Zobrazeno 1 - 10
of 2 632
pro vyhledávání: '"GJB2"'
Autor:
Kaitian Chen, Hongyan Jiang
Publikováno v:
Clinical and Experimental Otorhinolaryngology, Vol 17, Iss 3, Pp 198-205 (2024)
Objectives. The aim of this study was to explore the functional consequences of two common variants, p.V37I and c.299-300delAT, in the hearing loss-associated gene GJB2. Methods. Connexin 26 expression and gap junctional permeability were studied in
Externí odkaz:
https://doaj.org/article/940c250c68544996abf3275eccb9df91
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)
Abstract Background Hereditary hearing loss is a rare hereditary condition that has a significant presence in consanguineous populations. Despite its prevalence, hearing loss is marked by substantial genetic diversity, which poses challenges for diag
Externí odkaz:
https://doaj.org/article/1adedb2d241c4ba9ada51a0ba58d2f50
Autor:
Hanyuan Liu, Xiao Li, Chenwei Zhang, Xiaopei Hao, Yongfang Cao, Yuliang Wang, Hao Zhuang, Na Yu, Tian Huang, Chuan Liu, Hengsong Cao, Zhengqing Lu, Jinhua Song, Li Liu, Hanjin Wang, Zhouxiao Li, Weiwei Tang
Publikováno v:
Advanced Science, Vol 11, Iss 39, Pp n/a-n/a (2024)
Abstract Despite substantial breakthroughs in the treatment of hepatocellular carcinoma (HCC) in recent years, many patients are diagnosed in the middle or late stages, denying them the option for surgical excision. Therefore, it is of great importan
Externí odkaz:
https://doaj.org/article/619b256dd0b447f2a73d992c6dd0fde2
Publikováno v:
Acta Biochimica et Biophysica Sinica, Vol 56, Pp 945-951 (2024)
Hearing loss constitutes one of the most prevalent conditions within the field of otolaryngology. Recent investigations have revealed that mutations in deafness-associated genes, including point mutations and variations in DNA sequences, can cause he
Externí odkaz:
https://doaj.org/article/899919621de74b84826eb01554750298
Publikováno v:
BMC Research Notes, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Objectives The crystal structure of the six protomers of gap junction protein beta 2 (GJB2) enables prediction of the effect(s) of an amino acid substitution, thereby facilitating investigation of molecular pathogenesis of missense variants
Externí odkaz:
https://doaj.org/article/f1290a6c499d4b849999321a6c86750c
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Mutations in the GJB2 gene, which encodes the protein connexin 26 and is involved in inner ear homeostasis, are identified in approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one of the p
Externí odkaz:
https://doaj.org/article/326290c3c54941beb850730f152f5e10
Autor:
María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J. del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio del Castillo
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small ( 90 dB SPL) that correlates with specific structural abnormalities in the cochlea. We show that Gjb2 e
Externí odkaz:
https://doaj.org/article/005dfd86e59541f7888dab03f10a4e7b
Autor:
Jeffrey Justin Margret, Chandru Jayasankaran, Pavithra Amritkumar, Hela Azaiez, C. R. Srikumari Srisailapathy
Publikováno v:
Advanced Genetics, Vol 5, Iss 2, Pp n/a-n/a (2024)
Abstract The co‐occurrence of sensorineural hearing loss and male infertility has been reported in several instances, suggesting potential shared genetic underpinnings. One such example is the contiguous gene deletion of CATSPER2 and STRC genes, pr
Externí odkaz:
https://doaj.org/article/ba7948f06d9b450aa3b2df100df05b13
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
Publikováno v:
Global Medical Genetics, Vol 10, Iss 03, Pp 190-193 (2023)
Joubert syndrome (JBTS) is a rare autosomal recessive or X-linked congenital brain malformation with strong genetic heterogeneity. Other neurological features of JBTS include hypotonia, ataxia, developmental delay, and cognitive impairment. Hearing l
Externí odkaz:
https://doaj.org/article/102d15a155434776ace802be2076f559