Publications:

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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: rs3754334

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Roles of Eph-Ephrin Signaling in the Eye Lens Cataractogenesis, Biomechanics, and Homeostasis.

Frontiers In Cell And Developmental Biology

Murugan, Subashree S; Cheng, Catherine C

Publication Date: 2022

Variant appearance in text: rs3754334

PubMed Link: 35295853

Variant Present in the following documents:

• Main text
• fcell-10-852236.pdf

View BVdb publication page

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EphA2 overexpression reduces H2O2-induced damage of lens epithelial cells.

Genetics And Molecular Biology

Ji, Qingshan Q; Liu, Jing J; Wang, Guifang G; Liu, Lian L; Zhong, Jingxiang J

Publication Date: 2021

Variant appearance in text: rs3754334

PubMed Link: 34358285

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-44-3-e20200414.pdf

View BVdb publication page

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Association between MMP-2 gene polymorphism and cataract susceptibility: A protocol for systematic review and meta-analysis.

Medicine

Jiang, Huaiyan H; Gao, Yang Y; Chen, Zhen Z; Xu, Hongxia H

Publication Date: 2021-04-09

Variant appearance in text: rs3754334

PubMed Link: 33832130

Variant Present in the following documents:

• medi-100-e25392.pdf

View BVdb publication page

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A very early diagnosis of Alstrӧm syndrome by next generation sequencing.

Bmc Medical Genetics

Gatticchi, Leonardo L; Miertus, Jan J; Maltese, Paolo Enrico PE; Bressan, Simone S; De Antoni, Luca L; Podracká, Ludmila L; Piteková, Lucia L; Rísová, Vanda V; Mällo, Mari M; Jaakson, Kaie K; Joost, Kairit K; Colombo, Leonardo L; Bertelli, Matteo M

Publication Date: 2020-09-01

Variant appearance in text: EPHA2: 2874C>T

PubMed Link: 32867697

Variant Present in the following documents:

• 12881_2020_1110_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs3754334

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.

Bmc Medical Genetics

Li, Shan S; Zhang, Jianfei J; Cao, Yixuan Y; You, Yi Y; Zhao, Xiuli X

Publication Date: 2019-12-16

Variant appearance in text: EPHA2: 2874C>T; I958I; rs3754334

PubMed Link: 31842807

Variant Present in the following documents:

• 12881_2019_933_MOESM2_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: EPHA2: 2874C>T; Ile958=; rs3754334

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: EPHA2: I958I; rs3754334

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: EPHA2: 2874C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies.

Ebiomedicine

Visioli, Alberto A; Giani, Fabrizio F; Trivieri, Nadia N; Pracella, Riccardo R; Miccinilli, Elide E; Cariglia, Maria Grazia MG; Palumbo, Orazio O; Arleo, Andrea A; Dezi, Fabio F; Copetti, Massimiliano M; Cajola, Laura L; Restelli, Silvia S; Papa, Valerio V; Sciuto, Antonio A; Latiano, Tiziana Pia TP; Carella, Massimo M; Amadori, Dino D; Gallerani, Giulia G; Ricci, Riccardo R; Alfieri, Sergio S; Pesole, Graziano G; Vescovi, Angelo L AL; Binda, Elena E

Publication Date: 2019-06

Variant appearance in text: EPHA2: 2874C>T; I958I

PubMed Link: 31056474

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc1.xls, 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: rs3754334

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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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: EPHA2: 2874C>T; rs3754334

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: EPHA2: 2874C>T; I958I; rs3754334

PubMed Link: 29267365

Variant Present in the following documents:

• Main text
• pone.0189881.pdf

View BVdb publication page

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Associations of high altitude polycythemia with polymorphisms in EPHA2 and AGT in Chinese Han and Tibetan populations.

