Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: EPHA2: R876H

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy.

Journal Of Experimental & Clinical Cancer Research : Cr

Trivieri, Nadia N; Visioli, Alberto A; Mencarelli, Gandino G; Cariglia, Maria Grazia MG; Marongiu, Laura L; Pracella, Riccardo R; Giani, Fabrizio F; Soriano, Amata Amy AA; Barile, Chiara C; Cajola, Laura L; Copetti, Massimiliano M; Palumbo, Orazio O; Legnani, Federico F; DiMeco, Francesco F; Gorgoglione, Leonardo L; Vescovi, Angelo L AL; Binda, Elena E

Publication Date: 2022-04-12

Variant appearance in text: EPHA2: R876H; rs35903225

PubMed Link: 35414102

Variant Present in the following documents:

• 13046_2022_2333_MOESM3_ESM.xlsx, sheet 1
• 13046_2022_2333_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.

Human Genetics

Smits, Jeroen J JJ; de Bruijn, Suzanne E SE; Lanting, Cornelis P CP; Oostrik, Jaap J; O'Gorman, Luke L; Mantere, Tuomo T; , ; Cremers, Frans P M FPM; Roosing, Susanne S; Yntema, Helger G HG; de Vrieze, Erik E; Derks, Ronny R; Hoischen, Alexander A; Pegge, Sjoert A H SAH; Neveling, Kornelia K; Pennings, Ronald J E RJE; Kremer, Hannie H

Publication Date: 2022-04

Variant appearance in text: EPHA2: Arg876His

PubMed Link: 34410491

Variant Present in the following documents:

• Main text
• 439_2021_Article_2336.pdf

View BVdb publication page

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Functional analysis of deleterious EPHA2 SNPs in lens epithelial cells.

Molecular Vision

Li, Dan D; Han, Xiaoyan X; Zhao, Zhennan Z; Lu, Yi Y; Yang, Jin J

Publication Date: 2021

Variant appearance in text: rs35903225

PubMed Link: 34267496

Variant Present in the following documents:

• Main text
• mv-v27-403.pdf

View BVdb publication page

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Functional analysis of deleterious EPHA2 SNPs in lens epithelial cells.

Molecular Vision

Li, Dan D; Han, Xiaoyan X; Zhao, Zhennan Z; Lu, Yi Y; Yang, Jin J

Publication Date: 2021

Variant appearance in text: rs35903225

PubMed Link: 34220184

Variant Present in the following documents:

• Main text
• mv-v27-384.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: EPHA2: R876H

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: EPHA2: 2627G>A; Arg876His

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 12
• Supplementary_Data2.xlsx, sheet 9
• Supplementary_Data2.xlsx, sheet 10
• Supplementary_Data2.xlsx, sheet 11

View BVdb publication page

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EPHA2 mutations with oncogenic characteristics in squamous cell lung cancer and malignant pleural mesothelioma.

Oncogenesis

Tan, Yi-Hung Carol YC; Srivastava, Saumya S; Won, Brian M BM; Kanteti, Rajani R; Arif, Qudsia Q; Husain, Aliya N AN; Li, Hubert H; Vigneswaran, Wickii T WT; Pang, Ka-Ming KM; Kulkarni, Prakash P; Sattler, Martin M; Vaidehi, Nagarajan N; Mambetsariev, Isa I; Kindler, Hedy L HL; Wheeler, Deric L DL; Salgia, Ravi R

Publication Date: 2019-09-04

Variant appearance in text: EPHA2: R876H

PubMed Link: 31484920

Variant Present in the following documents:

• Main text
• 41389_2019_Article_159.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: EPHA2: 2627G>A; Arg876His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: EPHA2: R876H; rs35903225

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs35903225

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: R876H; rs35903225

PubMed Link: 29267365

Variant Present in the following documents:

• Main text
• pone.0189881.s004.xlsx, sheet 1
• pone.0189881.pdf
• pone.0189881.s005.xlsx, sheet 1

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: EPHA2: R876H; rs35903225

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging

Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,

Publication Date: 2016-12

Variant appearance in text: EPHA2: R876H

PubMed Link: 27640074

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 5

View BVdb publication page

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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: rs35903225

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: EPHA2: R876H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: EPHA2: R876H; rs35903225

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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: R876H; rs35903225

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: EPHA2: R876H; rs35903225

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Screening and structural evaluation of deleterious Non-Synonymous SNPs of ePHA2 gene involved in susceptibility to cataract formation.

Bioinformation

Masoodi, Tariq Ahmad TA; Shammari, Sulaiman A Al SA; Al-Muammar, May N MN; Almubrad, Turki M TM; Alhamdan, Adel A AA

Publication Date: 2012

Variant appearance in text: EPHA2: R876H; rs35903225

PubMed Link: 22829731

Variant Present in the following documents:

• Main text
• 97320630008562S1.pdf
• 97320630008562.pdf

View BVdb publication page

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