Publications:

---

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: 2066G>A; Arg689Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: ATP1A2: R689Q; rs28933401

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ATP1A2: R689Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Epilepsy and migraine-Are they comorbidity?

Genes & Diseases

Liao, Jin J; Tian, Xin X; Wang, Hao H; Xiao, Zheng Z

Publication Date: 2018-06

Variant appearance in text: ATP1A2: R689Q

PubMed Link: 30258939

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

The genetic relationship between epilepsy and hemiplegic migraine.

Neuropsychiatric Disease And Treatment

Huang, Yiqing Y; Xiao, Hai H; Qin, Xingyue X; Nong, Yuan Y; Zou, Donghua D; Wu, Yuan Y

Publication Date: 2017

Variant appearance in text: FHM2: R689Q

PubMed Link: 28479855

Variant Present in the following documents:

• Main text
• ndt-13-1175.pdf

View BVdb publication page

---

Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation.

Case Reports In Neurological Medicine

Martínez, E E; Moreno, R R; López-Mesonero, L L; Vidriales, I I; Ruiz, M M; Guerrero, A L AL; Tellería, J J JJ

Publication Date: 2016

Variant appearance in text: ATP1A2: R689Q

PubMed Link: 27818813

Variant Present in the following documents:

• Main text
• CRINM2016-3464285.pdf

View BVdb publication page

---

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: ATP1A2: R689Q

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

---

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: ATP1A2: R689Q

PubMed Link: 27445835

Variant Present in the following documents:

• Main text
• fphys-07-00239.pdf

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ATP1A2: 2066G>A; R689Q

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

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: ATP1A2: R689Q; rs28933401

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: R689Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: ATP1A2: R689Q

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

---

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: R689Q

PubMed Link: 23561701

Variant Present in the following documents:

• Main text
• 1479-7364-7-8.pdf

View BVdb publication page

---

Expression of mutant α1 Na/K-ATPase defective in conformational transition attenuates Src-mediated signal transduction.

The Journal Of Biological Chemistry

Ye, Qiqi Q; Lai, Fangfang F; Banerjee, Moumita M; Duan, Qiming Q; Li, Zhichuan Z; Si, Shuyi S; Xie, Zijian Z

Publication Date: 2013-02-22

Variant appearance in text: FHM2: R689Q

PubMed Link: 23288841

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: R689Q

PubMed Link: 19455355

Variant Present in the following documents:

• 439_2009_Article_673.pdf

View BVdb publication page

---

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: R689Q

PubMed Link: 18728015

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The 59th Symposium of the Society of General Physiologists. Na,K-ATPase and related cation pumps: structures, mechanisms, and diseases.

The Journal Of General Physiology

Publication Date: 2006-02

Variant appearance in text: FHM2: R689Q

PubMed Link: 16446500

Variant Present in the following documents:

• Main text
• jgp1270077.pdf

View BVdb publication page

---

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: FHM2: R689Q

PubMed Link: 16037212

Variant Present in the following documents:

• Main text

View BVdb publication page

---