Publications:

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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: rs1880676

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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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: rs1880676

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs1880676

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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Predictors of response to acetylcholinesterase inhibitors in dementia: A systematic review.

Frontiers In Neuroscience

Pozzi, Federico Emanuele FE; Conti, Elisa E; Appollonio, Ildebrando I; Ferrarese, Carlo C; Tremolizzo, Lucio L

Publication Date: 2022

Variant appearance in text: rs1880676

PubMed Link: 36203811

Variant Present in the following documents:

• Main text
• fnins-16-998224.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1880676

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.

Plos One

Tejada Moreno, Johanna Alexandra JA; Villegas Lanau, Andrés A; Madrigal Zapata, Lucia L; Baena Pineda, Ana Yulied AY; Velez Hernandez, Juan J; Campo Nieto, Omer O; Soto Ospina, Alejandro A; Araque Marín, Pedronel P; Rishishwar, Lavanya L; Norris, Emily T ET; Chande, Aroon T AT; Jordan, I King IK; Bedoya Berrio, Gabriel G

Publication Date: 2022

Variant appearance in text: rs1880676

PubMed Link: 35905044

Variant Present in the following documents:

• Main text
• pone.0269955.pdf

View BVdb publication page

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Auditory mismatch responses are differentially sensitive to changes in muscarinic acetylcholine versus dopamine receptor function.

Elife

Weber, Lilian Aline LA; Tomiello, Sara S; Schöbi, Dario D; Wellstein, Katharina V KV; Mueller, Daniel D; Iglesias, Sandra S; Stephan, Klaas Enno KE

Publication Date: 2022-05-03

Variant appearance in text: rs1880676

PubMed Link: 35502897

Variant Present in the following documents:

• Main text

View BVdb publication page

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ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study.

Brain And Behavior

Liu, Wenmiao W; Xu, Lulu L; Zhang, Cheng C; Shen, Lu L; Dong, Jicheng J; Zhang, Han H; Liu, Shiguo S; Che, Fengyuan F; Zheng, Xueping X

Publication Date: 2022-04

Variant appearance in text: rs1880676

PubMed Link: 35307981

Variant Present in the following documents:

• Main text
• BRB3-12-e2539.pdf

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: rs1880676

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Influence of a genetic variant of CHAT gene over the profile of plasma soluble ChAT in Alzheimer disease.

Genetics And Molecular Biology

Rocha-Dias, Patricia Fernanda PF; Simao-Silva, Daiane Priscila DP; Silva, Saritha Suellen Lopes da SSLD; Piovezan, Mauro Roberto MR; Souza, Ricardo Krause M RKM; Darreh-Shori, Taher T; Furtado-Alle, Lupe L; Souza, Ricardo Lehtonen Rodrigues RLR

Publication Date: 2020

Variant appearance in text: rs1880676

PubMed Link: 33306773

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-43-4-e20190404.pdf

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: rs1880676

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.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: rs1880676

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: rs1880676

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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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs1880676

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

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: rs1880676

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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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: rs1880676

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 2
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer's disease in the Czech population.

Journal Of Biomedical Science

Hálová, Alice A; Janoutová, Jana J; Ewerlingová, Laura L; Janout, Vladimír V; Bonczek, Ondřej O; Zeman, Tomáš T; Gerguri, Tereza T; Balcar, Vladimir J VJ; Šerý, Omar O

Publication Date: 2018-05-14

Variant appearance in text: rs1880676

PubMed Link: 29759072

Variant Present in the following documents:

• 12929_2018_Article_444.pdf

View BVdb publication page

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Genetic Association of CHAT rs3810950 and rs2177369 Polymorphisms with the Risk of Alzheimer's Disease: A Meta-Analysis.

Biomed Research International

Liu, Yong Y; Chen, Qicong Q; Liu, Xu X; Dou, Mengmeng M; Li, Silu S; Zhou, Jiahui J; Liu, Hong H; Wu, Yongfu Y; Huang, Zunnan Z

Publication Date: 2016

Variant appearance in text: rs1880676

PubMed Link: 27597977

Variant Present in the following documents:

• Main text
• BMRI2016-9418163.pdf

View BVdb publication page

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Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis.

