Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: KCNQ1: I145I; rs1800170

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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: KCNQ1: 435C>T; I145I; rs1800170

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: KCNQ1: 435C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: KCNQ1: 435C>T; I145I; rs1800170

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use.

Scientific Reports

Nagasawa, Sayaka S; Saitoh, Hisako H; Kasahara, Shiori S; Chiba, Fumiko F; Torimitsu, Suguru S; Abe, Hiroko H; Yajima, Daisuke D; Iwase, Hirotaro H

Publication Date: 2018-05-31

Variant appearance in text: LQT1: I145I

PubMed Link: 29855564

Variant Present in the following documents:

• Main text
• 41598_2018_Article_26723.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNQ1: 435C>T; Ile145=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Heart Asia

Chen, Lin Y LY; Goh, June M JM; Wong, Raymond C RC; Hsu, Li-Fern LF; Foo, David D; Benditt, David G DG; Ling, Lieng H LH; Heng, Chew K CK

Publication Date: 2010

Variant appearance in text: KCNQ1: I145I; rs1800170

PubMed Link: 27325960

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: rs1800170

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal

Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM

Publication Date: 2013

Variant appearance in text: KCNQ1: I145I; rs1800170

PubMed Link: 23710137

Variant Present in the following documents:

• Main text
• TSWJ2013-373454.pdf

View BVdb publication page

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Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Zhang, Yu Y; Chang, Bingxi B; Hu, Songnian S; Wang, Duenmei D; Fang, Quan Q; Huang, Xianyong X; Zeng, Qiang Q; Qi, Ming M

Publication Date: 2008-04

Variant appearance in text: KCNQ1: I145I

PubMed Link: 18426444

Variant Present in the following documents:

• Main text

View BVdb publication page

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