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: GIT2: N387S

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 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: GIT2: N387S; rs925368

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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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: GIT2: 1160A>G; Asn387Ser; rs925368

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.

Nature Genetics

Miyazawa, Kazuo K; Ito, Kaoru K; Ito, Masamichi M; Zou, Zhaonan Z; Kubota, Masayuki M; Nomura, Seitaro S; Matsunaga, Hiroshi H; Koyama, Satoshi S; Ieki, Hirotaka H; Akiyama, Masato M; Koike, Yoshinao Y; Kurosawa, Ryo R; Yoshida, Hiroki H; Ozaki, Kouichi K; Onouchi, Yoshihiro Y; , ; Takahashi, Atsushi A; Matsuda, Koichi K; Murakami, Yoshinori Y; Aburatani, Hiroyuki H; Kubo, Michiaki M; Momozawa, Yukihide Y; Terao, Chikashi C; Oki, Shinya S; Akazawa, Hiroshi H; Kamatani, Yoichiro Y; Komuro, Issei I

Publication Date: 2023-01-19

Variant appearance in text: rs925368

PubMed Link: 36653681

Variant Present in the following documents:

• 41588_2022_1284_MOESM3_ESM.pdf

View BVdb publication page

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Genome-wide association study of leprosy in Malawi and Mali.

Plos Pathogens

Gilchrist, James J JJ; Auckland, Kathryn K; Parks, Tom T; Mentzer, Alexander J AJ; Goldblatt, Lily L; Naranbhai, Vivek V; Band, Gavin G; Rockett, Kirk A KA; Toure, Ousmane B OB; Konate, Salimata S; Sissoko, Sibiri S; Djimdé, Abdoulaye A AA; Thera, Mahamadou A MA; Doumbo, Ogobara K OK; Sow, Samba S; Floyd, Sian S; Pönnighaus, Jörg M JM; Warndorff, David K DK; Crampin, Amelia C AC; Fine, Paul E M PEM; Fairfax, Benjamin P BP; Hill, Adrian V S AVS

Publication Date: 2022-09

Variant appearance in text: rs925368

PubMed Link: 36121873

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences

Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q

Publication Date: 2021

Variant appearance in text: GIT2: 1160A>G; Asn387Ser; rs925368

PubMed Link: 34104084

Variant Present in the following documents:

• ijmsv18p2532s2.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: GIT2: 1160A>G; N387S; rs925368

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: GIT2: Asn387Ser; rs925368

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of type 2 diabetes loci in 433,540 East Asian individuals.

Nature

Spracklen, Cassandra N CN; Horikoshi, Momoko M; Kim, Young Jin YJ; Lin, Kuang K; Bragg, Fiona F; Moon, Sanghoon S; Suzuki, Ken K; Tam, Claudia H T CHT; Tabara, Yasuharu Y; Kwak, Soo-Heon SH; Takeuchi, Fumihiko F; Long, Jirong J; Lim, Victor J Y VJY; Chai, Jin-Fang JF; Chen, Chien-Hsiun CH; Nakatochi, Masahiro M; Yao, Jie J; Choi, Hyeok Sun HS; Iyengar, Apoorva K AK; Perrin, Hannah J HJ; Brotman, Sarah M SM; van de Bunt, Martijn M; Gloyn, Anna L AL; Below, Jennifer E JE; Boehnke, Michael M; Bowden, Donald W DW; Chambers, John C JC; Mahajan, Anubha A; McCarthy, Mark I MI; Ng, Maggie C Y MCY; Petty, Lauren E LE; Zhang, Weihua W; Morris, Andrew P AP; Adair, Linda S LS; Akiyama, Masato M; Bian, Zheng Z; Chan, Juliana C N JCN; Chang, Li-Ching LC; Chee, Miao-Li ML; Chen, Yii-Der Ida YI; Chen, Yuan-Tsong YT; Chen, Zhengming Z; Chuang, Lee-Ming LM; Du, Shufa S; Gordon-Larsen, Penny P; Gross, Myron M; Guo, Xiuqing X; Guo, Yu Y; Han, Sohee S; Howard, Annie-Green AG; Huang, Wei W; Hung, Yi-Jen YJ; Hwang, Mi Yeong MY; Hwu, Chii-Min CM; Ichihara, Sahoko S; Isono, Masato M; Jang, Hye-Mi HM; Jiang, Guozhi G; Jonas, Jost B JB; Kamatani, Yoichiro Y; Katsuya, Tomohiro T; Kawaguchi, Takahisa T; Khor, Chiea-Chuen CC; Kohara, Katsuhiko K; Lee, Myung-Shik MS; Lee, Nanette R NR; Li, Liming L; Liu, Jianjun J; Luk, Andrea O AO; Lv, Jun J; Okada, Yukinori Y; Pereira, Mark A MA; Sabanayagam, Charumathi C; Shi, Jinxiu J; Shin, Dong Mun DM; So, Wing Yee WY; Takahashi, Atsushi A; Tomlinson, Brian B; Tsai, Fuu-Jen FJ; van Dam, Rob M RM; Xiang, Yong-Bing YB; Yamamoto, Ken K; Yamauchi, Toshimasa T; Yoon, Kyungheon K; Yu, Canqing C; Yuan, Jian-Min JM; Zhang, Liang L; Zheng, Wei W; Igase, Michiya M; Cho, Yoon Shin YS; Rotter, Jerome I JI; Wang, Ya-Xing YX; Sheu, Wayne H H WHH; Yokota, Mitsuhiro M; Wu, Jer-Yuarn JY; Cheng, Ching-Yu CY; Wong, Tien-Yin TY; Shu, Xiao-Ou XO; Kato, Norihiro N; Park, Kyong-Soo KS; Tai, E-Shyong ES; Matsuda, Fumihiko F; Koh, Woon-Puay WP; Ma, Ronald C W RCW; Maeda, Shiro S; Millwood, Iona Y IY; Lee, Juyoung J; Kadowaki, Takashi T; Walters, Robin G RG; Kim, Bong-Jo BJ; Mohlke, Karen L KL; Sim, Xueling X

