clinical Investigation, 2023
Background Lung infections are among the most consequential manifestations of cystic fibrosis (CF) and are associated with reduced lung function and shortened survival.
David P. Nichols, Sarah J. Morgan, Michelle Skalland, Anh T. Vo, Jill M. Van Dalfsen, Sachinkumar B.P. Singh, Wendy Ni, Lucas R. Hoffman, Kailee McGeer, Sonya L. Heltshe, John P. Clancy, Steven M. Rowe, Peter Jorth, Pradeep K. Singh, the PROMISE-Micro Study Group   +14 more
doaj   +1 more source

Can Hormonal Therapy Improve the Outcomes of mTESE in Patients With Non‐Obstructive Azoospermia?

Andrology, EarlyView.
ABSTRACT Background Non‐obstructive azoospermia (NOA) represents the most severe form of male infertility. Hypogonadism is common in NOA patients, and normal testosterone (T) levels are considered essential for spermatogenesis. Fertility‐preserving hormonal therapy (FpHT) has been proposed to optimize hormonal milieu and improve sperm retrieval rates ...
Mattia Anfosso, Maria Schubert, Jann‐Frederik Cremers, Sabine Kliesch, Michael Zitzmann, Simone Bier   +5 more
wiley   +1 more source

CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine

Frontiers in Pharmacology, 2020
Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR mRNA and protein expression, function, stability or a combination of these.
Miquéias Lopes-Pacheco
doaj   +1 more source

The potential for biased signalling in the P2Y receptor family of GPCRs

British Journal of Pharmacology, EarlyView.
The purinergic receptor family is primarily activated by nucleotides, and contains members of both the G protein coupled‐receptor (GPCR) superfamily (P1 and P2Y) and ligand‐gated ion channels (P2X). The P2Y receptors are widely expressed in the human body, and given the ubiquitous nature of nucleotides, purinergic signalling is involved with a plethora
Claudia M. Sisk, Simon Pitchford, Graham Ladds   +2 more
wiley   +1 more source

Differential segment‐specific signalling pathways for guanylate cyclase C‐activated anion secretion in murine ileocolon

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Guanylate cyclase‐C (GC‐C) is the receptor for endogenous (uro)guanylin peptides, bacterial toxins and pharmacological analogues. Receptor activation leads to intestinal fluid loss, but also activates an antiproliferative pathway and is a promising target in colorectal cancer therapy.
Renjie Xiu, Johannes Reiner, Franz Hofmann, Azam Salari, Ursula Seidler   +4 more
wiley   +1 more source

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

CFTR nonsense variant with splicing defect has residual function that benefits from modulator treatments.

, 2018
(A) A schematic illustration of CFTR-Expression Minigene with introns 14–18 (introns 14 and 16 are full-length, and 15, 17, & 18 are abridged). Arrow indicates location of E831X (top).
Abigail Thaxton (5982758), Anya T. Joynt (5982743), Patrick R. Sosnay (2805430), Neeraj Sharma (1441195), Zhongzhu Lu (5982746), Calvin U. Cotton (5429477), Taylor A. Evans (5982731), Allison F. McCague (5982740), Christian Merlo (5982764), Sangwoo T. Han (5982749), Matthew J. Pellicore (5982734), Emily Davis (1324575), Natalie West (5982761), Karen S. Raraigh (2805427), Arianna F. Anzmann (5982752), Garry R. Cutting (177205), Melis A. Aksit (5982737), Laura B. Gottschalk (5982767), Anh-Thu N. Lam (5982755)   +18 more
core   +1 more source

Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor

, 2023
This is the data set for a manuscript reporting the impact of two rare cystic fibrosis-causing CFTR variants on the channel function of CFTR and the effects of the CFTR modulator ...
Veselu, Diana, Cutting, Garry R., Han, Sangwoo T., Al-Salmani, Majid K., Rodrat, Mayuree, Li, Hongyu, Sheppard, David, Raraigh, Karen S.   +7 more
core   +1 more source

Identification of drug repurposing candidates for the treatment of polycystic kidney disease

British Journal of Pharmacology, EarlyView.
Background and Purpose Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end‐stage renal disease with limited treatment options. Drug repurposing offers a promising strategy to find effective treatments. Experimental Approach We identified birinapant, bardoxolone methyl and salicylic acid as repurposing candidates for ADPKD and
Alina Meyer, Paraskevi Sotiropoulou, Koussai Bouker, Dennis Svedberg, Rebekkah Hammar, Hester Bange, Per Larsson, André Mateus, Daniel R. Dietrich, Per Artursson   +9 more
wiley   +1 more source