Zobrazeno 1 - 10
of 910
pro vyhledávání: '"ABCB4"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a severe hepatic disorder characterized by cholestasis. Elucidating the genotype-phenotype correlations and expanding the mutational spectrum of the ABCB4 gene are crucial for e
Externí odkaz:
https://doaj.org/article/01e07c958a924aa2b1fef7e48db8dc56
Publikováno v:
Journal of Cardiothoracic Surgery, Vol 19, Iss 1, Pp 1-6 (2024)
Abstract Background Cardiac dysfunction, including arrhythmias, may be one of the main clinical manifestations of Becker muscular dystrophy (BMD). Amiodarone is widely used to treat arrhythmia. However, multi-systemic toxicity caused by amiodarone, e
Externí odkaz:
https://doaj.org/article/d86ea8496a27445eb1cc849ad3f878f4
Akademický článek
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Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
The ATP binding cassette (ABC) transporters human ABCB1 and zebrafish (Danio rerio) Abcb4 are functionally homologous multixenobiotic/multidrug (MXR/MDR) efflux transporters that confer the efflux of a broad range of diverse chemical compounds from t
Externí odkaz:
https://doaj.org/article/64e175f4a21d44aeab6eb15c4041b80e
Autor:
Michele Da Broi, Aria Nouri, Gildas Patet, Luca Paun, Andrea Bartoli, Granit Molliqaj, Karl Schaller, Enrico Tessitore
Publikováno v:
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-6 (2023)
Abstract Background Klippel–Feil syndrome is a rare condition described in 1912 by Maurice Klippel and André Feil. It is defined as a congenital cervical fusion of at least two vertebrae, associated with a classical triad of clinical signs: short
Externí odkaz:
https://doaj.org/article/b32ff9abb0e046abadcf2e262a8b7ec0
Autor:
Fei Qiao, Feng Ren, Weiting Lu, Haoran Yang, Guiling Mo, Shuangshuang Wang, Lina Liu, Xiangtao Xu
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Progressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by intrahepatic cholestasis. PFIC-3 is caused by mutations in the ATP-binding cassette subfamily B
Externí odkaz:
https://doaj.org/article/1e78484298ae460eb8e0315dcb3292a7
Autor:
Kazuyoshi Furukawa, Kahori Okamoto-Matsuda, Kouji H. Harada, Mutsuko Minata, Toshiaki Hitomi, Hatasu Kobayashi, Akio Koizumi
Publikováno v:
Environmental Health and Preventive Medicine, Vol 29, Pp 21-21 (2024)
Background: Perfluorooctanoic acid (PFOA) is one of the major per- and polyfluoroalkyl substances. The role of ATP-binding cassette (ABC) transporters in PFOA toxicokinetics is unknown. Methods: In this study, two ABC transporters, ABCB1 and ABCB4, w
Externí odkaz:
https://doaj.org/article/6a296a2c154f4485b0607379ad84edc1
Autor:
Emmanuel Gonzales, Antoine Gardin, Marion Almes, Amaria Darmellah-Remil, Hanh Seguin, Charlotte Mussini, Stéphanie Franchi-Abella, Mathieu Duché, Oanez Ackermann, Alice Thébaut, Dalila Habes, Bogdan Hermeziu, Martine Lapalus, Thomas Falguières, Jean-Philippe Combal, Bernard Benichou, Sonia Valero, Anne Davit-Spraul, Emmanuel Jacquemin
Publikováno v:
JHEP Reports, Vol 5, Iss 10, Pp 100844- (2023)
Background & Aims: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disease caused by biallelic variations in ABCB4. Data reporting on the impact of genotype and of response to ursodeoxycholic acid (UDCA) therapy on long-t
Externí odkaz:
https://doaj.org/article/5e41a2b0590743f2ae9ca730fde774d7
Autor:
Rong Chen, Feng-Xia Yang, Yan-Fang Tan, Mei Deng, Hua Li, Yi Xu, Wen-Xian Ouyang, Yuan-Zong Song
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disease caused by pathogenic variants of the gene ABCB4. This study aimed to investigate the ABCB4 genotypic and the clinical phenotypic featur
Externí odkaz:
https://doaj.org/article/746bad5b34af4c09a8071d85965de423
Publikováno v:
Xin yixue, Vol 53, Iss 7, Pp 503-509 (2022)
ObjectiveTo investigate the clinical and genetic characteristics of progressive familial intrahepatic cholestasis type 3 （PFIC3）. Methods One case of PFIC3 was reported. Using the keywords of “child”and “progressive familial intrahepatic ch
Externí odkaz:
https://doaj.org/article/209cbfc7d79042a1bae9e6201d6fc4a4