Hearing genes screening of 5120 newborns in Zhejiang China, 2018-2019

Figshare2020-12-04 更新2026-04-28 收录

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https://figshare.com/articles/dataset/Hearing_genes_screening_of_5120_newborns_in_Zhejiang_China_2018-2019/13326638 数据链接链接失效反馈

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The conclusion expanded hearing loss genes screening of 5120 newborns in Zhejiang China.

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2020-12-04

Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing. Ranum et al.

听觉系统单细胞组学

遗传性耳聋分子病理

This archive contains the scRNA-Seq counts matrix and experimental metadata from "Insights into the Biology of Hearing and Deafness Revealed by Single-Cell RNA Sequencing" by Ranum et al. A complete a

Mendeley Data2019-01-01 更新50

Pou3f4-Mediated Regulation of Ephrin-B2 Controls Temporal Bone Development in the Mouse

颞骨发育遗传学

遗传性耳聋分子病理

The temporal bone encases conductive and sensorineural elements of the ear. Mutations of POU3F4 are associated with unique temporal bone abnormalities and X-linked mixed deafness (DFNX2/DFN3). However

NIAID Data Ecosystem40

Table_2_Accelerated Age-Related Degradation of the Tectorial Membrane in the Ceacam16βgal/βgal Null Mutant Mouse, a Model for Late-Onset Human Hereditary Deafness DFNB113.DOCX

遗传性耳聋分子病理

听觉功能动物模型

CEACAM16 is a non-collagenous protein of the tectorial membrane, an extracellular structure of the cochlea essential for normal hearing. Dominant and recessive mutations in CEACAM16 have been reported

NIAID Data Ecosystem30

Expression pattern of the mouse ortholog of the Pendred’s syndrome gene (Pds) suggests a key role for pendrin in the inner ear

耳发育分子机制

遗传性耳聋分子病理

Pendred’s syndrome is an autosomal-recessive disorder characterized by deafness and goiter. After our recent identification of the human gene mutated in Pendred’s syndrome (PDS), we sought to investig

PubMed Central1999-08-17 更新40

Table_1_A Model of Waardenburg Syndrome Using Patient-Derived iPSCs With a SOX10 Mutation Displays Compromised Maturation and Function of the Neural Crest That Involves Inner Ear Development.DOCX

遗传性耳聋分子病理

细胞疾病模型

Waardenburg syndrome (WS) is an autosomal dominant inherited disorder that is characterized by sensorineural hearing loss and abnormal pigmentation. SOX10 is one of its main pathogenicity genes. The g

NIAID Data Ecosystem30

Hearing genes screening of 5120 newborns in Zhejiang China, 2018-2019

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