Publications:

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Investigating the association between glycaemic traits and colorectal cancer in the Japanese population using Mendelian randomisation.

Scientific Reports

Hanyuda, Akiko A; Goto, Atsushi A; Katagiri, Ryoko R; Koyanagi, Yuriko N YN; Nakatochi, Masahiro M; Sutoh, Yoichi Y; Nakano, Shiori S; Oze, Isao I; Ito, Hidemi H; Yamaji, Taiki T; Sawada, Norie N; Iwagami, Masao M; Kadota, Aya A; Koyama, Teruhide T; Katsuura-Kamano, Sakurako S; Ikezaki, Hiroaki H; Tanaka, Keitaro K; Takezaki, Toshiro T; Imoto, Issei I; Suzuki, Midori M; Momozawa, Yukihide Y; Takeuchi, Kenji K; Narita, Akira A; Hozawa, Atsushi A; Kinoshita, Kengo K; Shimizu, Atsushi A; Tanno, Kozo K; Matsuo, Keitaro K; Tsugane, Shoichiro S; Wakai, Kenji K; Sasaki, Makoto M; Yamamoto, Masayuki M; Iwasaki, Motoki M

Publication Date: 2023-04-29

Variant appearance in text: rs857691

PubMed Link: 37120602

Variant Present in the following documents:

• Main text
• 41598_2023_Article_33966.pdf

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: SPTA1: L958L; rs857691

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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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: SPTA1: L958L; rs857691

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_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: SPTA1: L958L; rs857691

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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Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine

Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T

Publication Date: 2021-11-08

Variant appearance in text: SPTA1: L958L

PubMed Link: 34749812

Variant Present in the following documents:

• 13073_2021_975_MOESM2_ESM.xlsx, sheet 7

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: SPTA1: 2874G>A; L958L; rs857691

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: SPTA1: Leu958Leu; rs857691

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: SPTA1: L958L; rs857691

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: SPTA1: 2874G>A; Leu958=; rs857691

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: SPTA1: L958L; rs857691

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_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: SPTA1: 2874G>A

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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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: rs857691

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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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs857691

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_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: SPTA1: 2874G>A; rs857691

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.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: SPTA1: 2874G>A; L958L; rs857691

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 5
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study.

Diabetes

Loomis, Stephanie J SJ; Li, Man M; Maruthur, Nisa M NM; Baldridge, Abigail S AS; North, Kari E KE; Mei, Hao H; Morrison, Alanna A; Carson, April P AP; Pankow, James S JS; Boerwinkle, Eric E; Scharpf, Robert R; Rasmussen-Torvik, Laura J LJ; Coresh, Josef J; Duggal, Priya P; Köttgen, Anna A; Selvin, Elizabeth E

Publication Date: 2018-08

Variant appearance in text: rs857691

PubMed Link: 29844224

Variant Present in the following documents:

• Main text
• db171362.pdf

View BVdb publication page

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Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

