Missense Variant of Endoplasmic Reticulum Region of <i>WFS1</i> Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Li, Jinying; Xu, Hongen; Sun, Jianfeng; Tian, Yongan; Liu, Danhua; Qin, Yaping; Liu, Huanfei; Li, Ruijun; Neng, Lingling; Deng, Xiaohua; Xue, Binbin; Yu, Changyun; Tang, Wenxue

Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.

Li, Jinying; Xu, Hongen; Sun, Jianfeng; Tian, Yongan; Liu, Danhua; Qin, Yaping; Liu, Huanfei; Li, Ruijun; Neng, Lingling; Deng, Xiaohua; Xue, Binbin; Yu, Changyun; Tang, Wenxue.

Afiliação

Li J; Department of Otolaryngology Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Jianshedong Road No. 1, Zhengzhou 450052, China.
Xu H; Academy of Medical Science, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.
Sun J; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.
Tian Y; The Second Affiliated Hospital of Zhengzhou University, Jingba Road No. 2, Zhengzhou 450014, China.
Liu D; Department of Bioinformatics, Technical University of Munich, Wissenschaftszentrum Weihenstephan, 85354 Freising, Germany.
Qin Y; BGI College, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.
Liu H; Henan Institute of Medical and Pharmaceutical Sciences, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.
Li R; The Second Affiliated Hospital of Zhengzhou University, Jingba Road No. 2, Zhengzhou 450014, China.
Neng L; The Second Affiliated Hospital of Zhengzhou University, Jingba Road No. 2, Zhengzhou 450014, China.
Deng X; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.
Xue B; Precision Medicine Center, Academy of Medical Science, Zhengzhou University, Daxuebei Road No. 40, Zhengzhou 450052, China.
Yu C; Department of Otolaryngology Head and Neck Surgery, The First Affiliated Hospital of Zhengzhou University, Jianshedong Road No. 1, Zhengzhou 450052, China.
Tang W; The Third Affiliated Hospital of Xinxiang Medical University, Hualan Road, No. 83, Xinxiang 453000, China.

Biomed Res Int ; 2021: 6624744, 2021.

Article em En | MEDLINE | ID: mdl-34258273

Assuntos

Retículo Endoplasmático/metabolismo; Genes Dominantes; Perda Auditiva/genética; Proteínas de Membrana/genética; Mutação de Sentido Incorreto/genética; Adulto; Idoso de 80 Anos ou mais; Sequência de Bases; Feminino; Humanos; Masculino; Pessoa de Meia-Idade; Modelos Moleculares; Linhagem; Fenótipo

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Retículo Endoplasmático / Genes Dominantes / Perda Auditiva / Proteínas de Membrana Tipo de estudo: Etiology_studies Limite: Adult / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Biomed Res Int Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos

Texto completo

Adicionar na Minha BVS

Imprimir

XML

PubMed Links

Buscar no Google