Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs6565259

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: ATP2A1: T226T; rs6565259

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: ATP2A1: T226T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: ATP2A1: T226T; rs6565259

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: rs6565259

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ATP2A1: 678T>C; rs6565259

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: ATP2A1: Thr226Thr; rs6565259

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: ATP2A1: 678T>C; rs6565259

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: ATP2A1: T226T; rs6565259

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 12

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: ATP2A1: 678T>C; rs6565259

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: ATP2A1: 678T>C; rs6565259

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ATP2A1: T226T; rs6565259

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs6565259

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_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: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: ATP2A1: T226T; rs6565259

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: ATP2A1: 678T>C; Thr226=

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics

Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA

Publication Date: 2016-07

Variant appearance in text: rs6565259

PubMed Link: 27182965

Variant Present in the following documents:

• NIHMS780506-supplement-5.pdf

View BVdb publication page

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New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

Nature Communications

Lu, Yingchang Y; Day, Felix R FR; Gustafsson, Stefan S; Buchkovich, Martin L ML; Na, Jianbo J; Bataille, Veronique V; Cousminer, Diana L DL; Dastani, Zari Z; Drong, Alexander W AW; Esko, Tõnu T; Evans, David M DM; Falchi, Mario M; Feitosa, Mary F MF; Ferreira, Teresa T; Hedman, Åsa K ÅK; Haring, Robin R; Hysi, Pirro G PG; Iles, Mark M MM; Justice, Anne E AE; Kanoni, Stavroula S; Lagou, Vasiliki V; Li, Rui R; Li, Xin X; Locke, Adam A; Lu, Chen C; Mägi, Reedik R; Perry, John R B JR; Pers, Tune H TH; Qi, Qibin Q; Sanna, Marianna M; Schmidt, Ellen M EM; Scott, William R WR; Shungin, Dmitry D; Teumer, Alexander A; Vinkhuyzen, Anna A E AA; Walker, Ryan W RW; Westra, Harm-Jan HJ; Zhang, Mingfeng M; Zhang, Weihua W; Zhao, Jing Hua JH; Zhu, Zhihong Z; Afzal, Uzma U; Ahluwalia, Tarunveer Singh TS; Bakker, Stephan J L SJ; Bellis, Claire C; Bonnefond, Amélie A; Borodulin, Katja K; Buchman, Aron S AS; Cederholm, Tommy T; Choh, Audrey C AC; Choi, Hyung Jin HJ; Curran, Joanne E JE; de Groot, Lisette C P G M LC; De Jager, Philip L PL; Dhonukshe-Rutten, Rosalie A M RA; Enneman, Anke W AW; Eury, Elodie E; Evans, Daniel S DS; Forsen, Tom T; Friedrich, Nele N; Fumeron, Frédéric F; Garcia, Melissa E ME; Gärtner, Simone S; Han, Bok-Ghee BG; Havulinna, Aki S AS; Hayward, Caroline C; Hernandez, Dena D; Hillege, Hans H; Ittermann, Till T; Kent, Jack W JW; Kolcic, Ivana I; Laatikainen, Tiina T; Lahti, Jari J; Mateo Leach, Irene I; Lee, Christine G CG; Lee, Jong-Young JY; Liu, Tian T; Liu, Youfang Y; Lobbens, Stéphane S; Loh, Marie M; Lyytikäinen, Leo-Pekka LP; Medina-Gomez, Carolina C; Michaëlsson, Karl K; Nalls, Mike A MA; Nielson, Carrie M CM; Oozageer, Laticia L; Pascoe, Laura L; Paternoster, Lavinia L; Polašek, Ozren O; Ripatti, Samuli S; Sarzynski, Mark A MA; Shin, Chan Soo CS; Narančić, Nina Smolej NS; Spira, Dominik D; Srikanth, Priya P; Steinhagen-Thiessen, Elisabeth E; Sung, Yun Ju YJ; Swart, Karin M A KM; Taittonen, Leena L; Tanaka, Toshiko T; Tikkanen, Emmi E; van der Velde, Nathalie N; van Schoor, Natasja M NM; Verweij, Niek N; Wright, Alan F AF; Yu, Lei L; Zmuda, Joseph M JM; Eklund, Niina N; Forrester, Terrence T; Grarup, Niels N; Jackson, Anne U AU; Kristiansson, Kati K; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Lichtner, Peter P; Luan, Jian'an J; Mahajan, Anubha