Plos Medicine

Wheeler, Eleanor E; Leong, Aaron A; Liu, Ching-Ti CT; Hivert, Marie-France MF; Strawbridge, Rona J RJ; Podmore, Clara C; Li, Man M; Yao, Jie J; Sim, Xueling X; Hong, Jaeyoung J; Chu, Audrey Y AY; Zhang, Weihua W; Wang, Xu X; Chen, Peng P; Maruthur, Nisa M NM; Porneala, Bianca C BC; Sharp, Stephen J SJ; Jia, Yucheng Y; Kabagambe, Edmond K EK; Chang, Li-Ching LC; Chen, Wei-Min WM; Elks, Cathy E CE; Evans, Daniel S DS; Fan, Qiao Q; Giulianini, Franco F; Go, Min Jin MJ; Hottenga, Jouke-Jan JJ; Hu, Yao Y; Jackson, Anne U AU; Kanoni, Stavroula S; Kim, Young Jin YJ; Kleber, Marcus E ME; Ladenvall, Claes C; Lecoeur, Cecile C; Lim, Sing-Hui SH; Lu, Yingchang Y; Mahajan, Anubha A; Marzi, Carola C; Nalls, Mike A MA; Navarro, Pau P; Nolte, Ilja M IM; Rose, Lynda M LM; Rybin, Denis V DV; Sanna, Serena S; Shi, Yuan Y; Stram, Daniel O DO; Takeuchi, Fumihiko F; Tan, Shu Pei SP; van der Most, Peter J PJ; Van Vliet-Ostaptchouk, Jana V JV; Wong, Andrew A; Yengo, Loic L; Zhao, Wanting W; Goel, Anuj A; Martinez Larrad, Maria Teresa MT; Radke, Dörte D; Salo, Perttu P; Tanaka, Toshiko T; van Iperen, Erik P A EPA; Abecasis, Goncalo G; Afaq, Saima S; Alizadeh, Behrooz Z BZ; Bertoni, Alain G AG; Bonnefond, Amelie A; Böttcher, Yvonne Y; Bottinger, Erwin P EP; Campbell, Harry H; Carlson, Olga D OD; Chen, Chien-Hsiun CH; Cho, Yoon Shin YS; Garvey, W Timothy WT; Gieger, Christian C; Goodarzi, Mark O MO; Grallert, Harald H; Hamsten, Anders A; Hartman, Catharina A CA; Herder, Christian C; Hsiung, Chao Agnes CA; Huang, Jie J; Igase, Michiya M; Isono, Masato M; Katsuya, Tomohiro T; Khor, Chiea-Chuen CC; Kiess, Wieland W; Kohara, Katsuhiko K; Kovacs, Peter P; Lee, Juyoung J; Lee, Wen-Jane WJ; Lehne, Benjamin B; Li, Huaixing H; Liu, Jianjun J; Lobbens, Stephane S; Luan, Jian'an J; Lyssenko, Valeriya V; Meitinger, Thomas T; Miki, Tetsuro T; Miljkovic, Iva I; Moon, Sanghoon S; Mulas, Antonella A; Müller, Gabriele G; Müller-Nurasyid, Martina M; Nagaraja, Ramaiah R; Nauck, Matthias M; Pankow, James S JS; Polasek, Ozren O; Prokopenko, Inga I; Ramos, Paula S PS; Rasmussen-Torvik, Laura L; Rathmann, Wolfgang W; Rich, Stephen S SS; Robertson, Neil R NR; Roden, Michael M; Roussel, Ronan R; Rudan, Igor I; Scott, Robert A RA; Scott, William R WR; Sennblad, Bengt B; Siscovick, David S DS; Strauch, Konstantin K; Sun, Liang L; Swertz, Morris M; Tajuddin, Salman M SM; Taylor, Kent D KD; Teo, Yik-Ying YY; Tham, Yih Chung YC; Tönjes, Anke A; Wareham, Nicholas J NJ; Willemsen, Gonneke G; Wilsgaard, Tom T; Hingorani, Aroon D AD; , ; , ; , ; Egan, Josephine J; Ferrucci, Luigi L; Hovingh, G Kees GK; Jula, Antti A; Kivimaki, Mika M; Kumari, Meena M; Njølstad, Inger I; Palmer, Colin N A CNA; Serrano Ríos, Manuel M; Stumvoll, Michael M; Watkins, Hugh H; Aung, Tin T; Blüher, Matthias M; Boehnke, Michael M; Boomsma, Dorret I DI; Bornstein, Stefan R SR; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chen, Yduan-Tsong YT; Cheng, Ching-Yu CY; Cucca, Francesco F; de Geus, Eco J C EJC; Deloukas, Panos P; Evans, Michele K MK; Fornage, Myriam M; Friedlander, Yechiel Y; Froguel, Philippe P; Groop, Leif L; Gross, Myron D MD; Harris, Tamara B TB; Hayward, Caroline C; Heng, Chew-Kiat CK; Ingelsson, Erik E; Kato, Norihiro N; Kim, Bong-Jo BJ; Koh, Woon-Puay WP; Kooner, Jaspal S JS; Körner, Antje A; Kuh, Diana D; Kuusisto, Johanna J; Laakso, Markku M; Lin, Xu X; Liu, Yongmei Y; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; März, Winfried W; McCarthy, Mark I MI; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Pedersen, Nancy L NL; Pereira, Mark A MA; Peters, Annette A; Ridker, Paul M PM; Sabanayagam, Charumathi C; Sale, Michele M; Saleheen, Danish D; Saltevo, Juha J; Schwarz, Peter Eh PE; Sheu, Wayne H H WHH; Snieder, Harold H; Spector, Timothy D TD; Tabara, Yasuharu Y; Tuomilehto, Jaakko J; van Dam, Rob M RM; Wilson, James G JG; Wilson, James F JF; Wolffenbuttel, Bruce H R BHR; Wong, Tien Yin TY; Wu, Jer-Yuarn JY; Yuan, Jian-Min JM; Zonderman, Alan B AB; Soranzo, Nicole N; Guo, Xiuqing X; Roberts, David J DJ; Florez, Jose C JC; Sladek, Robert R; Dupuis, Josée J; Morris, Andrew P AP; Tai, E-Shyong ES; Selvin, Elizabeth E; Rotter, Jerome I JI; Langenberg, Claudia C; Barroso, Inês I; Meigs, James B JB

Publication Date: 2017-09

Variant appearance in text: rs857691

PubMed Link: 28898252

Variant Present in the following documents:

• Main text
• pmed.1002383.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: rs857691

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: SPTA1: L958L

PubMed Link: 27175599

Variant Present in the following documents:

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

View BVdb publication page

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Combined genetic effects of EGLN1 and VWF modulate thrombotic outcome in hypoxia revealed by Ayurgenomics approach.

Journal Of Translational Medicine

Aggarwal, Shilpi S; Gheware, Atish A; Agrawal, Anurag A; Ghosh, Saurabh S; Prasher, Bhavana B; Mukerji, Mitali M; ,

Publication Date: 2015-06-06

Variant appearance in text: rs857691

PubMed Link: 26047609

Variant Present in the following documents:

• Main text
• 12967_2015_Article_542.pdf

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: SPTA1: L958L; rs857691

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

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: SPTA1: L958L; rs857691

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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