Expression pattern of Connexin 26 and Connexin 30 in mature cochlea of the monkey

2019 ◽  
Vol 518 (2) ◽  
pp. 357-361 ◽  
Author(s):  
Xuewen Wu ◽  
Wenxue Tang ◽  
Emil C. Muly ◽  
Li Zhang ◽  
Xi Lin
Keyword(s):  
Expression Pattern ◽  
Connexin 26 ◽  
Connexin 30

scholarly journals Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear

2008 ◽  
Vol 105 (48) ◽  
pp. 18776-18781 ◽  
Author(s):  
S. Ortolano ◽  
G. Di Pasquale ◽  
G. Crispino ◽  
F. Anselmi ◽  
F. Mammano ◽  
...  
Keyword(s):  
Inner Ear ◽  
Coordinated Control ◽  
Connexin 26 ◽  
Functional Level ◽  
Connexin 30

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program

2006 ◽  
Vol 70 (3) ◽  
pp. 435-444 ◽  
Author(s):  
Evan Jon Propst ◽  
Tracy L Stockley ◽  
Karen A Gordon ◽  
Robert V Harrison ◽  
Blake Croll Papsin
Keyword(s):  
Cochlear Implant ◽  
Connexin 26 ◽  
Connexin 30

Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

2012 ◽  
Vol 127 (1) ◽  
pp. 33-37 ◽  
Author(s):  
Ö Tarkan ◽  
P Sari ◽  
O Demirhan ◽  
M Kiroğlu ◽  
Ü Tuncer ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cochlear Implantation ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Paediatric Patients ◽  
Study Population ◽  
Connexin 30 ◽  
Syndromic Hearing Loss ◽  
35Delg Mutation

AbstractObjective:Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of theGJB2gene and the del(GJB6-D13S1830) mutation of theGJB6gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.Materials and method:We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations.Results:Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.Conclusion:The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population.

scholarly journals Permeation Pathway of Homomeric Connexin 26 and Connexin 30 Channels Investigated by Molecular Dynamics

2012 ◽  
Vol 29 (5) ◽  
pp. 985-998 ◽  
Author(s):  
Francesco Zonta ◽  
Guido Polles ◽  
Giuseppe Zanotti ◽  
Fabio Mammano
Keyword(s):  
Molecular Dynamics ◽  
Connexin 26 ◽  
Connexin 30

Longitudinal Phenotypic Analysis in Patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) Mutations

2004 ◽  
Vol 113 (7) ◽  
pp. 587-593 ◽  
Author(s):  
Christel Stinckens ◽  
Hannie Kremer ◽  
Erwin van Wijk ◽  
Lieve Standaert ◽  
Lies H. Hoefsloot ◽  
...  
Keyword(s):  
Connexin 26 ◽  
Phenotypic Analysis ◽  
Connexin 30

scholarly journals Dynamic Spatiotemporal Expression Changes in Connexins of the Developing Primate’s Cochlea

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 1082
Author(s):  
Makoto Hosoya ◽  
Masato Fujioka ◽  
Ayako Y. Murayama ◽  
Kaoru Ogawa ◽  
Hideyuki Okano ◽  
...  
Keyword(s):  
Gap Junction ◽  
Human Fetus ◽  
Expression Patterns ◽  
Common Marmoset ◽  
Connexin 26 ◽  
Gene Therapies ◽  
Hearing Ability ◽  
Spatiotemporal Expression ◽  
Connexin 30 ◽  
Junction Proteins

Connexins are gap junction components that are essential for acquiring normal hearing ability. Up to 50% of congenital, autosomal-recessive, non-syndromic deafness can be attributed to variants in GJB2, the gene that encodes connexin 26. Gene therapies modifying the expression of connexins are a feasible treatment option for some patients with genetic hearing losses. However, the expression patterns of these proteins in the human fetus are not fully understood due to ethical concerns. Recently, the common marmoset was used as a primate animal model for the human fetus. In this study, we examined the expression patterns of connexin 26 and connexin 30 in the developing cochlea of this primate. Primate-specific spatiotemporal expression changes were revealed, which suggest the existence of primate-specific control of connexin expression patterns and specific functions of these gap junction proteins. Moreover, our results indicate that treatments for connexin-related hearing loss established in rodent models may not be appropriate for human patients, underscoring the importance of testing these treatments in primate models before applying them in human clinical trials.

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