A; Männistö, Satu S; Palmer, Cameron D CD; Ried, Janina S JS; Scott, Robert A RA; Stancáková, Alena A; Wagner, Peter J PJ; Demirkan, Ayse A; Döring, Angela A; Gudnason, Vilmundur V; Kiel, Douglas P DP; Kühnel, Brigitte B; Mangino, Massimo M; Mcknight, Barbara B; Menni, Cristina C; O'Connell, Jeffrey R JR; Oostra, Ben A BA; Shuldiner, Alan R AR; Song, Kijoung K; Vandenput, Liesbeth L; van Duijn, Cornelia M CM; Vollenweider, Peter P; White, Charles C CC; Boehnke, Michael M; Boettcher, Yvonne Y; Cooper, Richard S RS; Forouhi, Nita G NG; Gieger, Christian C; Grallert, Harald H; Hingorani, Aroon A; Jørgensen, Torben T; Jousilahti, Pekka P; Kivimaki, Mika M; Kumari, Meena M; Laakso, Markku M; Langenberg, Claudia C; Linneberg, Allan A; Luke, Amy A; Mckenzie, Colin A CA; Palotie, Aarno A; Pedersen, Oluf O; Peters, Annette A; Strauch, Konstantin K; Tayo, Bamidele O BO; Wareham, Nicholas J NJ; Bennett, David A DA; Bertram, Lars L; Blangero, John J; Blüher, Matthias M; Bouchard, Claude C; Campbell, Harry H; Cho, Nam H NH; Cummings, Steven R SR; Czerwinski, Stefan A SA; Demuth, Ilja I; Eckardt, Rahel R; Eriksson, Johan G JG; Ferrucci, Luigi L; Franco, Oscar H OH; Froguel, Philippe P; Gansevoort, Ron T RT; Hansen, Torben T; Harris, Tamara B TB; Hastie, Nicholas N; Heliövaara, Markku M; Hofman, Albert A; Jordan, Joanne M JM; Jula, Antti A; Kähönen, Mika M; Kajantie, Eero E; Knekt, Paul B PB; Koskinen, Seppo S; Kovacs, Peter P; Lehtimäki, Terho T; Lind, Lars L; Liu, Yongmei Y; Orwoll, Eric S ES; Osmond, Clive C; Perola, Markus M; Pérusse, Louis L; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Rivadeneira, Fernando F; Rudan, Igor I; Salomaa, Veikko V; Sørensen, Thorkild I A TI; Stumvoll, Michael M; Tönjes, Anke A; Towne, Bradford B; Tranah, Gregory J GJ; Tremblay, Angelo A; Uitterlinden, André G AG; van der Harst, Pim P; Vartiainen, Erkki E; Viikari, Jorma S JS; Vitart, Veronique V; Vohl, Marie-Claude MC; Völzke, Henry H; Walker, Mark M; Wallaschofski, Henri H; Wild, Sarah S; Wilson, James F JF; Yengo, Loïc L; Bishop, D Timothy DT; Borecki, Ingrid B IB; Chambers, John C JC; Cupples, L Adrienne LA; Dehghan, Abbas A; Deloukas, Panos P; Fatemifar, Ghazaleh G; Fox, Caroline C; Furey, Terrence S TS; Franke, Lude L; Han, Jiali J; Hunter, David J DJ; Karjalainen, Juha J; Karpe, Fredrik F; Kaplan, Robert C RC; Kooner, Jaspal S JS; McCarthy, Mark I MI; Murabito, Joanne M JM; Morris, Andrew P AP; Bishop, Julia A N JA; North, Kari E KE; Ohlsson, Claes C; Ong, Ken K KK; Prokopenko, Inga I; Richards, J Brent JB; Schadt, Eric E EE; Spector, Tim D TD; Widén, Elisabeth E; Willer, Cristen J CJ; Yang, Jian J; Ingelsson, Erik E; Mohlke, Karen L KL; Hirschhorn, Joel N JN; Pospisilik, John Andrew JA; Zillikens, M Carola MC; Lindgren, Cecilia C; Kilpeläinen, Tuomas Oskari TO; Loos, Ruth J F RJ

Publication Date: 2016-02-01

Variant appearance in text: ATP2A1: T226T; rs6565259

PubMed Link: 26833246

Variant Present in the following documents:

• ncomms10495-s1.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: ATP2A1: T226T; rs6565259

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ATP2A1: T226T; rs6565259

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors.

Molecular Oncology

Quigley, David A DA; Fiorito, Elisa E; Nord, Silje S; Van Loo, Peter P; Alnæs, Grethe Grenaker GG; Fleischer, Thomas T; Tost, Jorg J; Moen Vollan, Hans Kristian HK; Tramm, Trine T; Overgaard, Jens J; Bukholm, Ida R IR; Hurtado, Antoni A; Balmain, Allan A; Børresen-Dale, Anne-Lise AL; Kristensen, Vessela V

Publication Date: 2014-03

Variant appearance in text: rs6565259

PubMed Link: 24388359

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: ATP2A1: T226T; rs6565259

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology

Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N

Publication Date: 2013-11

Variant appearance in text: rs6565259

PubMed Link: 23633020

Variant Present in the following documents:

• jid2013196x1.pdf

View BVdb publication page

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