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: ATP1A2: 2291T>C; Leu764Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.

The Journal Of Headache And Pain

Li, Yingji Y; Tang, Wenjing W; Kang, Li L; Kong, Shanshan S; Dong, Zhao Z; Zhao, Dengfa D; Liu, Ruozhuo R; Yu, Shengyuan S

Publication Date: 2021-08-12

Variant appearance in text: ATP1A2: L764P

PubMed Link: 34384358

Variant Present in the following documents:

• Main text
• 10194_2021_Article_1309.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: ATP1A2: 2291T>C; Leu764Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease.

Frontiers In Physiology

Friedrich, Thomas T; Tavraz, Neslihan N NN; Junghans, Cornelia C

Publication Date: 2016

Variant appearance in text: FHM2: L764P

PubMed Link: 27445835

Variant Present in the following documents:

• Main text
• fphys-07-00239.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: FHM2: L764P; rs28933398

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: ATP1A2: L764P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models.

Human Genomics

Gritz, Stephanie M SM; Radcliffe, Richard A RA

Publication Date: 2013-04-05

Variant appearance in text: ATP1A2: L764P

PubMed Link: 23561701

Variant Present in the following documents:

• Main text
• 1479-7364-7-8.pdf

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Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.

Human Genetics

Ashmore, Lesley J LJ; Hrizo, Stacy L SL; Paul, Sarah M SM; Van Voorhies, Wayne A WA; Beitel, Greg J GJ; Palladino, Michael J MJ

Publication Date: 2009-09

Variant appearance in text: ATP1A2: L764P

PubMed Link: 19455355

Variant Present in the following documents:

• 439_2009_Article_673.pdf

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Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.

The Journal Of Biological Chemistry

Tavraz, Neslihan N NN; Friedrich, Thomas T; Dürr, Katharina L KL; Koenderink, Jan B JB; Bamberg, Ernst E; Freilinger, Tobias T; Dichgans, Martin M

Publication Date: 2008-11-07

Variant appearance in text: ATP1A2: L764P

PubMed Link: 18728015

Variant Present in the following documents:

• Main text

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Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Segall, Laura L; Mezzetti, Alessandra A; Scanzano, Rosemarie R; Gargus, J Jay JJ; Purisima, Enrico E; Blostein, Rhoda R

Publication Date: 2005-08-02

Variant appearance in text: ATP1A2: L764P

PubMed Link: 16037212

Variant Present in the following documents:

• Main text

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