Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Modeling gap junction beta 2 gene-related deafness with human iPSC.

Human molecular genetics - 9 Jul 2021

Fukunaga Ichiro, Oe Yoko, Danzaki Keiko, Ohta Sayaka, Chen Cheng, Shirai Kyoko, Kawano Atsushi, Ikeda Katsuhisa, Kamiya Kazusaku

Abstract excerpt

There are >120 forms of non-syndromic deafness associated with identified genetic loci. In particular, mutation of the gap junction beta 2 gene (GJB2), which encodes connexin (CX)26 protein, is the most frequent cause of hereditary deafness worldwide. We previously described an induction method to develop functional CX26 gap junction-forming cells from mouse-induced pluripotent stem cells (iPSCs) and generated in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cochlea
Share to Connexin 26
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Gap Junctions

Share to Hearing Loss, Sensorineural

Share to Induced Pluripotent Stem Cells

Share to Models, Biological

Source

Identifiers

PMID: 33997905
DOI: 10.1093/hmg/ddab097

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Modeling gap junction beta 2 gene-related deafness with human iPSC.PMID 33997905Read ↗

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.Semantic proximity Read ↗

TGF-β inhibitor accelerates BMP4-induced cochlear gap junction formation during <i>in vitro</i> differentiation of embryonic stem cellsSemantic proximity Read ↗

Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives.Semantic proximity Read ↗

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.Semantic proximity Read ↗

Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX).Semantic proximity Read ↗

Regulatory mechanisms of connexin26.Semantic proximity Read ↗

The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.Semantic proximity Read ↗

The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in miceSemantic proximity Read ↗

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.Semantic proximity Read ↗

Derivation of non-integration induced pluripotent stem cells from fibroblast of severe deafness patients with GJB2 mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.