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■ Abbreviation / Long Form : GJB2 / gap junction protein beta 2

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Total Number of Papers: 41
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Abbreviation:   GJB2  (>> Co-occurring Abbreviation)
Long Form:   gap junction protein beta 2
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No. Year Title Co-occurring Abbreviation
2021 Long Non-Coding RNA CAR10 Facilitates Non-Small Cell Lung Cancer Cell Migration and Invasion by Modulating the miR-892a/GJB2 Pathway. CAR10, GEO, lnc, miRs, NSCLC
2020 Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana. HI, RFLP
2020 Establishment of an induced pluripotent stem cell (iPSC) line from a 7-year-old male patient with profound hearing loss carrying c.235delC in GJB2 gene. iPSC, PBMCs
2020 Mitochondrial mutations in non-syndromic hearing loss at UAE. HL
2020 Mulitmodal Corneal Imaging of Genetically Confirmed Keratitis-Ichthyosis-Deafness Syndrome. KID
2019 Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris. PCR-RFLP
2019 Characterization of GJB2 cis-regulatory elements in the DFNB1 locus. CTCF
2019 Gap Junction Protein Beta 2 Gene Variants and Non-Syndromic Hearing Impairment among Couples Referred For Prenatal Diagnosis in the Northeast of Iran. ---
2019 GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder. ANSD, ARNSHL
10  2018 A novel compound heterozygous mutation in the GJB2 gene is associated with non-syndromic hearing loss in a Chinese family. AR, Cx26, NSHL
11  2018 Mitochondrial tRNAIle A4317G mutation may be associated with hearing impairment in a Han Chinese family. mtDNA, PCR
12  2018 Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran. ARNSHL, HL
13  2017 Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis. ---
14  2017 Genome-scale analysis identifies GJB2 and ERO1LB as prognosis markers in patients with pancreatic cancer. DEGs, ECM, ERO1LB, GO, KEGG
15  2017 Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India. NSHL, TMC1
16  2017 Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss. ---
17  2017 Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss. UAE
18  2017 Simultaneous multi‑gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing‑impairment in Northwest China. HI, mtDNA12SrRNA, SLC26A4, SNPs
19  2017 Single nucleotide polymorphism rs2274084 of gap junction protein beta 2 gene among Epstein-Barr virus-associated tumors. Cx26, EBVaGC, EBVnGC, GC, NPC
20  2017 Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation. ---
21  2016 Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss. ARNSHL
22  2015 The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Cukurova Region. DNA, PCR
23  2014 Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness. CI, SPC
24  2014 [Hearing loss associated with GJB2 gene mutation]. HL, NSHL
25  2013 Cochlear implantation effect on deaf children with gap junction protein beta 2 gene mutation. ANOVA
26  2013 [Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome]. LOR
27  2012 Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome. PRPH2, RP
28  2011 [Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss in five Han Chinese pedigrees]. mtDNA
29  2010 High homogeneity in auditory outcome of pediatric CI-patients with mutations in Gap-Junction-Protein Beta2. LiP, MTP, PTA
30  2010 Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness. Cx26
31  2010 Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea. HI, SVs
32  2009 [Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients]. CAP, CI, MAIS, NSHI, SIR
33  2007 GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection. CMV, GJB6, PCR, SNHL
34  2007 High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria. BERA, HL, OAE
35  2005 GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling. GJB6
36  2005 In vitro and in vivo suppression of GJB2 expression by RNA interference. RNAi, siRNA
37  2005 [Mutations analysis in a pedigree with maternally inherited sensorineural hearing loss]. ---
38  2004 Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria. ---
39  2003 Connexin 26 mutations and nonsyndromic hearing impairment in northern Finland. Cx26, HI
40  2003 The effect of GJB2 allele variants on performance after cochlear implantation. ---
41  1998 Connexin-26 mutations in sporadic and inherited sensorineural deafness. ---