有缺陷的α-耳盖蛋白可能与家族性梅尼埃病的盖膜有关。 - Suppr

Defective α-tectorin may involve tectorial membrane in familial Meniere disease.

作者信息

Roman-Naranjo Pablo, Parra-Perez Alberto M, Escalera-Balsera Alba, Soto-Varela Andres, Gallego-Martinez Alvaro, Aran Ismael, Perez-Fernandez Nicolas, Bächinger David, Eckhard Andreas H, Gonzalez-Aguado Rocio, Frejo Lidia, Lopez-Escamez Jose A

机构信息

Otology & Neurotology Group CTS 495, Department of Genomic Medicine, GENYO, Centre for Genomics and Oncological Research: Pfizer/University of Granada/Andalusian Regional Government, Granada, Spain.

Sensorineural Pathology Programme, Centro de Investigación Biomédica en Red en Enfermedades Raras, Madrid, Spain.

出版信息

Clin Transl Med. 2022 Jun;12(6):e829. doi: 10.1002/ctm2.829.

DOI:10.1002/ctm2.829

PMID:35653455

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9162437/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/910d/9162437/9bc36efba2d6/CTM2-12-e829-g002.jpg

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Defective α-tectorin may involve tectorial membrane in familial Meniere disease.有缺陷的α-耳盖蛋白可能与家族性梅尼埃病的盖膜有关。

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Thyroid hormone-deficient period prior to the onset of hearing is associated with reduced levels of beta-tectorin protein in the tectorial membrane: implication for hearing loss.听力开始前的甲状腺激素缺乏期与盖膜中β-耳蝸蛋白水平降低有关：对听力损失的影响。

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Molecular organization and fine structure of the human tectorial membrane: is it replenished?人耳覆膜的分子组织与精细结构：它会得到补充吗？

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Tectorin-beta (Tectb) maps to mouse chromosome 19.β-端粒蛋白（Tectb）定位于小鼠第19号染色体。

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Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.家族性梅尼埃病中涉及 MYO7A 及其他编码毛细胞静纤毛连接蛋白的稀有编码变异。

Hear Res. 2021 Sep 15;409:108329. doi: 10.1016/j.heares.2021.108329. Epub 2021 Aug 2.

Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease.家族性梅尼埃病的测序研究和基因表达谱分析的系统评价。

Genes (Basel). 2020 Nov 27;11(12):1414. doi: 10.3390/genes11121414.

Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.OTOG 基因中罕见变异在家族性梅尼埃病中的负担。

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The release of surface-anchored α-tectorin, an apical extracellular matrix protein, mediates tectorial membrane organization.表面锚定的α-听小骨蛋白的释放介导了镫骨膜的组织。

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Hum Genet. 1999 Sep;105(3):211-6. doi: 10.1007/s004390051091.

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.与常染色体显性非综合征性听力损失相关的α-耳畸蛋白类锌黏附素结构域突变。

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Tectorin mRNA expression is spatially and temporally restricted during mouse inner ear development.在小鼠内耳发育过程中，耳盖蛋白mRNA的表达在空间和时间上受到限制。

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Defective α-tectorin may involve tectorial membrane in familial Meniere disease.

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