Zobrazeno 1 - 10
of 396
pro vyhledávání: '"Cx26"'
Autor:
Ana Carla Batissoco, Dayane Bernardino Cruz, Thiago Geronimo Pires Alegria, Gerson Kobayashi, Jeanne Oiticica, Luis Eduardo Soares Netto, Maria Rita Passos-Bueno, Luciana Amaral Haddad, Regina Célia Mingroni Netto
Publikováno v:
Genetics and Molecular Biology, Vol 47, Iss 2 (2024)
Abstract Pathogenic DNA alterations in GJB2 are present in nearly half of non-syndromic hearing loss cases with autosomal recessive inheritance. The most frequent variant in GJB2 causing non-syndromic hearing loss is the frameshifting c.35del. GJB2 e
Externí odkaz:
https://doaj.org/article/c6713cfb621f46a69541e86a7eda7f3b
Autor:
Haider Majid Haider Al-Zaidi, Fatemehsadat Mousavinasab, Nika Radseresht, Ali Reza Mirzaei, Yasaman Moradi, Mohammad Mahmoudifar
Publikováno v:
Cellular, Molecular and Biomedical Reports, Vol 3, Iss 3, Pp 163-171 (2023)
Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the cause is a heterogeneous genetic abnormality and is caused by the changes that occur in the genes involved in the hearing process. Mutations in GJB2 and SLC26A
Externí odkaz:
https://doaj.org/article/b7e79f9841fc4119af94c1e9e3033876
Publikováno v:
Pifu-xingbing zhenliaoxue zazhi, Vol 30, Iss 1, Pp 50-55 (2023)
Objective To investigate the effect of G12R mutation in Cx26 on the expression of TLR2 and its downstream inflammatory factors in human keratinocytes. Methods Human keratinocytes (HaCaT) without (WT-Cx26) or with G12R-mutation (G12R-Cx26) were co-cul
Externí odkaz:
https://doaj.org/article/c35fd34d0e6b4eab9d60716c3eb3f89c
Autor:
Cheng-Yu Tsai, Ying-Chang Lu, Yen-Hui Chan, Navaneethan Radhakrishnan, Yuan-Yu Chang, Shu-Wha Lin, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Lee-Wei Yang, Chen-Chi Wu
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 5698-5711 (2023)
Variants in the gap junction beta-2 (GJB2) gene are the most common cause of hereditary hearing impairment. However, how GJB2 variants lead to local physicochemical and structural changes in the hexameric ion channels of connexin 26 (Cx26), resulting
Externí odkaz:
https://doaj.org/article/4cc6f64e81f44b9c8a1e0e677fb5c287
Autor:
Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko
Publikováno v:
Biomolecules, Vol 13, Iss 10, p 1521 (2023)
One of the most common forms of genetic deafness has been predominantly associated with pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 (Cx26). The Cx26 molecule consists of an N-terminal domain (NT), four transmembra
Externí odkaz:
https://doaj.org/article/5bbd6f9521204f649ff5bb0021773879
Akademický článek
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Akademický článek
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Publikováno v:
Biomedicines, Vol 10, Iss 6, p 1364 (2022)
Mutations in the GJB2 gene account for approximately 20–50% of all non-syndromic hereditary deafness cases. The malformed organ of Corti (OC) was observed in different Cx26-null mouse models, which was mainly caused by the developmental arrest of p
Externí odkaz:
https://doaj.org/article/3171f44c970943a6bb197d1395fb5e7e
Autor:
Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Abstract Background Variants in the GJB2 gene encoding the gap junction protein connexin‐26 (Cx26) can cause autosomal recessive nonsyndromic hearing loss or a variety of phenotypically variable autosomal dominant disorders that effect skin and hea
Externí odkaz:
https://doaj.org/article/2d95d14baaac441f80eccc9b992857b3
Autor:
Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Kevin Esoh, Mario Jonas, Carmen de Kock, Lucas Amenga-Etego, Gordon A. Awandare, Ambroise Wonkam
Publikováno v:
Biology, Vol 11, Iss 3, p 476 (2022)
Gap junction protein beta 2 (GJB2) (connexin 26) variants are commonly implicated in non-syndromic hearing impairment (NSHI). In Ghana, the GJB2 variant p.(Arg143Trp) is the largest contributor to NSHI and has a reported prevalence of 25.9% in affect
Externí odkaz:
https://doaj.org/article/48277725a2b240b086e2f01f96c1e1dd