Results 11 to 20 of about 49,535 (243)

Cystic Fibrosis and Colorectal Cancer Risk: Reprogramming of the Intestinal Epithelial Niche and Cell-State Plasticity in the CFTR Modulator Era. [PDF]

Cell Prolif
In cystic fibrosis disorder, CFTR dysfunction drives multilayered intestinal niche disruption, including dysbiosis, inflammation, hypoxia, metabolic stress and genotoxic injury, promoting cell‐state plasticity and a pre‐neoplastic ecosystem. CFTR modulators and environmental factors may partially reshape these processes, highlighting opportunities for ...
Umashankar B, Pankonien I, Amaral M, Ooi CY, Jardé T, Waters SA.   +5 more
europepmc   +2 more sources

Описание клинической картины и оценка функциональной активности канала CFTR у пациента с комплексным аллелем [S466X; R1070Q] [PDF]

, 2023
The presence of pathogenic variants in the CFTR gene causes cystic fibrosis (CF) through various molecular mechanisms that affect the formation and functional activity of the CFTR chloride channel.
N. V. Bulatenko, S. A. Krasovskiy, Ю. Л. Мельяновская, Т. Б. Бухарова, Д. В. Гольдштейн, D. V. Goldshtein, M. G. Krasnova, Yu. L. Melianovskaya, С. А. Красовский, T. B. Bukharova, Н. В. Булатенко, М. Г. Краснова, А. С. Ефремова, A. S. Efremova   +13 more
core   +5 more sources

The first report on the association of celiac disease and cystic fibrosis in a tertiary care center in Saudi Arabia

International Journal of Pediatrics & Adolescent Medicine, 2022
Introduction: Celiac disease (CD) has been described before in Saudi Arabia (SA) to be at the range of 1% –2% in the general population, but the association of celiac disease and cystic fibrosis (CF) has never been described before in the Middle East ...
Hanaa Banjar, Ahmed Bawazir, Firas Ghomraoui, Khalid Alotaibi, Abduallah Alotaibi, Sarah Alotaibi, Reham Sayyari, Khalid Alsaleem   +7 more
doaj   +1 more source

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]

, 2014
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Salvadori L, De Gregorio, Fabiola, A. Zolin, Guido, Stefano, Villella, Valeria R., Angela Sepe (663715), Zolin, Anna, Carlo A. Leone, Pinna LA, Daniela De Stefano (131144), S. Esposito, Rosa GD, Andrea Venerando (460236), D. D. Stefano, Valeria R. Villella, Speranza Esposito (663714), Villella VR, Laura Salvadori (663717), Speranza Esposito, Antonella Tosco (214447), Anna Bossi (663721), A. Tosco, Sepe A, PETTOELLO MANTOVANI, MASSIMO, Stefano Guido, Valeria Raia (524374), F. . D. Gregorio, Esposito, Speranza, Zolin A, Pinna, Lorenzo A, Villella, Valeria R, Maiuri L, Maiuri MC, G. G. Kroemer, Venerando A, Carlo A Leone (663719), A. Bossi, M. Pettoello Mantovani, Maiuri, Maria C, Kroemer, Guido, Pettoello-Mantovani, Massimo, Anna Bossi, Gianni Bona (505628), A. Venerando, Sepe, Angela, M. C. Maiuri, Leone CA, Guido Kroemer (82802), Rosa Grassia, G. D. Rosa, Antonella Tosco, Pinna, Lorenzo A., Valeria R Villella (663713), Anna Zolin, Fabiola De Gregorio, L. A. Pinna, Mehta A, Gregorio FD, Raia V., C. A. Leone, Raia, Valeria, Venerando, Andrea, Fabiola De Gregorio (663716), Grassia R, G. Bona, PINNA, LORENZO, Anna Zolin (375161), L. Salvadori, Bossi, Anna, V. R. Villella, Maiuri, Luigi, Kroemer G, Gianni Bona, Salvadori, Laura, Massimo Pettoello-Mantovani (583212), Anil Mehta, Tosco A, Laura Salvadori, Anil Mehta (202506), A. Sepe, Tosco, Antonella, Maiuri, Maria C., Stefano DD, Mehta, Anil, Rosa Grassia (663718), R. Grassia, Esposito S, Luigi Maiuri, Bossi A, Stefano Guido (112114), De Stefano, Daniela, Massimo Pettoello Mantovani, A. Mehta, Giuseppe De Rosa (206289), S. Guido, De Rosa, Giuseppe, Grassia, Rosa, Guido S, Luigi Maiuri (663723), Lorenzo A Pinna (663722), Giuseppe De Rosa, Bona G, Maria C. Maiuri, Daniela De Stefano, L. Maiuri, V. Raia, Leone, Carlo A, Bona, Gianni, Valeria Raia, Angela Sepe, Maria C Maiuri (663720), Guido Kroemer, Leone, Carlo A.   +112 more
core   +1 more source

