Results 31 to 40 of about 7,994 (153)
, 2022 Background: This study aimed to investigate the incidence of the hotspot mutations c.919-2A>G and c.2168A>G in SLC26A4 in the northwestern Chinese population.
Baicheng Xu +11 more
core +1 more source
Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4 -/- mouse
BMC Medical Genomics, 2023 Background The primary pathological alterations of Pendred syndrome are endolymphatic pH acidification and luminal enlargement of the inner ear. However, the molecular contributions of specific cell types remain poorly characterized.
Jin-Young Koh +8 more
doaj +1 more source
Genetic Screening of and in Korean Cochlear Implantees: Experience of Soree Ear Clinic [PDF]
Clinical and Experimental Otorhinolaryngology, 2012 ObjectivesGenetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major ...
Joong-Wook Shin +3 more
doaj +1 more source
, 2023 Additional file 4: Table S17: Differentially expressed genes in SC (Slc26a4+/+ vs. Slc26a4−/−).. Table S18: Differentially expressed genes in IMC (Slc26a4+/+ vs. Slc26a4−/−).. Table S19: Differentially expressed genes in SC (Slc26a4+/+ vs.
Brian Mostaert (6612392) +8 more
core +1 more source
Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin. [PDF]
PLoS ONE, 2011 Loss-of-function mutations of SLC26A4/pendrin are among the most prevalent causes of deafness. Deafness and vestibular dysfunction in the corresponding mouse model, Slc26a4(-/-), are associated with an enlargement and acidification of the membranous ...
Hyoung-Mi Kim, Philine Wangemann
doaj +1 more source
PLoS ONE, 2014 BackgroundNonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4. However, not all patients with NSEVA carry biallelic mutations in SLC26A4.
Jiandong Zhao +8 more
doaj +1 more source
The iodide transporter Slc26a7 impacts thyroid function more strongly than Slc26a4 in mice
Scientific Reports, 2022 SLC26A4 is a known iodide transporter, and is localized at the apical membrane of thyrocytes. Previously, we reported that SLC26A7 is also involved in iodide transport and that Slc26a7 is a novel causative gene for congenital hypothyroidism. However, its
Naoya Yamaguchi +14 more
doaj +1 more source
Clinical and Translational Discovery, Volume 6, Issue 5, October 2026.Current Management & Limitations: Traditional auditory devices lack genetic curative potential and yield variable, non‐physiological hearing outcomes. OTOF gene therapy has shown promising clinical outcomes with dual‐AAV therapy. GJB2 gene therapy remains an emerging approach with significant translational challenges. Advances in vector design and cell‐
Jiahui Zhao, Mengzhao Xun, Yu Sun
wiley +1 more source
Atp1a1, Atp6v1b1, Slc26a4, and SLC26A4 mRNA levels in inner ear tissues.
, 2013 Expression was determined by quantitative RT-PCR performed on total RNA. Total RNA was isolated from microdissected tissues obtained from Tg(−);Slc26a4Δ/+ (A–D) and Tg(+);Slc26a4Δ/Δ mice (E–H). Endolymphatic sacs (ES) were isolated from mice at age E17.5.
Nicolas Picard (259979) +12 more
core +1 more source
The HEAT Repeat Protein MROH1 Deficiency Leads to Reduced Circulating Thyroid Hormone Levels in Mice
Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.Global Mroh1 deficiency in male mice is associated with reduced circulating thyroid hormone level, late‐onset thyroid follicular remodelling, and lower whole‐thyroid abundance of Nkx2‐1, Foxe1, and Tg transcripts. These findings support a role for MROH1 in maintaining thyroid homeostasis and structural integrity.
Nami Ohuchi +12 more
wiley +1 more source