Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SCN4A: 2023C>G; Arg675Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121908556

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs121908556

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.

Frontiers In Pharmacology

Nicole, Sophie S; Lory, Philippe P

Publication Date: 2021

Variant appearance in text: Nav1.4: Arg675Gly

PubMed Link: 34671263

Variant Present in the following documents:

• Main text
• fphar-12-751095.pdf

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Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.

The Journal Of International Medical Research

Tan, XinYu X; Hu, SongNian S; Xie, Zongyu Z; Mei, Hailiang H; Liu, Yang Y; Yin, Liang L; Shi, Peng P; Chen, Qiming Q; Sang, Daoqian D

Publication Date: 2020-09

Variant appearance in text: SCN4A: R675G

PubMed Link: 32962503

Variant Present in the following documents:

• Main text
• 10.1177_0300060520953643.pdf

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Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.

Frontiers In Neurology

Maggi, Lorenzo L; Brugnoni, Raffaella R; Canioni, Eleonora E; Tonin, Paola P; Saletti, Veronica V; Sola, Patrizia P; Piccinelli, Stefano Cotti SC; Colleoni, Lara L; Ferrigno, Paola P; Pini, Antonella A; Masson, Riccardo R; Manganelli, Fiore F; Lietti, Daniele D; Vercelli, Liliana L; Ricci, Giulia G; Bruno, Claudio C; Tasca, Giorgio G; Pizzuti, Antonio A; Padovani, Alessandro A; Fusco, Carlo C; Pegoraro, Elena E; Ruggiero, Lucia L; Ravaglia, Sabrina S; Siciliano, Gabriele G; Morandi, Lucia L; Dubbioso, Raffaele R; Mongini, Tiziana T; Filosto, Massimiliano M; Tramacere, Irene I; Mantegazza, Renato R; Bernasconi, Pia P

Publication Date: 2020

Variant appearance in text: SCN4A: 2023C>G; rs121908556

PubMed Link: 32849172

Variant Present in the following documents:

• Main text
• fneur-11-00646.pdf

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SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.

Frontiers In Neurology

Shi, Jiejing J; Qu, Qianqian Q; Liu, Haiyan H; Cui, Wenhao W; Zhang, Yan Y; Lv, Haidong H; Lu, Zuneng Z

Publication Date: 2019

Variant appearance in text: SCN4A: R675G

PubMed Link: 31708864

Variant Present in the following documents:

• Main text
• fneur-10-01138.pdf

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Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel.

Frontiers In Pharmacology

Myshkin, Mikhail Yu MY; Männikkö, Roope R; Krumkacheva, Olesya A OA; Kulbatskii, Dmitrii S DS; Chugunov, Anton O AO; Berkut, Antonina A AA; Paramonov, Alexander S AS; Shulepko, Mikhail A MA; Fedin, Matvey V MV; Hanna, Michael G MG; Kullmann, Dimitri M DM; Bagryanskaya, Elena G EG; Arseniev, Alexander S AS; Kirpichnikov, Mikhail P MP; Lyukmanova, Ekaterina N EN; Vassilevski, Alexander A AA; Shenkarev, Zakhar O ZO

Publication Date: 2019

Variant appearance in text: SCN4A: R675G

PubMed Link: 31555136

Variant Present in the following documents:

• Main text
• fphar-10-00953.pdf

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A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.

Scientific Reports

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Mercier, Aurélie A; Burger, Bettina B; Keller, Dagmar I DI; Chahine, Mohamed M

Publication Date: 2018-09-14

Variant appearance in text: Nav1.4: R675G

PubMed Link: 30218094

Variant Present in the following documents:

• 41598_2018_31772_MOESM1_ESM.pdf

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Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V.

Frontiers In Neurology

Fu, Chao C; Wang, Zhenyu Z; Wang, Libo L; Li, Jia J; Sang, Qiuling Q; Chen, Jiajun J; Qi, Ling L; Jin, Hui H; Liu, Xiaoyang X

Publication Date: 2018

Variant appearance in text: SCN4A: R675G

PubMed Link: 29930533

Variant Present in the following documents:

• Main text
• fneur-09-00430.pdf

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Structural basis for gating pore current in periodic paralysis.

Nature

Jiang, Daohua D; Gamal El-Din, Tamer M TM; Ing, Christopher C; Lu, Peilong P; Pomès, Régis R; Zheng, Ning N; Catterall, William A WA

Publication Date: 2018-05

Variant appearance in text: Nav1.4: R675G

PubMed Link: 29769724

Variant Present in the following documents:

• Main text
• nihms-958547.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs121908556

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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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: SCN4A: 2023C>G; Arg675Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: HYPP: R675G

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Maggi, Lorenzo L; Brugnoni, Raffaella R; Canioni, Eleonora E; Maccagnano, Elio E; Bernasconi, Pia P; Morandi, Lucia L

Publication Date: 2015-12

Variant appearance in text: SCN4A: R675G

PubMed Link: 27199537

Variant Present in the following documents:

• Main text
• 1128-2460-34-109.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HYPP: R675G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN4A: R675G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Biophysics, pathophysiology, and pharmacology of ion channel gating pores.

Frontiers In Pharmacology

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Chahine, Mohamed M

Publication Date: 2014

Variant appearance in text: SCN4A: R675G

PubMed Link: 24772081

Variant Present in the following documents:

• Main text
• fphar-05-00053.pdf

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Pathophysiological role of omega pore current in channelopathies.

Frontiers In Pharmacology

Jurkat-Rott, Karin K; Groome, James J; Lehmann-Horn, Frank F

Publication Date: 2012

Variant appearance in text: SCN4A: R675G

PubMed Link: 22701429

Variant Present in the following documents:

• Main text

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Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.

Neurology

Matthews, E E; Portaro, S S; Ke, Q Q; Sud, R R; Haworth, A A; Davis, M B MB; Griggs, R C RC; Hanna, M G MG

Publication Date: 2011-11-29

Variant appearance in text: SCN4A: R675G

PubMed Link: 22094484

Variant Present in the following documents:

• Main text

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Skeletal muscle na channel disorders.

Frontiers In Pharmacology

Simkin, Dina D; Bendahhou, Saïd S

Publication Date: 2011

Variant appearance in text: Nav1.4: R675G

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

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A practical approach to genetic hypokalemia.

Electrolyte & Blood Pressure : E & Bp

Lin, Shih-Hua SH; Yang, Sung-Sen SS; Chau, Tom T

Publication Date: 2010-06

Variant appearance in text: SCN4A: R675G

PubMed Link: 21468196

Variant Present in the following documents:

• Main text
• ebp-8-38.pdf

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Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

The Journal Of Physiology

Matthews, E E; Hanna, M G MG

Publication Date: 2010-06-01

Variant appearance in text: SCN4A: R675G

PubMed Link: 20123788

Variant Present in the following documents:

• Main text

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