Oncotarget

Liu, Lijun L; Zhang, Yao Y; Zhang, Zhiying Z; Zhao, Yiduo Y; Fan, Xiaowei X; Ma, Lifeng L; Zhang, Yuan Y; He, Haijin H; Kang, Longli L

Publication Date: 2017-08-08

Variant appearance in text: rs3754334

PubMed Link: 28881807

Variant Present in the following documents:

• Main text
• oncotarget-08-53234.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3754334

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Bmc Medical Genetics

Javadiyan, Shari S; Craig, Jamie E JE; Sharma, Shiwani S; Lower, Karen M KM; Casey, Theresa T; Haan, Eric E; Souzeau, Emmanuelle E; Burdon, Kathryn P KP

Publication Date: 2017-05-08

Variant appearance in text: EPHA2: 2874C>T; rs3754334

PubMed Link: 28482824

Variant Present in the following documents:

• 12881_2017_414_MOESM2_ESM.xlsx, sheet 2
• 12881_2017_414_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis.

Plos One

Wu, Xiaohang X; Lai, Weiyi W; Lin, Haotian H; Liu, Yizhi Y

Publication Date: 2017

Variant appearance in text: rs3754334

PubMed Link: 28253266

Variant Present in the following documents:

• Main text
• pone.0172092.pdf

View BVdb publication page

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Association between polymorphisms of OGG1, EPHA2 and age-related cataract risk: a meta-analysis.

Bmc Ophthalmology

Zhang, Hongxu H; Zhong, Jianguang J; Bian, Zhenyu Z; Fang, Xiang X; Peng, You Y; Hu, Yongping Y

Publication Date: 2016-09-29

Variant appearance in text: rs3754334

PubMed Link: 27681698

Variant Present in the following documents:

• Main text
• 12886_2016_Article_341.pdf

View BVdb publication page

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The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Oncotarget

Lim, Chul-Hyun CH; Cho, Yu Kyung YK; Kim, Sang Woo SW; Choi, Myung-Gyu MG; Rhee, Je-Keun JK; Chung, Yeun-Jun YJ; Lee, Sug-Hyung SH; Kim, Tae-Min TM

Publication Date: 2016-06-28

Variant appearance in text: EPHA2: I958I

PubMed Link: 27175599

Variant Present in the following documents:

• oncotarget-07-39758-s006.xlsx, sheet 1

View BVdb publication page

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Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.

Chinese Medical Journal

Min, Han-Yi HY; Qiao, Peng-Peng PP; , ; Yan, Zhi-Hui ZH; Jiang, Hui-Feng HF; Zhu, Ya-Ping YP; Du, Hui-Qian HQ; Li, Qin Q; Wang, Jia-Wei JW; Zhang, Jie J; Sun, Jun J; Yi, Xin X; Yang, Ling L

Publication Date: 2016-04-05

Variant appearance in text: EPHA2: 2874C>T; rs3754334

PubMed Link: 26996484

Variant Present in the following documents:

• Main text
• CMJ-129-860.pdf

View BVdb publication page

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The Polymorphisms with Cataract Susceptibility Impair the EPHA2 Receptor Stability and Its Cytoprotective Function.

Journal Of Ophthalmology

Yang, Jin J; Li, Dan D; Fan, Qi Q; Cai, Lei L; Qiu, Xiaodi X; Zhou, Peng P; Lu, Yi Y

Publication Date: 2015

Variant appearance in text: rs3754334

PubMed Link: 26664742

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: EPHA2: 2874C>T; I958I; rs3754334

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 4
• pone.0140684.s004.xlsx, sheet 5

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: EPHA2: I958I; rs3754334

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: EPHA2: I958I; rs3754334

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract.

Molecular Vision

Reis, Linda M LM; Tyler, Rebecca C RC; Semina, Elena V EV

Publication Date: 2014

Variant appearance in text: rs3754334

PubMed Link: 24940039

Variant Present in the following documents:

• mv-v20-836.pdf

View BVdb publication page

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Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.

