Results 101 to 110 of about 81,604 (317)

Elexacaftor–Tezacaftor–Ivacaftor Reduces Revision Sinus Surgery in People With Cystic Fibrosis

The Laryngoscope, EarlyView.
Elexacaftor–tezacaftor–ivacaftor (ETI) was associated with a significant decrease in the frequency and rate of endoscopic sinus surgeries in patients with cystic fibrosis. These findings suggest an improvement in CF‐related chronic rhinosinusitis outcomes following ETI and may influence future CF treatment decisions.
Amy Lin, Makanko Komara, Isaac Kistler, Zheng Hong Tan, Meredith Lind, Kavitha Kotha, Tendy Chiang   +6 more
wiley   +1 more source

Mutations in the Arabidopsis Peroxisomal ABC Transporter COMATOSE Allow Differentiation between Multiple Functions In Planta: Insights from an Allelic Series [PDF]

, 2008
COMATOSE (CTS), the Arabidopsis homologue of human Adrenoleukodystrophy protein (ALDP), is required for import of substrates for peroxisomal β-oxidation.
Baker, A., Baldwin, J.M., Baldwin, S.A., Dietrich, D., Holdsworth, M.J., Lousa, C.D., Schmuths, H., Theodoulou, F.A.   +7 more
core   +4 more sources

The Race to Salvage Glucocerebrosidase: Understanding Small‐Molecule Therapies for GBA1‐Associated Parkinsonism

Movement Disorders, EarlyView.
Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism‐of‐action of these compounds will facilitate development of GBA1‐modulating
Mark J. Henderson, Tiffany C. Chen, Logan M. Glasstetter, Yu Chen, Juan J. Marugan, Ellen Sidransky   +5 more
wiley   +1 more source

A Powerful and Universal Preimplantation Genetic Diagnosis Protocol for Cystic Fibrosis

European Medical Journal Reproductive Health, 2018
Background: Cystic fibrosis (CF) is one of the most common indications of preimplantation genetic diagnosis (PGD) for monogenic disorders worldwide. Aims: The aim of this article was to report a universal and powerful assay easily applicable to all ...
Victoria Viart, Aliya Ishmukhametova, Stéphanie Plaza, Garance Verrière, Florielle Saguet, Mireille Claustres, Anne Girardet   +6 more
doaj  

Setting priorities for development of emerging interventions against childhood diarrhoea [PDF]

, 2013
An expert panel exercise was conducted to assess feasibility and potential effectiveness of 10 emerging health interventions against childhood diarrhoea. Twelve international experts were invited to take part in a CHNRI priority setting process.
Bhutta, Black, Chopra, Fontaine, George, Gill, Horwood, Kosek, Lawn, Rudan, Rudan, Rudan, Rudan, Rudan, Tomlinson, Walker, Wazny, Wilson, Zipursky   +18 more
core   +1 more source

Interrelationships among handgrip strength, body composition, physical activity, and quality of life in adults with cystic fibrosis: A cross‐sectional study

Nutrition in Clinical Practice, EarlyView.
Abstract Background In individuals with cystic fibrosis (CF), lean mass and muscle strength are important predictors of clinical outcomes. This study evaluated associations among body composition, handgrip strength, muscle quality, physical activity, and health‐related quality of life in CF. Methods This observational, cross‐sectional study included 27
Benjamin H. Crain, Carly Harris, Moriah P. Bellissimo, Lucia A. Gonzalez Ramirez, Elizabeth A. Ivie, William R. Hunt, Vin Tangpricha, Thomas R. Ziegler, Ryan A. Harris, Jessica A. Alvarez   +9 more
wiley   +1 more source

Exome sequencing of Saudi Arabian patients with ADPKD

Renal Failure, 2019
Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP)
Fahad A. Al-Muhanna, Abdullah M. Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A. Alali, Afnan F. Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S. Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B. Lanktree, Amein K. Al-Ali   +19 more
doaj   +1 more source

Consequences of CRISPR-Cas9-Mediated CFTR Knockout in Human Macrophages

Frontiers in Immunology, 2020
Macrophage dysfunction is fundamentally related to altered immunity in cystic fibrosis (CF). How genetic deficits in the cystic fibrosis transmembrane conductance regulator (CFTR) lead to these defects remains unknown.
Shuzhong Zhang, Chandra L. Shrestha, Benjamin L. Wisniewski, Benjamin L. Wisniewski, Hanh Pham, Xucheng Hou, Wenqing Li, Yizhou Dong, Benjamin T. Kopp, Benjamin T. Kopp   +9 more
doaj   +1 more source

Modulator Therapy for Cystic Fibrosis: An Exploration of Current Research [PDF]

, 2020
Developing a drug therapy that addresses the root cause of cystic fibrosis (CF) by increasing CFTR protein levels has long been a research challenge. After genetic therapy failed because a suitable delivery system could not be found, researchers began ...
Rombocos, Jessalyn
core   +1 more source

Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis [PDF]

, 2014
CFTR is a dynamically regulated anion channel. Intracellular WNK1-SPAK activation causes CFTR to change permeability and conductance characteristics from a chloride-preferring to bicarbonate-preferring channel through unknown mechanisms.
Alkaade, Samer, Aloe, Amy, Amann, Stephen T., Anderson, Michelle A., Bahar, Ivet, Baillie, John, Banks, Peter A., Barmada, M. Michael, Brand, Randall E., Conwell, Darwin, Cote, Gregory, Gardner, Timothy B., Gelrud, Andres, General, Ignacio, Jung, Jinsei, Kienholz, Michelle L., LaRusch, Jessica, Lawrence, Christopher, Lee, Min Goo, Lewis, Michele D., North American Pancreatitis Study Group, Park, Hyun Woo, Romagnuolo, Joseph, Sandhu, Bimaljit, Slivka, Adam, Whitcomb, David C., Yadav, Dhiraj   +26 more
core   +4 more sources