Cargando…
Insights into phenotypic differences between humans and mice with p.T721M and other C-terminal variants of the SLC26A4 gene
Recessive variants of the SLC26A4 gene are an important cause of hereditary hearing impairment. Several transgenic mice with different Slc26a4 variants have been generated. However, none have recapitulated the auditory phenotypes in humans. Of the SLC26A4 variants identified thus far, the p.T721M va...
Autores principales: | Hu, Chin-Ju, Lu, Ying-Chang, Tsai, Cheng-Yu, Chan, Yen-Hui, Lin, Pei-Hsuan, Lee, Yi-Shan, Yu, I.-Shing, Lin, Shu-Wha, Liu, Tien-Chen, Hsu, Chuan-Jen, Yang, Ting-Hua, Cheng, Yen-Fu, Wu, Chen-Chi |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8545921/ https://www.ncbi.nlm.nih.gov/pubmed/34697379 http://dx.doi.org/10.1038/s41598-021-00448-7 |
Ejemplares similares
-
Toward the Pathogenicity of the SLC26A4 p.C565Y Variant Using a Genetically Driven Mouse Model
por: Hu, Chin-Ju, et al.
Publicado: (2021) -
P721: VALIDATION OF THE MOLECULAR INTERNATIONAL PROGNOSTIC SCORING SYSTEM IN PATIENTS WITH MYELODYSPLASTIC SYNDROMES DEFINED BY INTERNATIONAL CONSENSUS CLASSIFICATION
por: Hsuan Lee, Wan, et al.
Publicado: (2023) -
PT721. The effect of methamphetamine in the hippocampus of cynomolgus monkeys according to age
por: Bang, Sol Hee, et al.
Publicado: (2016) -
Differences in the Pathogenicity of the p.H723R Mutation of the Common Deafness-Associated SLC26A4 Gene in Humans and Mice
por: Lu, Ying-Chang, et al.
Publicado: (2013) -
Establishment of a Knock-In Mouse Model with the SLC26A4 c.919-2A>G Mutation and Characterization of Its Pathology
por: Lu, Ying-Chang, et al.
Publicado: (2011)