Zobrazeno 1 - 10
of 341
pro vyhledávání: '"cftr mutation"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 11, Pp n/a-n/a (2023)
Abstract Background Isolated congenital bilateral absence of vas deferens (iCBAVD) in men results in obstructive azoospermia and is mainly caused by pathogenic variants in cystic fibrosis transmembrane conductance regulator (CFTR) or adhesion G prote
Externí odkaz:
https://doaj.org/article/6d79f642010742e2a446e77306fabe6d
Autor:
Jian-Wen Hou, Xiao-Liang Li, Li Wang, Cong-Ling Dai, Na Li, Xiao-Hui Jiang, Yue-Qiu Tan, Er-Po Tian, Qin-Tong Li, Wen-Ming Xu
Publikováno v:
Asian Journal of Andrology, Vol 25, Iss 1, Pp 58-65 (2023)
Congenital bilateral absence of the vas deferens (CBAVD) is observed in 1%–2% of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. CFTR is one of the most well-kno
Externí odkaz:
https://doaj.org/article/d93b4c6cd9634101bfe5a260da361346
Publikováno v:
Life, Vol 14, Iss 5, p 565 (2024)
Calcitonin gene-related peptide (CGRP) has long been implicated in both the physiology and pathophysiology of the respiratory tract. The objective of our study was to determine the serum concentration of alpha CGRP (αCGRP) in cystic fibrosis (CF) th
Externí odkaz:
https://doaj.org/article/221e1b8e21e444a5a6c8d9a642796633
Autor:
Amin Hosseini Nami, Mahboubeh Kabiri, Fatemeh Zafarghandi Motlagh, Tina Shirzadeh, Negar Fakhari, Ali Karimi, Hamideh Bagherian, Mojdeh Jamali, Shahrzad Younesikhah, Sara Shadman, Razie Zeinali, Sirous Zeinali
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Objectives: Cystic fibrosis (CF) is the most prevalent autosomal recessive disorder among Caucasians. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause this pathology. We, therefore, aimed to describe the CFTR mut
Externí odkaz:
https://doaj.org/article/12230b9b921343a382486274b6b8f73a
Autor:
Sumaiya Hafiz, Sarah Al Qassimi, Ali Saeed Wahla, Mahmoud El-Kaissi, Mateen Uzbek, Irfan Shafiq
Publikováno v:
European Journal of Case Reports in Internal Medicine (2023)
Cystic fibrosis (CF) is a common autosomal recessive disorder which is mainly found in Caucasians but has also been reported in Asian populations. CF is primarily caused by mutations in the CFTR gene which regulates the transport of chloride ions acr
Externí odkaz:
https://doaj.org/article/ee472fd71b6f49d1ab4780c05af882e6
Autor:
Merlin Thomas, Soha Aboukhalaf, Toqa Darwish, Menatalla Ali, Omar Elsaied, Mutaz Al Bakri, Mostafa Najim, Mohamed M. Emara, Mona Al Langawi
Publikováno v:
Microbiology Research, Vol 12, Iss 3, Pp 591-605 (2021)
Chronic airway colonization by bacteria and fungi is very common in CF patients, causing irreversible lung damage. It is known that rates of fungal infections are much lower than those of bacterial infections, however they can worsen the medical cond
Externí odkaz:
https://doaj.org/article/e065168a4a684bd2ba0005eb30d8a0d1
Akademický článek
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Akademický článek
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Publikováno v:
Balkan Journal of Medical Genetics, Vol 22, Iss 1, Pp 35-40 (2019)
The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the CFTR gene. The knowledge of CFTR mutations present in certain population is important for designing a simple,
Externí odkaz:
https://doaj.org/article/c5392eab85834d198b8e63ced517a705
Autor:
Roberto Imberti, Maria Lisa Garavaglia, Ivan Verduci, Gaetano Cannavale, Giorgio Balduzzi, Sara Papetti, Michele Mazzanti
Publikováno v:
Respiratory Research, Vol 19, Iss 1, Pp 1-11 (2018)
Abstract Background Although pharmacological treatment has increased the average life expectancy of patients with cystic fibrosis, the median survival of females is shorter than that of males. In vitro and in vivo studies have shown that estrogens pl
Externí odkaz:
https://doaj.org/article/6770ce939c8e49c9810a7b4b60dad5b6