Results 41 to 50 of about 2,457 (125)

Orkambi® and amplifier co‐therapy improves function from a rare CFTR mutation in gene‐edited cells and patient tissue

EMBO Molecular Medicine, 2017
The combination therapy of lumacaftor and ivacaftor (Orkambi®) is approved for patients bearing the major cystic fibrosis (CF) mutation: ΔF508. It has been predicted that Orkambi® could treat patients with rarer mutations of similar “theratype”; however,
Steven V Molinski, Saumel Ahmadi, Wan Ip, Hong Ouyang, Adriana Villella, John P Miller, Po‐Shun Lee, Kethika Kulleperuma, Kai Du, Michelle Di Paola, Paul DW Eckford, Onofrio Laselva, Ling Jun Huan, Leigh Wellhauser, Ellen Li, Peter N Ray, Régis Pomès, Theo J Moraes, Tanja Gonska, Felix Ratjen, Christine E Bear   +20 more
doaj   +1 more source

Activity of lumacaftor is not conserved in zebrafish Cftr bearing the major cystic fibrosis‐causing mutation

FASEB BioAdvances, 2019
F508del‐cystic fibrosis transmembrane conductance regulator (CFTR) is the major mutant responsible for cystic fibrosis (CF). ORKAMBI®, approved for patients bearing this mutant, contains lumacaftor (VX‐809) that partially corrects F508del‐CFTR's ...
Onofrio Laselva, Steven Erwood, Kai Du, Zhenya Ivakine, Christine E. Bear   +4 more
doaj   +1 more source

The potentially beneficial central nervous system activity profile of ivacaftor and its metabolites

ERJ Open Research, 2018
Ivacaftor–lumacaftor and ivacaftor are two new breakthrough cystic fibrosis transmembrane conductance modulators. The interactions of ivacaftor and its two metabolites hydroxymethylivacaftor (iva-M1) and ivacaftorcarboxylate (iva-M6) with ...
Elena K. Schneider, Rachel M. McQuade, Vincenzo C. Carbone, Felisa Reyes-Ortega, John W. Wilson, Brenda Button, Ayame Saito, Daniel P. Poole, Daniel Hoyer, Jian Li, Tony Velkov   +10 more
doaj   +1 more source

Two Unanticipated Pregnancies While on Cystic Fibrosis Gene-Specific Drug Therapy

Journal of Patient Experience, 2020
Women with cystic fibrosis (CF) desire to become pregnant and accomplish the same life goals as women without CF. The underlying pathology of CF and medications used to treat this genetically transmitted disease can affect women’s reproductive potential.
Sigrid Ladores PhD, RN, PNP, CNE, Leigh Ann Bray PhD, MSN, RN, CNL, Janet Brown MSN, RN, CPN   +2 more
doaj   +1 more source

Light‐Enabled [2σ + 2π] Cycloadditions of Bicyclo[1.1.0]butanes and Alkenes by Ti‐Salen Photocatalysis

ChemistryEurope
Bicyclo[2.1.1]hexanes (BCHs) have emerged as promising three‐dimensional bioisosteres of benzenoids, garnering considerable interest from both synthetic and medicinal chemistry communities.
Jinping Xing, Dexia Li, Tianxiang Li, Yang Xu, Haosong Ren, Jun Zheng   +5 more
doaj   +1 more source

CFTR Therapeutics Normalize Cerebral Perfusion Deficits in Mouse Models of Heart Failure and Subarachnoid Hemorrhage

JACC: Basic to Translational Science, 2019
Summary: Heart failure (HF) and subarachnoid hemorrhage (SAH) chronically reduce cerebral perfusion, which negatively affects clinical outcome. This work demonstrates a strong relationship between cerebral artery cystic fibrosis transmembrane conductance
Darcy Lidington, PhD, Jessica C. Fares, MSc, Franziska E. Uhl, PhD, Danny D. Dinh, MSc, Jeffrey T. Kroetsch, PhD, Meghan Sauvé, PhD, Firhan A. Malik, PhD, Frank Matthes, PhD, Lotte Vanherle, MSc, Arman Adel, BSc, Abdul Momen, MD, PhD, Hangjun Zhang, MD, Roozbeh Aschar-Sobbi, PhD, Warren D. Foltz, PhD, Hoyee Wan, BSc, Manabu Sumiyoshi, MD, R. Loch Macdonald, MD, PhD, Mansoor Husain, MD, Peter H. Backx, PhD, DVM, Scott P. Heximer, PhD, Anja Meissner, PhD, Steffen-Sebastian Bolz, MD, PhD   +21 more
doaj   +1 more source

In utero and postnatal ivacaftor/lumacaftor therapy rescues multiorgan disease in CFTR-F508del ferrets

JCI Insight
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene, with F508del being the most prevalent mutation.
Idil Apak Evans, Xingshen Sun, Bo Liang, Amber R. Vegter, Lydia Guo, Thomas J. Lynch, Yan Zhang, Yulong Zhang, Yaling Yi, Yu Yang, Zehua Feng, Soo Yeun Park, Amanita Shonka, Hannah McCumber, Lisi Qi, Peipei Wu, Guangming Liu, Allison Lacina, Kai Wang, Katherine N. Gibson-Corley, David K. Meyerholz, Dominique H. Limoli, Bradley H. Rosen, Ziying Yan, Douglas J. Bartels, John F. Engelhardt   +25 more
doaj   +1 more source

Unveiling molecular insights: in silico exploration of TLR4 antagonist for management of dry eye syndrome

BMJ Open Ophthalmology
Background Dry eye disease is the most commonplace multifractional ocular complication, which has already affected millions of people in the world. It is identified by the excessive buildup of reactive oxygen species, leading to substantial corneal ...
Kothandan Sudhakar, Neeru Dugar, Srikanth Jupudi, Ravichandran Ashwin, Kuppusamy Gowthamarajan   +4 more
doaj   +1 more source

A Case Report of Pulmonary Exacerbation after Initiation of Lumacaftor/Ivacaftor Therapy in a CF Female with Complicated Lung Disease

Case Reports in Pulmonology, 2018
Novel targeted treatments for Cystic Fibrosis give rise to new hope for an ever-growing number of CF patients with various mutations. However, very little evidence and guidelines exist to steer clinical decisions regarding patients whose illness takes an
Elpis Hatziagorou, Eleana Kouroukli, Vasiliki Georgopoulou, John Tsanakas   +3 more
doaj   +1 more source

Advances in the treatment of cystic fibrosis: CFTR modulators

Anales de Pediatría (English Edition)
Cystic fibrosis is a severe genetic disease caused by variants in the CFTR gene. Although it is a multisystem disease, respiratory involvement is the main cause of morbidity and mortality.
Maria Dolores Pastor-Vivero, Jordi Costa i Colomer, Carlos Martín de Vicente, Saioa Vicente-Santamaria, Ruth Garcia Romero, David González Jiménez, Carmen Luna Paredes   +6 more
doaj   +1 more source