Results 51 to 60 of about 2,418 (178)

Localizing a gate in CFTR [PDF]

Proceedings of the National Academy of Sciences, 2015
Significance Cystic fibrosis transmembrane conductance regulator (CFTR), albeit a bona fide member of the ATP-binding cassette (ABC) transporter superfamily, is an ATP-gated chloride channel. However, phylogenetic analysis has led to a popular conjecture that CFTR evolves from a primordial ABC exporter by simply degenerating the ...
Xiaolong, Gao, Tzyh-Chang, Hwang
openaire   +2 more sources

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Cystic Fibrosis Polymorphic Variants in a Russian Population

Pharmacogenomics and Personalized Medicine, 2020
Anna Kiseleva,1,* Marina Klimushina,1,* Evgeniia Sotnikova,1,* Olga Skirko,1 Mikhail Divashuk,1,2 Olga Kurilova,1 Alexandra Ershova,1 Eleonora Khlebus,1 Anastasia Zharikova,1,3,4 Irina Efimova,1 Maria Pokrovskaya,1 Petr A Slominsky,5 Svetlana Shalnova,1 ...
Kiseleva A, Klimushina M, Sotnikova E, Skirko O, Divashuk M, Kurilova O, Ershova A, Khlebus E, Zharikova A, Efimova I, Pokrovskaya M, Slominsky PA, Shalnova S, Meshkov A, Drapkina O   +14 more
doaj  

Corneal Refractive Surgery Considerations in Patients with Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

International Medical Case Reports Journal, 2022
Majid Moshirfar,1– 3 Alex H Brown,4 Christian A Sulit,4 Wyatt M Corbin,5 Yasmyne C Ronquillo,1 Phillip C Hoopes1 1Hoopes Vision Research Center, Hoopes Vision, Draper, UT, USA; 2John A.
Moshirfar M, Brown AH, Sulit CA, Corbin WM, Ronquillo YC, Hoopes PC   +5 more
doaj  

Reproductive system status and the algorithm to solve fertility issues in men with cystic fibrosis

Alʹmanah Kliničeskoj Mediciny, 2019
Rationale: Cystic fibrosis (CF) is a common hereditary disease related to the CFTR gene mutations and characterized by progression and multiple system involvement (primarily of the digestive tract and / or pulmonary system).
S. A. Repina, S. A. Krasovskiy, G. V. Shmarina, M. I. Shtaut, E. K. Zhekayte, A. Yu. Voronkova, V. D. Sherman, E. I. Kondratyeva, V. B. Chernykh   +8 more
doaj   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh, Jessa E. Miller, Michelle J. Lee, Anna Zemke, David Baraghoshi, Matthew J. Strand, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Patricia H. Eshaghian, Anne E. Getz, Jennifer L. Goralski, David A. Gudis, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Jonathan B. Overdevest, Zara Patel, Daniella K. Safatian, Rodney J. Schlosser, Brent Senior, Amanda L. Stapleton, Timothy L. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor‐Cousar, Daniel M. Beswick   +34 more
wiley   +1 more source

Optimization of pharmaceutical research and development by early‐phase assessment of investigational medicinal products

British Journal of Clinical Pharmacology, EarlyView.
Small and mid‐sized pharmaceutical innovators often have limited in‐house health economics and market access expertise, and may struggle to align development strategies of investigational medicinal products with health system needs and payer expectations.
Zoltán Kaló, Attila Imre, Gábor Varga, Sándor Kovács, György Tímár, Balázs Nagy   +5 more
wiley   +1 more source

Elexacaftor–tezacaftor–ivacaftor enhances first-phase insulin secretion and improves glucose control in cystic fibrosis

Endocrine Connections
Objective: Cystic fibrosis (CF) is a congenital condition caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. CF-related diabetes (CFRD) is a common comorbidity among people with CF (pwCF) and is associated with increased ...
Anna Edlund, Ulrika Lindberg, Katarina Fagher, Lisa I Påhlman   +3 more
doaj   +1 more source

Osteoblast CFTR inactivation reduces differentiation and osteoprotegerin expression in a mouse model of cystic fibrosis-related bone disease. [PDF]

PLoS ONE, 2013
Low bone mass and increased fracture risk are recognized complications of cystic fibrosis (CF). CF-related bone disease (CFBD) is characterized by uncoupled bone turnover--impaired osteoblastic bone formation and enhanced osteoclastic bone resorption ...
Michael S Stalvey, Katrina L Clines, Viktoria Havasi, Christopher R McKibbin, Lauren K Dunn, W Joon Chung, Gregory A Clines   +6 more
doaj   +1 more source