Plos One

Dave, Alpana A; Laurie, Kate K; Staffieri, Sandra E SE; Taranath, Deepa D; Mackey, David A DA; Mitchell, Paul P; Wang, Jie Jin JJ; Craig, Jamie E JE; Burdon, Kathryn P KP; Sharma, Shiwani S

Publication Date: 2013

Variant appearance in text: rs3754334

PubMed Link: 24014202

Variant Present in the following documents:

• Main text
• pone.0072518.pdf

View BVdb publication page

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Association of the ephreceptor tyrosinekinase-type A2 (EPHA2) gene polymorphism rs3754334 with age-related cataract risk: a meta-analysis.

Plos One

Yang, Jin J; Luo, Jianfeng J; Zhou, Peng P; Fan, Qi Q; Luo, Yi Y; Lu, Yi Y

Publication Date: 2013

Variant appearance in text: rs3754334

PubMed Link: 23976972

Variant Present in the following documents:

• Main text

View BVdb publication page

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EPHA2 polymorphisms and age-related cataract in India.

Plos One

Sundaresan, Periasamy P; Ravindran, Ravilla D RD; Vashist, Praveen P; Shanker, Ashwini A; Nitsch, Dorothea D; Talwar, Badrinath B; Maraini, Giovanni G; Camparini, Monica M; Nonyane, Bareng Aletta S BA; Smeeth, Liam L; Chakravarthy, Usha U; Hejtmancik, James F JF; Fletcher, Astrid E AE

Publication Date: 2012

Variant appearance in text: rs3754334

PubMed Link: 22412971

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population.

Molecular Vision

Tan, Wei W; Hou, Shengping S; Jiang, Zhengxuan Z; Hu, Zheng Z; Yang, Peizeng P; Ye, Jian J

Publication Date: 2011

Variant appearance in text: rs3754334

PubMed Link: 21686326

Variant Present in the following documents:

• Main text
• mv-v17-1553.pdf

View BVdb publication page

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Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.

Molecular Vision

Kaul, Haiba H; Riazuddin, S Amer SA; Shahid, Mariam M; Kousar, Samra S; Butt, Nadeem H NH; Zafar, Ahmad U AU; Khan, Shaheen N SN; Husnain, Tayyab T; Akram, Javed J; Hejtmancik, J Fielding JF; Riazuddin, Sheikh S

Publication Date: 2010-03-24

Variant appearance in text: rs3754334

PubMed Link: 20361013

Variant Present in the following documents:

• Main text

View BVdb publication page

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EPHA2 is associated with age-related cortical cataract in mice and humans.

Plos Genetics

Jun, Gyungah G; Guo, Hong H; Klein, Barbara E K BE; Klein, Ronald R; Wang, Jie Jin JJ; Mitchell, Paul P; Miao, Hui H; Lee, Kristine E KE; Joshi, Tripti T; Buck, Matthias M; Chugha, Preeti P; Bardenstein, David D; Klein, Alison P AP; Bailey-Wilson, Joan E JE; Gong, Xiaohua X; Spector, Tim D TD; Andrew, Toby T; Hammond, Christopher J CJ; Elston, Robert C RC; Iyengar, Sudha K SK; Wang, Bingcheng B

Publication Date: 2009-07

Variant appearance in text: EPHA2: Ile958Ile; rs3754334

PubMed Link: 19649315

Variant Present in the following documents:

• Main text

View BVdb publication page

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The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Molecular Vision

Shiels, Alan A; Bennett, Thomas M TM; Knopf, Harry L S HL; Maraini, Giovanni G; Li, Anren A; Jiao, Xiaodong X; Hejtmancik, J Fielding JF

Publication Date: 2008

Variant appearance in text: EPHA2: I958I; rs3754334

PubMed Link: 19005574

Variant Present in the following documents:

• Main text
• mv-v14-2042.pdf

View BVdb publication page

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