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: 3478A>G; Ile1160Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.

Journal Of Neuromuscular Diseases

Desaphy, Jean-François JF; Altamura, Concetta C; Vicart, Savine S; Fontaine, Bertrand B

Publication Date: 2021

Variant appearance in text: SCN4A: Ile1160Val

PubMed Link: 33325393

Variant Present in the following documents:

• Main text
• jnd-8-jnd200582.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SCN4A: 3478A>G; Ile1160Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2

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Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis.

Chinese Medical Journal

Xu, Yang-Qi YQ; Liu, Xiao-Li XL; Huang, Xiao-Jun XJ; Tian, Wo-Tu WT; Tang, Hui-Dong HD; Cao, Li L

Publication Date: 2018-02-20

Variant appearance in text: SCN4A: Ile1160Val

PubMed Link: 29451154

Variant Present in the following documents:

• CMJ-131-477.pdf

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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: I1160V

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.

Neurology

Desaphy, Jean-François JF; Carbonara, Roberta R; D'Amico, Adele A; Modoni, Anna A; Roussel, Julien J; Imbrici, Paola P; Pagliarani, Serena S; Lucchiari, Sabrina S; Lo Monaco, Mauro M; Conte Camerino, Diana D

Publication Date: 2016-05-31

Variant appearance in text: Nav1.4: I1160V

PubMed Link: 27164696

Variant Present in the following documents:

• Main text
• NEUROLOGY2015695692.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: I1160V

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: I1160V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.

Journal Of Neurology

Charles, G G; Zheng, C C; Lehmann-Horn, F F; Jurkat-Rott, K K; Levitt, J J

Publication Date: 2013-10

Variant appearance in text: Nav1.4: I1160V

PubMed Link: 23884711

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: I1160V

PubMed Link: 22016737

Variant Present in the following documents:

• Main text
• fphar-02-00063.pdf

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A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.

The Journal Of Physiology

Bouhours, Magali M; Luce, Sandrine S; Sternberg, Damien D; Willer, Jean Claude JC; Fontaine, Bertrand B; Tabti, Nacira N

Publication Date: 2005-06-01

Variant appearance in text: SCN4A: I1160V

PubMed Link: 15790667

Variant Present in the following documents:

• Main text

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Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel.

The Journal Of General Physiology

Filatov, G N GN; Nguyen, T P TP; Kraner, S D SD; Barchi, R L RL

Publication Date: 1998-06

Variant appearance in text: SkM1: I1160V

PubMed Link: 9607932

Variant Present in the following documents:

• Main text
• GP-7637.pdf

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