Results 21 to 30 of about 49,535 (243)

Strict coupling between CFTR's catalytic cycle and gating of its Cl- ion pore revealed by distributions of open channel burst durations [PDF]

, 2010
CFTR, the ABC protein defective in cystic fibrosis, functions as an anion channel. Once phosphorylated by protein kinase A, a CFTR channel is opened and closed by events at its two cytosolic nucleotide binding domains (NBDs).
Gadsby, David C., Gadsby, DC, Csanády, László, Csanady, L, Vergani, Paola, Vergani, P   +5 more
core   +1 more source

Cystic Fibrosis - a very common genetic disease among the population - a general review

Journal of Education, Health and Sport, 2023
Cystic fibrosis is the most common genetic disease inherited in an autosomal recessive manner occurring among populations of Caucasian descent. It is an incurable, multi-composition monogenic disease caused by mutations in the gene encoding the CFTR ...
Julia Rutkowska, Klaudia Skorek, Rafał Babiak, Karolina Bajak, Paulina Czuchryta, Anastazja Domańska, Agnieszka Gawęda, Agata Grabek, Żaneta Rzęsa-Tokarczyk, Agnieszka Urbańczyk   +9 more
doaj   +1 more source

CFTR POLYMORPHISMS OF HEALTHY INDIVIDUALS IN TWO CHINESE CITIES : CHANGCHUN AND NANJING [PDF]

, 2012
2012-08Background and Aim Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a chloride channel, cause cystic fibrosis.
NARUSE, SATORU, WEI, MU XIN, FUJIKI, KOTOYO, JIN, CHUN XIANG, SONG, YING, ZHANG, SU MIN, NAKAKUKI, MIYUKI, ISHIGURO, HIROSHI, PING, ZHANG   +8 more
core   +1 more source

Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the eastern anatolia region of Turkey

Medicine Science, 2021
Cystic fibrosis (CF, OMIM: #219700), caused by biallelic pathogenic variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is the most common monogenic disease.
Ayberk Turkyilmaz, Oguzhan Yarali
doaj   +1 more source

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

International Journal of Pediatrics & Adolescent Medicine, 2021
Introduction: Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. It has been found that screening for 10 most common cystic fibrosis transmembrane conductance regulator (CFTR) mutations can detect 80% of positive CFTR cases.
Hanaa Banjar, Ibrahim Al-Mogarri, Imran Nizami, Sami Al-Haider, Talal AlMaghamsi, Sara Alkaf, Abdulaziz Al-Enazi, Nabil Moghrabi   +7 more
doaj   +1 more source

Использование функциональных тестов для оценки остаточной активности канала CFTR и индивидуального подбора эффективных CFTR-модуляторов для лечения пациентов с муковисцидозом с «мягким» и «тяжелым» генетическими вариантами [PDF]

, 2021
Intestinal current measurement (ICM) and forskolin-induced swelling (FIS) assay in human intestinal organoids from rectal biopsies of cystic fibrosis (CF) patients are the new functional tests for assessment of CFTR channel activity that are widely used ...
N. V. Bulatenko, S. A. Krasovskiy, Ю. Л. Мельяновская, Н. Ю. Каширская, Т. Б. Бухарова, E. L. Amelina, Д. В. Гольдштейн, N. Yu. Kashirskaya, D. V. Goldshtein, С. А. Красовский, T. B. Bukharova, Н. В. Булатенко, Yu. L. Melyanovskaya, А. С. Ефремова, A. S. Efremova, Е. Л. Амелина   +15 more
core   +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

Cystic fibrosis: insights from zebrafish models [PDF]

Disease Models & Mechanisms
Sarahdja Cornélie, Laure Yatime, Georges Lutfalla, Stephen A. Renshaw, Audrey Bernut   +4 more
doaj   +2 more sources

Physiological parameters of Brazilian silverside, Atherinella brasiliensis, embryos exposed to different salinities [PDF]

Neotropical Ichthyology
Information regarding organism changes due to the variation of abiotic factors such as salinity are essential in both ecotoxicological and environmental monitoring studies. For this reason, the Brazilian silverside (Atherinella brasiliensis) embryos were
Carolina Brioschi Delpupo, Chris I. Espeland, Aline Karl Araújo, Jackson de Souza-Menezes, Daniela M. Pampanin, Natália Martins Feitosa   +5 more
doaj   +1 more source

Mycobacteriophage–antibiotic therapy promotes enhanced clearance of drug-resistant Mycobacterium abscessus

Disease Models & Mechanisms, 2021
Infection by multidrug-resistant Mycobacterium abscessus is increasingly prevalent in cystic fibrosis (CF) patients, leaving clinicians with few therapeutic options.
Matt D. Johansen, Matthéo Alcaraz, Rebekah M. Dedrick, Françoise Roquet-Banères, Claire Hamela, Graham F. Hatfull, Laurent Kremer   +6 more
doaj   +1 more source