Výsledky vyhledávání

GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss

Autor: Qinjun Wei, Guangqian Xing, Chunyu Liu, Yajie Lu, Xuli Qian, Jun Yao, Lingxin Wu, Xin Cao

Publikováno v: Journal of Medical Genetics

BackgroundA substantial amount of nuclear genes have been identified to be implicated in genetic hearing loss, while X-linked hearing loss is genetically heterogeneous and relatively infrequent.ObjectiveTo identify the causative gene mutation in a fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec7abad5094970b910407934364e3fbd
http://europepmc.org/articles/PMC5502311

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Akademický článek

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

Autor: Xuli Qian¹, Luyang Qin¹, Guangqian Xing², Xin Cao¹ caoxin@njmu.edu.cn

Publikováno v: Scientific Reports. 10/9/2015, p1-14. 14p.

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Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1

Autor: Guangqian Xing, Xin Cao, Luyang Qin, Xuli Qian

Publikováno v: Scientific Reports

Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder that has an autosomal recessive pattern of inheritance. The gene for WS, wolfram syndrome 1 gene (WFS1), is located on human chromosome 4p16.1 and encodes a transmembrane protei

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01060266a918674d507d6069069e5804
https://doi.org/10.1038/srep14731

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Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations

Autor: Qinjun Wei, Yajie Lu, Xin Cao, Xuli Qian, Guangqian Xing, Jingxiao Bao, Heng Zheng, Jun Yao

Publikováno v: Scientific Reports

A Chinese family was identified with clinical features of enlarged vestibular aqueduct syndrome (EVAS). The mutational analysis showed that the proband (III-2) had EVAS with bilateral sensorineural hearing loss and carried a rare compound heterozygou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a70319f41c5626086e7fd06aa3649eea
https://doi.org/10.1038/srep10831

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Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

Autor: Zhibin Chen, Qinjun Wei, Guangqian Xing, Hongmei Zhu, Yajie Lu, Xin Cao, Jun Yao, Xuli Qian

Publikováno v: Journal of Translational Medicine

Background Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the causative gene mutations involved. In this study, we combined targete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7023950670ac6c4eeccf8002d6887276
https://pubmed.ncbi.nlm.nih.gov/25388789

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Akademický článek

GPRASP2, a novel causative gene mutated n an X-linked recessive syndromic hearing loss.

Autor: Guangqian Xing, Jun Yao, Chunyu Liu, Qinjun Wei, Xuli Qian, Lingxin Wu, Yajie Lu, Xin Cao

Publikováno v: Journal of Medical Genetics; Jun2017, Vol. 54 Issue 6, p426-430, 5p

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