Results 1 to 10 of about 81,604 (317)

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

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
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Reconstitution of CFTR ubiquitination identifies lysine-420 as a regulator of cell surface residence and current [PDF]

Biochemistry and Biophysics Reports
Background: The most common loss-of-function mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) is F508del. The misfolded F508del-CFTR protein is targeted for endoplasmic reticulum associated degradation (ERAD ...
Jennifer L. Goeckeler-Fried, Xuemei Zeng, Jeong S. Hong, Disha Joshi, Zhengrong Yang, Fan Jiang, John C. Kappes, Eric J. Sorscher, Jeffrey L. Brodsky   +8 more
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Antisense oligonucleotide targeting the E3 ligase RFFL potentiates CFTR modulator efficacy in CF primary bronchial epithelial cells [PDF]

Molecular Therapy: Nucleic Acids
Cystic fibrosis (CF) is most commonly caused by the ΔF508 mutation in the CFTR gene, leading to misfolding and degradation of the CFTR protein. Although CFTR modulators such as elexacaftor/tezacaftor/ivacaftor (ETI) provide clinical benefit, their ...
Daichi Hinata, Yukari Kai, Ryosuke Fukuda, Yuka Kamada, Yuuya Kasahara, Kiyomi Sasaki, Tokuyuki Yoshida, Satoshi Obika, Takao Inoue, Tsukasa Okiyoneda   +9 more
doaj   +2 more sources

Functional interplay between CFTR and pendrin: physiological and pathophysiological relevance

Frontiers in Bioscience-Landmark, 2022
The transport of chloride and bicarbonate across epithelia controls the pH and volume of the intracellular and luminal fluids, as well as the systemic pH and vascular volume.
Grazia Tamma, Silvia Dossena
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Investigating the Genetic Sequence of Exons and Exon-intron Junction Sequences of CFTR Gene by PCR Method in Families Suspected of Cystic Fibrosis in Khuzestan Province [PDF]

مجله دانشکده پزشکی اصفهان, 2023
Background: Cystic fibrosis is one of the most fatal multisystem disorders and the most common autosomal recessive disease in the white population, which occurs due to mutations in cystic fibrosis membrane regulatory proteins (CFTR).
Leili Delfi Fallah, Maryam Mehdi Sasan, Zahra Shahpouri Arani, Mahin Baratvand, Hashem Kazemi   +4 more
doaj   +1 more source

Angiotensin(1–7) activates MAS-1 and upregulates CFTR to promote insulin secretion in pancreatic β-cells: the association with type 2 diabetes

Endocrine Connections, 2022
Objective: The beneficial effect of angiotensin(1–7) (Ang(1–7)), via the ac tivation of its receptor, MAS-1, has been noted in diabetes treatment; however, how Ang(1–7) or MAS-1 affects insulin secretion remains elusive and whether the endoge nous level ...
Xue-Lian Zhang, Xinyi Zhao, Yong Wu, Wen-qing Huang, Jun-jiang Chen, Peijie Hu, Wei Liu, Yi-Wen Chen, Jin Hao, Rong-Rong Xie, Hsiao Chang Chan, Ye Chun Ruan, Hui Chen, Jinghui Guo   +13 more
doaj   +1 more source

CFTR deficiency aggravates Ang II induced vasoconstriction and hypertension by regulating Ca𝟐+ influx and RhoA/Rock pathway in VSMCs

Frontiers in Bioscience-Landmark, 2021
Background: Cystic fibrosis transmembrane conductance regulator (CFTR) has been associated with vascular tone and blood pressure (BP), however, its role in the genesis of hypertension remains elusive.
Liyan Zhao, Feng Yuan, Ni Pan, Yun Yu, Hanyan Yang, Yaosheng Liu, Ruomei Wang, Bin Zhang, Guanlei Wang   +8 more
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Analysis of Ivacaftor drug approval for cystic fibrosis patients with gating mutations. [PDF]

The Young Researcher, 2021
Cystic fibrosis is an inherited monogenetic disorder that leads to chronic respiratory and lung infections. These infections result in decreased quality of life in patients.
Nemirajaiah, S.
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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
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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
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