Results 161 to 170 of about 1,459,532 (261)

Adenine base editing of CFTR using receptor targeted nanoparticles restores function to G542X cystic fibrosis airway epithelial cells

Cellular and Molecular Life Sciences
The cystic fibrosis (CF) causing variant G542X harbours a premature translation stop signal in the cystic fibrosis transmembrane conductance regulator (CFTR) mRNA. This results in nonsense-mediated decay and loss of functional CFTR protein which leads to
Isabelle Rose, Miriam Greenwood, Matthew Biggart, Natalie Baumlin, Robert Tarran, Stephen L. Hart, Deborah L. Baines   +6 more
doaj   +1 more source

Performance Evaluation of a Novel Cystic Fibrosis Caregiver Burden Measure Demonstrates Significant Challenges for Parents of Children With CF During the Early Years: The Irish Comparative Outcomes Study (ICOS)

Pediatric Pulmonology, Volume 61, Issue 6, June 2026.
ABSTRACT Background As a part of the Irish Comparative Outcome national cohort study of childhood CF, this cross‐sectional study investigated challenges faced by parents of children with CF (CWCF) in the Republic of Ireland using a newly validated modified tool. Methods Parents completed the modified “Challenge of Living with Cystic Fibrosis‐Short Form”
Rini Bhatnagar, Nancy Bhardwaj, Gwinyai Masukume, Ricardo Segurado, Barry Linnane, Mary Herzig, Muireann Ni Chronin, David Mullane, Des W. Cox, Paul McNally, Sheila Javadpour, Ruth O'Reilly, Basil Elnazir, Peter Greally, Fiona Healy, Michael Williamson, Dubhfeasa Slattery, Gareth McCray, Gillian Lancaster, Claire Glasscoe, Kevin W. Southern, Laura Kirwan, Patricia Fitzpatrick   +22 more
wiley   +1 more source

Lumacaftor-ivacaftor in the treatment of cystic fibrosis: design, development and place in therapy

Drug Design, Development and Therapy, 2019
GJ ConnettNational Institute for Health Research, Southampton Respiratory Biomedical Research Centre, University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UKAbstract: Lumacaftor-ivacaftor is a combination of two small molecule ...
Connett GJ
doaj  

Physiologically Based Pharmacokinetic Modeling of Elexacaftor/Tezacaftor/Ivacaftor in Infants With Cystic Fibrosis

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 6, June 2026.
ABSTRACT Ivacaftor is the only cystic fibrosis transmembrane conductance regulator modulator approved for infants ≥ 1 month. The elexacaftor/tezacaftor/ivacaftor combination, approved for children aged ≥ 2 years, has been shown to significantly slow CF progression.
Ngoc Hoa Truong, Sihem Benaboud, Naïm Bouazza, Eric Deneuville, Anne Mornand, Philippe Reix, Mélanie Ribault, Pierre‐Régis Burgel, Léo Froelicher‐Bournaud, Steeve Rouillon, Mohammed Rohi Sanoufi, Gabrielle Lui, Saïk Urien, Jean‐Marc Tréluyer, Isabelle Sermet‐Gaudelus, Frantz Foissac, Modul‐CF study group, Melissa Baravalle, Mahassen Barboura, Lilia Benhalla, Khadidja Bennour, Katia Bessaci, Antoine Bessou, Thiphaine Bihouée, Anne‐Sophie Bonnel, Nesrine Bouleghem, Stéphanie Bui, Frédérique Chedevergne, Harriet Corvol, Laure Cosson, Laure Couderc, Marie‐Laure Dalphin, Paola De Carli, Eric Deneuville, Pierre Foucaud, Asma Gabsi, Elsa Gachelin, Fatiha Hassani, Véronique Houdouin, Frédéric Huet, Marie Jamin, Kadiatou Kaba, Guillaume Labbé, Jane Languepin, Muriel Laurans, Cathy Léréna, Alexia Letierce, Clotilde Livrozet, Christophe Marguet, Laurent Mély, Rania Messaoudi, Marie Mittaine, Camille Ohlmann, Caroline Périsson, Thomas Perrin, Carole Piccini‐Bailly, Cinthia Rames, Philippe Reix, Natascha Rémus, Anna Ronayette, Djouher Sahki, Manuela Scalbert, Isabelle Sermet, Floriane Socchi, Nathalie Stremler, Aurélie Tatopoulos, Guillaume Thouvenin, Tom Toin, Françoise Troussier, Laurence Weiss, Marie‐Christine Werck‐Galois, Nathalie Wizla   +71 more
wiley   +1 more source

Novel Therapeutics for Chronic Obstructive Pulmonary Disease: From Empirical Bronchodilation to Precision Medicine

Respirology, Volume 31, Issue 6, Page 561-577, June 2026.
ABSTRACT Chronic obstructive pulmonary disease (COPD) remains the third leading cause of death worldwide, and conventional bronchodilator‐based therapies have limited efficacy in preventing exacerbations and disease progression. The 2024–2026 period represents a historic inflection point: three mechanistically distinct agents received Food and Drug ...
Naoya Fujino, Hisatoshi Sugiura
wiley   +1 more source

Unity Is Strength: The Mutual Alliance between CFTR and SLC26A6 as Therapeutic Opportunity in Cystic Fibrosis

Pharmaceuticals
Patients with cystic fibrosis (PwCF) have recently experienced an unprecedented breakthrough with the adoption of modulator therapy in clinical practice.
Marilena Pariano, Cinzia Antognelli, Luigina Romani, Claudio Costantini   +3 more
doaj   +1 more source

Pregnancies in women with rare diseases: Selected maternal and perinatal outcomes

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 6, Page 1088-1095, June 2026.
Pregnancies in women with rare diseases carry substantial disease‐related (23.2%) and pregnancy‐specific (25.1%) risks. Complication rates drop markedly when conditions are stable before conception. Abstract Introduction Rare diseases (RD) are characterized by chronicity and may be associated with reduced life expectancy and quality of life.
Philipp Kosian, Kristin Niederhöfer, Elena Jost, Ulrich Gembruch, Tim Bender, Lorenz Grigull, Waltraut Maria Merz   +6 more
wiley   +1 more source

Improved Quality of Life in Children With Cystic Fibrosis Who Received Transmembrane Conductance Regulator Modulators

Acta Paediatrica, Volume 115, Issue 6, Page 1283-1289, June 2026.
ABSTRACT Aim Children with cystic fibrosis (CF) face substantial daily treatment burdens and the effects of transmembrane conductance regulator modulators on these have not been sufficiently described. We evaluated changes in treatment burden after elexacaftor tezacaftor ivacaftor (ETI) was initiated.
Marcus Svedberg, Frida Lundqvist, Huda Abdulahi Östrand, Christina Krantz, Per Ekman, Henrik Imberg   +5 more
wiley   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, Volume 59, Issue 6, June 2026.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source

Potential Relationship Between YTHDF3 and CFTR in Myocardial Ischemia–Reperfusion Injury

Journal of Cellular and Molecular Medicine, Volume 30, Issue 11, June 2026.
ABSTRACT Myocardial ischemia–reperfusion injury (MIRI) is a common pathophysiological process in reperfusion therapy following myocardial infarction. It exacerbates myocardial damage and negatively impacts patient prognosis. This study aims to explore potential regulatory targets and related mechanisms in MIRI.
Baoxin Tang, Chenying Zhu, Heqing Wang, Mingkui Gao, Tieyan Li   +4 more
wiley   +1 more source