Results 91 to 100 of about 81,604 (317)

CFTR Functions as a Tumor Suppressor and Is Regulated by DNA Methylation in Colorectal Cancer

Cancer Management and Research, 2020
Can Liu,1 Chao Song,2 Jiaxi Li,3 Qing Sun1,3 1Department of Pathology, Shandong Provincial Qianfoshan Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong Province, People’s Republic of China; 2Department of Pathology, Zibo ...
Liu C, Song C, Li J, Sun Q
doaj  

3D Automated Segmentation of Bronchial Abnormalities on Ultrashort Echo Time MRI: A Quantitative MR Outcome in Cystic Fibrosis

Journal of Magnetic Resonance Imaging, EarlyView.
ABSTRACT Background Cystic fibrosis (CF) monitoring relies on computed tomography (CT), but ultra‐short echo time MRI (UTE‐MRI) offers a radiation‐free alternative. However, its clinical adoption is hindered by the laborious and subjective manual analysis, which prevents standardized quantification of bronchial abnormalities.
Amel Imene Hadj Bouzid, Ilyes Benlala, Baudouin Denis de Senneville, Fabien Baldacci, Julie Macey, Wadie Benhassen, Pan Su, Stephanie Bui, Maeva Zysman, Aurelien Bustin, Patrick Berger, Gael Dournes   +11 more
wiley   +1 more source

Regulation of CFTR Bicarbonate Channel Activity by WNK1: Implications for Pancreatitis and CFTR-Related DisordersSummary

Cellular and Molecular Gastroenterology and Hepatology, 2020
Backgraoud & Aims: Aberrant epithelial bicarbonate (HCO3−) secretion caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene is associated with several diseases including cystic fibrosis and pancreatitis.
Yonjung Kim, Ikhyun Jun, Dong Hoon Shin, Jihoon G. Yoon, He Piao, Jinsei Jung, Hyun Woo Park, Mary Hongying Cheng, Ivet Bahar, David C. Whitcomb, Min Goo Lee   +10 more
doaj   +1 more source

Regulation of CLC-1 chloride channel biosynthesis by FKBP8 and Hsp90β. [PDF]

, 2016
Mutations in human CLC-1 chloride channel are associated with the skeletal muscle disorder myotonia congenita. The disease-causing mutant A531V manifests enhanced proteasomal degradation of CLC-1.
Chen, Shu-Ching, Chen, Tsung-Yu, Hsieh, Hsin-Ying, Huang, Jing-Jia, Peng, Yi-Jheng, Tang, Chih-Yung, Wu, Chia-Ying, Wu, Hao-Han   +7 more
core   +1 more source

A retrospective cohort study evaluating the growth and clinical outcomes of preterm and term infants with cystic fibrosis during the first 11 years of life

JPGN Reports, EarlyView.
Abstract Objectives Infants with cystic fibrosis (iwCF) have lower birth weights than others. That influences nutritional and pulmonary outcomes. It was reported that 86.0% of iwCF were born full‐term and 14.0% preterm. Data on the role of gestational age in growth and clinical outcomes of people with cystic fibrosis (pwCF) is limited.
Hebah Reda, Sanjidah Ahmed, Julie Sturza, Samya Z. Nasr   +3 more
wiley   +1 more source

GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES

Андрология и генитальная хирургия, 2018
The objective is to study the occurrence of common genetic factors of male infertility in men with reproductive problems, their combinations and spermatological characteristics.Materials and methods.
N. Yu. Safina, T. A. Yamandi, V. B. Chernykh, L. V. Akulenko, S. V. Bogolyubov, I. I. Vityazeva, O. P. Ryzhkova, A. A. Stepanova, T. A. Adyan, E. A. Bliznets, A. V. Polyakov   +10 more
doaj   +1 more source

Peroxisome Proliferator-Activated Receptor alpha (PPAR alpha) down-regulation in cystic fibrosis lymphocytes [PDF]

, 2006
Background: PPARs exhibit anti-inflammatory capacities and are potential modulators of the inflammatory response. We hypothesized that their expression and/or function may be altered in cystic fibrosis (CF), a disorder characterized by an excessive host ...
A Augarten, A Linden, A Madej, A Trifilieff, AA Ionescu, AE Lovett-Racke, AP Sampson, B Staels, BM Forman, C Andersson, C Hubeau, C Hubeau, DC Jones, E Dagli, F Akbiyik, F McAllister, G Chinetti, H Pall, I Inoue, J Carlstedt-Duke, JD Dignam, JD Tugwood, JH Parmentier, JL Su, JM Shipley, JP Despres, JT Zakrzewski, K Balough, K Beier, KA Kreuzer, LS Nixon, M Ollero, M Roulet, MA Birrell, ME Poynter, N Marx, N Marx, P Delerive, P Greally, P Reineck, PM Farrell, PR Devchand, RB Moss, RB Moss, RB Moss, RU Sorensen, SD Freedman, SM Loitsch, SW Chung, TA Waldmann, TP Dean, TZ Khan, W Wahli, Z Israelian-Konaraki   +53 more
core   +4 more sources

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

Insulin-like growth factor 1 (IGF-1) enhances the protein expression of CFTR. [PDF]

PLoS ONE, 2013
Low levels of insulin-like growth factor 1 (IGF-1) have been observed in the serum of cystic fibrosis (CF) patients. However, the effects of low serum IGF-1 on the cystic fibrosis transmembrane conductance regulator (CFTR), whose defective function is ...
Ha Won Lee, Jie Cheng, Olga Kovbasnjuk, Mark Donowitz, William B Guggino   +4 more
doaj   +1 more source

Discovery of the Principal Cystic Fibrosis Mutation (F508del) in Ancient DNA from Iron Age Europeans [PDF]

, 2007
The most common, life-threatening autosomal recessive disease of Europeans and Euro-Americans, cystic fibrosis (CF), occurs predominately in patients with the F508del mutation.1 Although F508del is currently detectable as a single allele in 1/30-1/40 ...
Cedric Le Marechal, Claude Ferec, Malika Siker, Maria Teschler-Nicola, Philip Farrell   +4 more
core   +1 more source