Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
K Honda, AJ Griffith - Human genetics, 2022 - Springer
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
[HTML][HTML] Induced pluripotent stem cells, a stepping stone to in vitro human models of hearing loss
MB Durán-Alonso, H Petković - Cells, 2022 - mdpi.com
Hearing loss is the most prevalent sensorineural impairment in humans. Yet despite very
active research, no effective therapy other than the cochlear implant has reached the clinic …
active research, no effective therapy other than the cochlear implant has reached the clinic …
[HTML][HTML] Molecular Features of SLC26A4 Common Variant p. L117F
A Matulevičius, E Bernardinelli, Z Brownstein… - Journal of Clinical …, 2022 - mdpi.com
The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …
[HTML][HTML] Epidemiology and Genetics of Vestibular Disorders
Vestibular disorders (VD) include a heterogeneous set of neuro-otological conditions.
Peripheral and central VD such as vestibular migraine (VM) or Menière's disease (MD) are …
Peripheral and central VD such as vestibular migraine (VM) or Menière's disease (MD) are …
[HTML][HTML] Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene
CJ Hu, YC Lu, CY Tsai, YH Chan, PH Lin, YS Lee… - Scientific reports, 2021 - nature.com
Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing
impairment. Several transgenic mice with different Slc26a4 variants have been generated …
impairment. Several transgenic mice with different Slc26a4 variants have been generated …
[引用][C] Induced Pluripotent Stem Cells, a Stepping Stone to In Vitro Human Models of Hearing Loss. Cells 2022, 11, 3331
MB Durán-Alonso, H Petkovic - 2022 - europepmc.org
Hearing loss is the most prevalent sensorineural impairment in humans. Yet despite very
active research, no effective therapy other than the cochlear implant has reached the clinic …
active research, no effective therapy other than the cochlear implant has reached the clinic …