Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene. Gap junctions were first...
10 KB (1,179 words) - 05:31, 20 September 2024
Fedorova, S. A. (2018-05-01). "Marital Structure, Genetic Fitness, and the GJB2 Gene Mutations among Deaf People in Yakutia (Eastern Siberia, Russia)". Russian...
13 KB (1,443 words) - 23:36, 18 September 2024
This condition is caused by autosomal dominant missense mutations of the GJB2 gene, located in the long arm of chromosome 13. According to OMIM, 4 families...
8 KB (594 words) - 00:13, 14 October 2022
include: Vohwinkel syndrome may be caused by mutations in either loricrin or GJB2. This is an example of locus heterogeneity. List of keratins expressed in...
3 KB (161 words) - 16:22, 28 March 2023
sensorineural hearing loss is often associated. It has been associated with GJB2. It was characterized in 1929. Olmsted syndrome (also known as "Mutilating...
20 KB (2,032 words) - 21:27, 12 August 2024
amino acids of the plasma membrane. Meguid described a new mutation for the GJB2 gene ( a gene responsible for recessive non-syndromic deafness) with a deletion...
12 KB (1,230 words) - 01:10, 4 October 2022
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
90 KB (10,627 words) - 05:06, 28 September 2024
junction intercellular channel is formed by the conjunction of 2 connexons. See GJB2 for additional background information on connexins. GRCh38: Ensembl release...
4 KB (551 words) - 00:32, 20 October 2023
interphalangeal joints. It was characterized in 1967. It can be associated with GJB2. Camisa disease Bart syndrome Palmoplantar keratoderma Rapini, Ronald P.;...
2 KB (152 words) - 05:04, 5 May 2024
Keratitis-ichthyosis-deafness syndrome 602450 148210 Autosomal dominant GJB2 Neutral lipid storage disease with ichthyosis 275630 Autosomal recessive...
14 KB (962 words) - 18:47, 16 September 2024
Recently, it has been discovered that individuals with one copy of the GJB2 (Cx26) genetic mutation exhibit hearing that is more sensitive than average...
42 KB (4,374 words) - 18:08, 2 October 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
10 KB (760 words) - 22:20, 16 July 2024
impairment in developed countries is DFNB1, also known as Connexin 26 deafness or GJB2-related deafness. The most common syndromic forms of hearing impairment include...
73 KB (9,619 words) - 02:32, 28 September 2024
Congenital deafness Neurology, otorhinolaryngology, audiology Autosomal recessive GJB2 or GJB6 1/25 Cystic fibrosis Pulmonology, hepatology Autosomal recessive...
46 KB (4,083 words) - 15:18, 6 September 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
60 KB (6,439 words) - 21:50, 15 September 2024
hyperkeratosis. It is an autosomal dominant condition caused by a mutation to the GJB2 gene (the same gene affected by KID syndrome). An extremely rare disease...
5 KB (516 words) - 13:22, 29 July 2023
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
57 KB (6,738 words) - 10:11, 29 September 2024
protein Gap junction β (GJB) proteins GJB1, Cx32, gap junction beta-1 protein GJB2, Cx26, gap junction beta-2 protein GJB3, Cx31, gap junction beta-3 protein...
2 KB (269 words) - 03:02, 1 June 2023
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
38 KB (4,447 words) - 20:30, 21 August 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
21 KB (2,298 words) - 12:09, 9 August 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
51 KB (5,600 words) - 16:44, 18 September 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
45 KB (5,256 words) - 01:21, 30 September 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
17 KB (2,151 words) - 15:07, 1 October 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
20 KB (2,337 words) - 22:05, 16 September 2024
Mutations in the ACTG1, CABP2, CDH23, CLDN14, COCH, COL11A2, DFNA5, ESPN, EYA4, GJB2, GJB6, KCNQ4, MYO15A, MYO6, MYO7A, OTOF, PCDH15, POU3F4, SLC26A4, STRC, TECTA...
20 KB (1,854 words) - 04:56, 8 August 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
17 KB (2,070 words) - 15:11, 4 October 2024
orientation, height, beauty, or intelligence. Some tests, like those for GJB2 mutations linked to hereditary deafness, might lead to requests for PGD to...
111 KB (14,613 words) - 17:14, 20 September 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
5 KB (632 words) - 22:31, 16 July 2024
Cytoplasm: Gap junction Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin...
21 KB (2,355 words) - 13:40, 24 June 2024
already started in vitro experiment to repair a gene that causes deafness, GJB2, using CRISPR. In 2019, the Abramson Cancer Center of the University of Pennsylvania...
120 KB (12,403 words) - 23:49, 30 September 2024