Publications:

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Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: rs2236058

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: rs2236058

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: rs2236058

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mitochondrial Dynamics Related Genes -MFN1, MFN2 and DRP1 Polymorphisms are Associated with Risk of Lung Cancer.

Pharmacogenomics And Personalized Medicine

Liang, Xiaohua X; Dang, Shengqiang S

Publication Date: 2021

Variant appearance in text: rs2236058

PubMed Link: 34163214

Variant Present in the following documents:

• Main text
• pgpm-14-695.pdf

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Hyperplasia suppressor gene polymorphisms and essential hypertension: a case-control association study in a central Han Chinese population.

International Journal Of Clinical And Experimental Pathology

Yan, Shan S; Lian, Xiao-Qing XQ; Wang, Si-Bo SB; Wang, Hao H; Wang, Lian-Sheng LS

Publication Date: 2020

Variant appearance in text: rs2236058

PubMed Link: 32782719

Variant Present in the following documents:

• Main text

View BVdb publication page

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FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Brain And Behavior

Zhou, Binbin B; Wang, Huan H; Cai, Yu Y; Wen, Han H; Wang, Lulu L; Zhu, Min M; Chen, Yunqing Y; Yu, Yanyan Y; Lu, Xi X; Zhou, Meihong M; Fang, Pu P; Li, Xiaobing X; Hong, Daojun D

Publication Date: 2020-06

Variant appearance in text: MFN2: 1160+201C>G; rs2236058

PubMed Link: 32307925

Variant Present in the following documents:

• BRB3-10-e01625-s001.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: MFN2: 1160+201C>G

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Single Nucleotide Polymorphisms (SNPs) Genotyping Reveals that Mfn2 Polymorphisms are Associated with Thoracic Aortic Dissection in Han Chinese Population.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Han, Jing J; Liu, Jielin J; Zhou, Qi Q; Nie, Shaoping S; Liu, Jinghua J; Wen, Shaojun S

Publication Date: 2019-04-03

Variant appearance in text: rs2236058

PubMed Link: 30940795

Variant Present in the following documents:

• Main text
• medscimonit-25-2419.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MFN2: 1160+201C>G; rs2236058

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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The Association of Mitofusion-2 Gene Polymorphisms with Susceptibility of Essential Hypertension in Northern Han Chinese Population.

International Journal Of Medical Sciences

Li, Mei M; Zhang, Bei B; Li, Chuang C; Liu, Jielin J; Liu, Ya Y; Sun, Dongdong D; Ma, Hanying H; Wen, Shaojun S

Publication Date: 2016

Variant appearance in text: rs2236058

PubMed Link: 26816493

Variant Present in the following documents:

• Main text
• ijmsv13p0039.pdf

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Association of polymorphisms in mitofusin-2 gene with type 2 diabetes in Han Chinese.

Journal Of Biomedicine & Biotechnology

Li, Pengtao P; Zhu, Shuying S; Wu, Xiaopan X; Zhu, Xilin X; Li, Jingyun J; Pan, Liping L; Xin, Zhenhui Z; Niu, Fenghe F; Wu, Jia J; Liu, Ying Y

Publication Date: 2012

Variant appearance in text: rs2236058

PubMed Link: 22778543

Variant Present in the following documents:

• Main text
• JBB2012-205752.pdf

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