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: AHNAK2: L3177V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: AHNAK2: L3177V; rs2819426

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Genome-wide association study for systemic lupus erythematosus in an egyptian population.

Frontiers In Genetics

Elghzaly, Ashraf A AA; Sun, Celi C; Looger, Loren L LL; Hirose, Misa M; Salama, Mohamed M; Khalil, Noha M NM; Behiry, Mervat Essam ME; Hegazy, Mohamed Tharwat MT; Hussein, Mohamed Ahmed MA; Salem, Mohamad Nabil MN; Eltoraby, Ehab E; Tawhid, Ziyad Z; Alwasefy, Mona M; Allam, Walaa W; El-Shiekh, Iman I; Elserafy, Menattallah M; Abdelnaser, Anwar A; Hashish, Sara S; Shebl, Nourhan N; Shahba, Abeer Abdelmonem AA; Elgirby, Amira A; Hassab, Amina A; Refay, Khalida K; El-Touchy, Hanan Mohamed HM; Youssef, Ali A; Shabacy, Fatma F; Hashim, Abdelkader Ahmed AA; Abdelzaher, Asmaa A; Alshebini, Emad E; Fayez, Dalia D; El-Bakry, Samah A SA; Elzohri, Mona H MH; Abdelsalam, Eman Nagiub EN; El-Khamisy, Sherif F SF; Ibrahim, Saleh S; Ragab, Gaafar G; Nath, Swapan K SK

Publication Date: 2022

Variant appearance in text: rs2819426

PubMed Link: 36324510

Variant Present in the following documents:

• Main text
• fgene-13-948505.pdf

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: AHNAK2: L3177V

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

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: AHNAK2: 9529C>G; L3177V; rs2819426

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: AHNAK2: Leu3177Val; rs2819426

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.

Annals Of The Rheumatic Diseases

Yin, Xianyong X; Kim, Kwangwoo K; Suetsugu, Hiroyuki H; Bang, So-Young SY; Wen, Leilei L; Koido, Masaru M; Ha, Eunji E; Liu, Lu L; Sakamoto, Yuma Y; Jo, Sungsin S; Leng, Rui-Xue RX; Otomo, Nao N; Laurynenka, Viktoryia V; Kwon, Young-Chang YC; Sheng, Yujun Y; Sugano, Nobuhiko N; Hwang, Mi Yeong MY; Li, Weiran W; Mukai, Masaya M; Yoon, Kyungheon K; Cai, Minglong M; Ishigaki, Kazuyoshi K; Chung, Won Tae WT; Huang, He H; Takahashi, Daisuke D; Lee, Shin-Seok SS; Wang, Mengwei M; Karino, Kohei K; Shim, Seung-Cheol SC; Zheng, Xiaodong X; Miyamura, Tomoya T; Kang, Young Mo YM; Ye, Dongqing D; Nakamura, Junichi J; Suh, Chang-Hee CH; Tang, Yuanjia Y; Motomura, Goro G; Park, Yong-Beom YB; Ding, Huihua H; Kuroda, Takeshi T; Choe, Jung-Yoon JY; Li, Chengxu C; Niiro, Hiroaki H; Park, Youngho Y; Shen, Changbing C; Miyamoto, Takeshi T; Ahn, Ga-Young GY; Fei, Wenmin W; Takeuchi, Tsutomu T; Shin, Jung-Min JM; Li, Keke K; Kawaguchi, Yasushi Y; Lee, Yeon-Kyung YK; Wang, Yongfei Y; Amano, Koichi K; Park, Dae Jin DJ; Yang, Wanling W; Tada, Yoshifumi Y; Yamaji, Ken K; Shimizu, Masato M; Atsumi, Takashi T; Suzuki, Akari A; Sumida, Takayuki T; Okada, Yukinori Y; Matsuda, Koichi K; Matsuo, Keitaro K; Kochi, Yuta Y; , ; Kottyan, Leah C LC; Weirauch, Matthew T MT; Parameswaran, Sreeja S; Eswar, Shruti S; Salim, Hanan H; Chen, Xiaoting X; Yamamoto, Kazuhiko K; Harley, John B JB; Ohmura, Koichiro K; Kim, Tae-Hwan TH; Yang, Sen S; Yamamoto, Takuaki T; Kim, Bong-Jo BJ; Shen, Nan N; Ikegawa, Shiro S; Lee, Hye-Soon HS; Zhang, Xuejun X; Terao, Chikashi C; Cui, Yong Y; Bae, Sang-Cheol SC

Publication Date: 2021-05

Variant appearance in text: rs2819426

PubMed Link: 33272962

Variant Present in the following documents:

• Main text

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: AHNAK2: L3177V

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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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: AHNAK2: 9529C>G; Leu3177Val; rs2819426

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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: rs2819426

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: AHNAK2: L3177V; rs2819426

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs2819426

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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