CFTR-function and ventilation inhomogeneity in individuals with cystic fibrosis. [PDF]

, 2021
BACKGROUND Increased (abnormal) ventilation inhomogeneity in individuals with mild Cystic Fibrosis (CF) lung disease may become a treatable trait for small-molecule therapeutics improving Cystic Fibrosis Transmembrane Regulator (CFTR) function.
Singer, F., Bernasconi, Nadine, Rochat, Isabelle, Rochat, I., Moeller, A., Bernasconi, N., Moeller, Alexander, Ratjen, F., Kurz, Johanna, Stanojevic, Sanja, Kurz, J., Shaw, Michelle, Kieninger, Elisabeth, Shaw, M., Ratjen, Felix, Kieninger, E., Singer, Florian, Stanojevic, S.   +17 more
core   +2 more sources

Analysis of polymorphic variants of CFTR (rs 113993960), IL-4 (rs 2243250), PRSS1 (rs 111033565), SPINK1 (rs ID 6690) and TNF-α (rs 1800629) Genes in Patients with Edematous Pancreatitis Living in Northern Bukovyna region

Galician Medical Journal, 2016
The occurrence of gene mutations affecting the formation of acute pancreatitis or exacerbation of chronic pancreatitis differs in different populations and ethnic groups. The objective of the research was to study the incidence of CFTR (rs 113 993 960),
Sergei Ivashchuk, Larysa Sydorchuk
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

Mechanism-based corrector combination restores ΔF508-CFTR folding and function. [PDF]

, 2013
The most common cystic fibrosis mutation, Delta F508 in nucleotide binding domain 1 (NBD1), impairs cystic fibrosis transmembrane conductance regulator (CFTR)-coupled domain folding, plasma membrane expression, function and stability. VX-809, a promising
Okiyoneda, T., Beekman, Jeffrey, Verkman, Alan, Soya, N., Bagdany, Miklos, Dekkers, J. F., Kurth, Mark, Lukacs, Gergely, Veit, G., Veit, Guido, Beekman, Jeffrey M., Hegedűs, Tamás, Soya, Naoto, Bagdany, M., Lukacs, Gergely L., Dekkers, Johanna, Xu, Haijin, Okiyoneda, Tsukasa, Verkman, Alan S., Simon, Ágnes, Roldan, Ariel, Dekkers, Johanna F.   +21 more
core   +1 more source

Conformational changes in the catalytically inactive nucleotide-binding site of CFTR. [PDF]

, 2013
A central step in the gating of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel is the association of its two cytosolic nucleotide-binding domains (NBDs) into a head-to-tail dimer, with two nucleotides bound at the ...
Mihályi Csaba, Vergani P, Töröcsik, B, Csanády, László, Csanády László, Mihályi, C, Csaba Mihályi, Paola Vergani, Vergani, Paola, Beáta Töröcsik, Szollosi, A, László Csanády, Szőllősi, András, Szöllősi András, Törőcsik, Beáta, Mihályi, Csaba, Andras Szollosi, Vergani, P, Törőcsik Beáta, Csanády, L   +19 more
core   +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
doaj   +1 more source