Publication Date: 2020-06

Variant appearance in text: GIT2: N387S

PubMed Link: 32499647

Variant Present in the following documents:

• NIHMS1570876-supplement-1570876_Supp_Tab1-13.xlsx, sheet 12

View BVdb publication page

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Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study.

Neoplasia (New York, N.Y.)

Chiou, Hsin-Ying Clair HC; Jiang, He-Jiun HJ; Yang, Sheau-Fang SF; Kuo, Kung-Kai KK; Lin, Pi-Chen PC; Hsiao, Pi-Jung PJ

Publication Date: 2020-07

Variant appearance in text: GIT2: 1160A>G; N387S

PubMed Link: 32438306

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: GIT2: N387S

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studies.

Molecular Genetics & Genomic Medicine

Yasukochi, Yoshiki Y; Sakuma, Jun J; Takeuchi, Ichiro I; Kato, Kimihiko K; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T; Horibe, Hideki H; Yamada, Yoshiji Y

Publication Date: 2019-09

Variant appearance in text: GIT2: N387S; rs925368

PubMed Link: 31402603

Variant Present in the following documents:

• Main text
• MGG3-7-e925.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: GIT2: N387S

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 48

View BVdb publication page

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Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Biomedical Reports

Yamada, Yoshiji Y; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Takeuchi, Ichiro I; Sakuma, Jun J

Publication Date: 2018-11

Variant appearance in text: rs925368

PubMed Link: 30402224

Variant Present in the following documents:

• Main text
• br-09-05-0383.pdf

View BVdb publication page

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Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease.

International Journal Of Molecular Medicine

Yamada, Yoshiji Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Yasukochi, Yoshiki Y; Takeuchi, Ichiro I; Sakuma, Jun J

Publication Date: 2018-11

Variant appearance in text: rs925368

PubMed Link: 30226566

Variant Present in the following documents:

• Main text
• ijmm-42-05-2415.pdf

View BVdb publication page

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The genetic epidemiology of substance use disorder: A review.

Drug And Alcohol Dependence

Prom-Wormley, Elizabeth C EC; Ebejer, Jane J; Dick, Danielle M DM; Bowers, M Scott MS

Publication Date: 2017-11-01

Variant appearance in text: rs925368

PubMed Link: 28938182

Variant Present in the following documents:

• Main text

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: rs925368

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, 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: GIT2: N387S; rs925368

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Quillen, Ellen E EE; Chen, Xiang-Ding XD; Almasy, Laura L; Yang, Fang F; He, Hao H; Li, Xi X; Wang, Xu-Yi XY; Liu, Tie-Qiao TQ; Hao, Wei W; Deng, Hong-Wen HW; Kranzler, Henry R HR; Gelernter, Joel J

Publication Date: 2014-03

Variant appearance in text: rs925368

PubMed Link: 24277619

Variant Present in the following documents:

• Main text

View BVdb publication page

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