Results 71 to 80 of about 71,270 (242)

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

Peribiliary glands are key in regeneration of the human biliary epithelium after severe bile duct injury [PDF]

, 2019
Peribiliary glands (PBG) are a source of stem/progenitor cells organized in a cellular network encircling large bile ducts. Severe cholangiopathy with loss of luminal biliary epithelium has been proposed to activate PBG, resulting in cell proliferation ...
Carpino, Guido, de Jong, Iris E M, Gaudio, Eugenio, Gouw, Annette S H, Iswandana, Raditya, Lisman, Ton, Matton, Alix P M, Olinga, Peter, Oosterhuis, Dorenda, Overi, Diletta, Porte, Robert J, Suriguga, Su, van Haaften, Wouter T, van Praagh, Jasper B, van Wijk, Louise A, Wiersema-Buist, Janneke   +15 more
core   +8 more sources

Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease. [PDF]

, 2019
The MHC region is highly associated with autoimmune and infectious diseases. Here we conduct an in-depth interrogation of associations between genetic variation, gene expression and disease.
Aguiar, Assis, Auton, Bijvelds, Blackwell, Bonder, D'Antonio, D'Antonio-Chronowska, DeBoever, Dechecchi, DeGiorgio, Dendrou, Diwakar, Dobin, Eguchi, Ernst, Fehrmann, Freudenberg, Gambino, Gensterblum-Miller, Giambartolomei, González-Galarza, Gough, Graffelman, Guo, Hardy, Harrow, Herrmann, Holoshitz, Huang, Jakubosky, Jakubosky, Jensen, Jia, Kilpinen, Kilpinen, Klein, Kontakioti, Kundaje, Laki, Lam, Lee, Leung, Li, Li, Li, Li, Li, Lyczak, Mahdi, Mall, Matzaraki, Mayba, McNicholas, Miretti, Morison, Munder, Nariai, Norman, Oldstone, Panopoulos, Panousis, Pier, Robinson, Sondo, Stegle, Stoltz, Streeter, Tan, Tomati, Trowsdale, Van der Auwera, Vicente, Wilke, Yin, Zhang, Zheng   +76 more
core   +2 more sources

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

Analysis of polymorphic variants of CFTR (rs 113993960), IL-4 (rs 2243250), PRSS1 (rs 111033565), SPINK1 (rs ID 6690) and TNF-α (rs 1800629) Genes in Patients with Edematous Pancreatitis Living in Northern Bukovyna region

Galician Medical Journal, 2016
The occurrence of gene mutations affecting the formation of acute pancreatitis or exacerbation of chronic pancreatitis differs in different populations and ethnic groups. The objective of the research was to study the incidence of CFTR (rs 113 993 960),
Sergei Ivashchuk, Larysa Sydorchuk
doaj   +1 more source

Transforming Care in Cystic Fibrosis: The Long-Term Impact of Quality Improvement Projects on Clinical Outcomes. [PDF]

Pediatr Pulmonol
ABSTRACT Objective This study aimed to evaluate 5‐year outcomes of a structured quality improvement (QI) program implemented as part of the standard of care at our CF center, focusing on changes in body mass index (BMI) and forced expiratory volume in 1 s (FEV₁) in pwCF followed at our institution.
Karabulut S, Kalyoncu MY, Balcı MS, Cakar NM, Yıldız CA, Uzunoglu B, Tastan G, Kocaman D, Yeğit CY, Ergenekon AP, Eralp EE, Gokdemir Y, Karakoc F, Nasr SZ, Karadag B.   +14 more
europepmc   +2 more sources

Human sperm ion channel (dys)function:implications for fertilization [PDF]

, 2019
BACKGROUND: Intensive research on sperm ion channels has identified members of several ion channel families in both mouse and human sperm. Gene knock-out studies have unequivocally demonstrated the importance of the calcium and potassium conductances in ...
Barratt, Christopher L. R., Brown, Sean G., Martins da Silva, Sarah J., Publicover, Stephen J.   +3 more
core   +4 more sources

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

Plasma membrane-specific interactome analysis reveals calpain 1 as a druggable modulator of rescued Phe508del-CFTR cell surface stability [PDF]

, 2019
Cystic fibrosis (CF) is a genetic disease caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), a chloride channel normally expressed at the surface of epithelial cells.
Amaral, Margarida D., Barros, Patrícia, Matos, Ana Margarida, Matos, Paulo, Pepperkok, Rainer, Pinto, Francisco R.   +5 more
core  

Long‐term impact of Elexacaftor/Tezacaftor/ivacaftor on pulmonary, nutritional and metabolic outcomes in homozygous F508del cystic fibrosis patients: A real‐world cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aim Elexacaftor/tezacaftor/ivacaftor (ETI) has markedly improved cystic fibrosis (CF) outcomes. However, its long‐term impact on nutrition, metabolism and liver health remains underexplored. We assessed 30‐month changes in pulmonary, nutritional, metabolic and inflammatory markers in people with CF (PwCF) homozygous for F508del.
Nicola Perrotta, Luigi Angelo Fiorito, Roberta Vescovo, Anna Virgilio, Giulia Amato, Giuseppe Cimino   +5 more
wiley   +1 more source