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

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Total Number of Papers: 32
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Abbreviation:   GJB2  (>> Co-occurring Abbreviation)
Long Form:   gap junction beta-2
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No. Year Title Co-occurring Abbreviation
2021 Activin/Nodal/TGF-β Pathway Inhibitor Accelerates BMP4-Induced Cochlear Gap Junction Formation During in vitro Differentiation of Embryonic Stem Cells. BMP4, Cx26, iPSCs
2021 Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2. iPSC, PBMCs
2021 Molecular alteration in the Gap Junction Beta 2 (GJB2) gene associated with non-syndromic sensorineural hearing impairment. NSRD
2021 Reprogramming of human peripheral blood mononuclear cell (PBMC) from a patient suffering from hearing loss into iPSC line (SDQLCHi035-A) maintaining compound heterozygous variations in GJB2 gene. ARNSHL, iPSC, PBMC
2020 Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation. iPSC, PBMCs
2020 Generation of two induced pluripotent stem cell lines from PBMCs of siblings carrying c.235delC mutation in the GJB2 gene associated with sensorineural hearing loss. ---
2019 Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region. 12SrRNA, mtDNA 12SrRNA, NSHL, SLC26A4
2018 Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort. NSHL
2017 Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran. ARNSHL
10  2017 Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia. KID
11  2016 Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. ARNSHL, PAGE, PCR, STR
12  2016 Molecular study of patients with auditory neuropathy. DIAPH3, OTOF, PJVK
13  2016 The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants. HHL, NSHL
14  2016 The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria. NSHI
15  2015 GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss. ---
16  2014 Bioinformatic Analysis of GJB2 Gene Missense Mutations. HGMD, LOVD
17  2014 Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family. NSHL
18  2014 Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss. ARNHL, EVA
19  2014 Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26. Cx26, Cxs
20  2013 Does congenital cytomegalovirus infection lead to hearing loss by inducing mutation of the GJB2 gene? CMV, SNHL
21  2012 Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies. SNHL
22  2011 Functional evaluation of GJB2 variants in nonsyndromic hearing loss. Cx26, GJs, HL
23  2010 Sensorineural hearing loss in a pediatric population: association of congenital cytomegalovirus infection with intracranial abnormalities. CMV, MRI, mtDNA, SNHL
24  2009 Single nucleotide polymorphisms and haplotypes analysis of DFNB1 locus in Chinese sporadic hearing impairment population. ARNSHI, GJB6, SNPs
25  2008 Genetic evaluation of American minority pediatric cochlear implant recipients. ---
26  2008 Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. ---
27  2007 Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing? Cx26, SNHL
28  2007 [Prenatal diagnosis for hereditary deaf families assisted by genetic testing]. mtDNA
29  2004 Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. ARNSHI
30  2004 Spectrum and frequencies of mutations in the GJB2 (Cx26) gene among 156 Czech patients with pre-lingual deafness. ---
31  2002 A novel connexin 26 compound heterozygous mutation results in deafness. Cx26, NSHL
32  2001 Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. ASO, Cx26, NSRD