Zobrazeno 1 - 10
of 80
pro vyhledávání: '"δf508 mutation"'
Publikováno v:
Iranian Journal of Basic Medical Sciences, Vol 24, Iss 1, Pp 73-78 (2021)
Objective(s): Cystic fibrosis (CF) is an inherited autosomal recessive disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The present study aimed to investigate the genetic modification of CF w
Externí odkaz:
https://doaj.org/article/2f3a7233d4f9478592b0a905dae06bae
Autor:
Emina Halilbasic, Elisabeth Fuerst, Denise Heiden, Lukasz Japtok, Susanne C. Diesner, Michael Trauner, Askin Kulu, Peter Jaksch, Konrad Hoetzenecker, Burkhard Kleuser, Lili Kazemi-Shirazi, Eva Untersmayr
Publikováno v:
Nutrients, Vol 12, Iss 3, p 765 (2020)
Recent research has linked sphingolipid (SL) metabolism with cystic fibrosis transmembrane conductance regulator (CFTR) activity, affecting bioactive lipid mediator sphingosine-1-phosphate (S1P). We hypothesize that loss of CFTR function in cystic fi
Externí odkaz:
https://doaj.org/article/dd1a49b2658941a0b14df372cdede83d
Autor:
Mona M. El-Falaki, Walaa A. Shahin, Noussa R. El-Basha, Aliaa A. Ali, Dina A. Mehaney, Mona M. El-Attar
Publikováno v:
Journal of Advanced Research, Vol 5, Iss 5, Pp 563-568 (2014)
It was generally believed that Cystic fibrosis (CF) is rare among Arabs; however, the few studies available from Egypt and other Arabic countries suggested the presence of many undiagnosed patients. The aim of the present study was to determine the f
Externí odkaz:
https://doaj.org/article/08a816b478814bd2b7c76cb3dde007a9
Publikováno v:
New and Emerging Entities in Dermatology and Dermatopathology ISBN: 9783030800260
Aquagenic (palmoplantar) keratoderma is an uncommon hereditary or sporadic condition, whose pathogenesis is largely uncovered, but characterized by a peculiar transitory palmar and more rarely plantar skin wrinkling after brief water exposure. Associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10c0a1e1c8b427cd09c655af53180825
https://doi.org/10.1007/978-3-030-80027-7_19
https://doi.org/10.1007/978-3-030-80027-7_19
Autor:
Uwe Wollina
Publikováno v:
Clinical Cases in Pigmentary Disorders ISBN: 9783030508227
A 27-year-old male patient presented with whitish translucent lesions on his fingers and palms. He reported neither itch nor pain sensations. He suffered from idiopathic palmo-plantar hyperhidrosis and cystic fibrosis (CF). The latter disorder was co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c66c6193893ae1ab80ce6f6070e2f20f
https://doi.org/10.1007/978-3-030-50823-4_43
https://doi.org/10.1007/978-3-030-50823-4_43
Autor:
Hanoch Senderowitz, Weiyi Xu, Michael Zhenin, Samuel J. Bose, Jeng-Haur Chen, Molly Pik-Fan Wong, Xin-Ying Chen, Siyu Zhu, George P.H. Leung
Publikováno v:
Chen, X, Zhu, S, Zhenin, M, Xu, W, Bose, S, Wong, M P-F, Leung, G P H, Senderowitz, H & Jeng-Haur, C 2019, ' A defective flexible loop contributes to the processing and gating defects of the predominant cystic fibrosis-causing mutation ', FASEB Journal, vol. 33, no. 4, pp. 5126-5142 . https://doi.org/10.1096/fj.201801218RR
People with the genetic disease cystic fibrosis (CF) often carry a deletion mutation ΔF508 on the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) Cl‒ channel. This mutation greatly reduces the CFTR maturation process a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0472f8de556be70d0d1d8121db07c07c
https://hdl.handle.net/1983/dbc0af86-057f-46bd-9269-adae84355f77
https://hdl.handle.net/1983/dbc0af86-057f-46bd-9269-adae84355f77
Autor:
Askin Kulu, Michael Trauner, Denise Heiden, Elisabeth Fuerst, Susanne C. Diesner, Emina Halilbasic, Lukasz Japtok, Peter Jaksch, Burkhard Kleuser, Eva Untersmayr, Lili Kazemi-Shirazi, Konrad Hoetzenecker
Publikováno v:
Nutrients
Volume 12
Issue 3
Nutrients, Vol 12, Iss 3, p 765 (2020)
Volume 12
Issue 3
Nutrients, Vol 12, Iss 3, p 765 (2020)
Recent research has linked sphingolipid (SL) metabolism with cystic fibrosis transmembrane conductance regulator (CFTR) activity, affecting bioactive lipid mediator sphingosine-1-phosphate (S1P). We hypothesize that loss of CFTR function in cystic fi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5a9b45f2d2d232ccb5f48f0e17f82b7
https://doi.org/10.3390/nu12030765
https://doi.org/10.3390/nu12030765
Akademický článek
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Publikováno v:
Journal of Cystic Fibrosis. 17:S63
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c640eeabd463fefc0f67051afa85e26
https://doi.org/10.1016/s1569-1993(18)30312-6
https://doi.org/10.1016/s1569-1993(18)30312-6
Autor:
G. Wieczorek, P. Zielenkiewicz
Publikováno v:
Journal of Cystic Fibrosis. 7:295-300
Background The deletion of Phe508 in the first nucleotide-binding domain of the CFTR protein is the most common mutation leading to cystic fibrosis. Methods We present a Molecular Dynamics study on the native and mutated domains, based on their recen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94343a5a7391e0d28393e4122b2b491c
https://doi.org/10.1016/j.jcf.2007.11.008
https://doi.org/10.1016/j.jcf.2007.11.008