Discover Community Create You

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

Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.

International journal of molecular sciences - 10 Mar 2021

Hu Chin-Ju, Lu Ying-Chang, Yang Ting-Hua, Chan Yen-Hui, Tsai Cheng-Yu, Yu I-Shing, Lin Shu-Wha, Liu Tien-Chen, Cheng Yen-Fu, Wu Chen-Chi, Hsu Chuan-Jen

Abstract excerpt

Recessive variants of the SLC26A4 gene are globally a common cause of hearing impairment. In the past, cell lines and transgenic mice were widely used to investigate the pathogenicity associated with SLC26A4 variants. However, discrepancies in pathogenicity between humans and cell lines or transgenic mice were documented for some SLC26A4 variants. For instance, the p.C565Y variant, which was reported to be...

Read the complete abstract on PubMed

Topics

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

Share to Disease Models, Animal
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Mice, Inbred C57BL

Share to Mice, Knockout

Share to Mice, Transgenic

Share to Sulfate Transporters

Share to Vestibular Aqueduct

Source

Open in PubMed Open full text

Identifiers

PMID: 33801843
DOI: 10.3390/ijms22062789
PMCID: PMC8001573

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model.PMID 33801843Read ↗

Toward the pathogenicity of the <i>SLC26A4</i> p.C565Y variant using a genetically driven mouse modelSemantic proximity Read ↗

Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene.Semantic proximity Read ↗

Differences in the pathogenicity of the p.H723R mutation of the common deafness-associated SLC26A4 gene in humans and mice.Semantic proximity Read ↗

Establishment of a knock-in mouse model with the SLC26A4 c.919-2A>G mutation and characterization of its pathology.Semantic proximity Read ↗

Allele-specific effects of distinct SLC26A4 variants on cochlear function and transcriptomic programs in compound heterozygous models.Semantic proximity Read ↗

Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.Semantic proximity Read ↗

Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in an animal modelSemantic proximity Read ↗

Cellular mechanisms of connexin-based inherited diseases.Semantic proximity Read ↗

Connexin Mutations and Hereditary Diseases.Semantic proximity Read ↗

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

Genetic background influences the extent and severity of cilia-related congenital anomalies in Ift56/Ttc26 mutant mice.Semantic proximity Read ↗

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.Semantic proximity Read ↗

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