Plos One

Yuan, Hai H; Xia, Qing Q; Ling, Kang K; Wang, Xiaotong X; Wang, Xiumin X; Du, Xunping X

Publication Date: 2016

Variant appearance in text: rs1880676

PubMed Link: 27390868

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms of CHAT but not TFAM or VR22 are Associated with Alzheimer Disease Risk.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Gao, Lili L; Zhang, Yan Y; Deng, Jinghua J; Yu, Wenbing W; Yu, Yunxia Y

Publication Date: 2016-06-07

Variant appearance in text: rs1880676

PubMed Link: 27272392

Variant Present in the following documents:

• Main text
• medscimonit-22-1924.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs1880676

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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: rs1880676

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, 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: rs1880676

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1
• srep09124-s3.xls, sheet 1

View BVdb publication page

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The contribution of rare and common variants in 30 genes to risk nicotine dependence.

Molecular Psychiatry

Yang, J J; Wang, S S; Yang, Z Z; Hodgkinson, C A CA; Iarikova, P P; Ma, J Z JZ; Payne, T J TJ; Goldman, D D; Li, M D MD

Publication Date: 2015-11

Variant appearance in text: rs1880676

PubMed Link: 25450229

Variant Present in the following documents:

• Main text
• nihms634433.pdf

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: rs1880676

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj

O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ

Publication Date: 2013

Variant appearance in text: rs1880676

PubMed Link: 24109560

Variant Present in the following documents:

• Main text
• peerj-01-177-s013.xlsx, sheet 1
• peerj-01-177-s012.xlsx, sheet 1

View BVdb publication page

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Determination of allelic expression of SNP rs1880676 in choline acetyltransferase gene in HeLa cells.

Neuroscience Letters

Yang, Zhongli Z; Lin, Chen C; Wang, Shaolin S; Seneviratne, Chamindi C; Wang, Jundong J; Li, Ming D MD

Publication Date: 2013-10-25

Variant appearance in text: rs1880676

PubMed Link: 24076142

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Plos One

Liu, Xiaoyan X; Yue, Chunxian C; Xu, Zhi Z; Shu, Hao H; Pu, Mengjia M; Yu, Hui H; Shi, Yongmei Y; Zhuang, Liying L; Xu, Xiaohui X; Zhang, Zhijun Z

Publication Date: 2012

Variant appearance in text: rs1880676

PubMed Link: 22911757

Variant Present in the following documents:

• Main text
• pone.0041198.pdf

View BVdb publication page

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Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers.

Human Genetics

Wei, Jinxue J; Ma, Jennie Z JZ; Payne, Thomas J TJ; Cui, Wenyan W; Ray, Riju R; Mitra, Nandita N; Lerman, Caryn C; Li, Ming D MD

Publication Date: 2010-06

Variant appearance in text: rs1880676

PubMed Link: 20383528

Variant Present in the following documents:

• Main text

View BVdb publication page

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Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Ray, Riju R; Mitra, Nandita N; Baldwin, Don D; Guo, Mengye M; Patterson, Freda F; Heitjan, Daniel F DF; Jepson, Christopher C; Wileyto, E Paul EP; Wei, Jinxue J; Payne, Thomas T; Ma, Jennie Z JZ; Li, Ming D MD; Lerman, Caryn C

Publication Date: 2010-05

Variant appearance in text: rs1880676

PubMed Link: 20147892

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of pharmacogenetic markers in smoking cessation therapy.

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

Heitjan, Daniel F DF; Guo, Mengye M; Ray, Riju R; Wileyto, E Paul EP; Epstein, Leonard H LH; Lerman, Caryn C

Publication Date: 2008-09-05

Variant appearance in text: rs1880676

PubMed Link: 18165968

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10.

American Journal Of Hypertension

Morrison, Alanna C AC; Boerwinkle, Eric E; Turner, Stephen T ST; Ferrell, Robert E RE

Publication Date: 2008-01

Variant appearance in text: rs1880676

PubMed Link: 18091754

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA.

Human Brain Mapping

Liu, Jingyu J; Pearlson, Godfrey G; Windemuth, Andreas A; Ruano, Gualberto G; Perrone-Bizzozero, Nora I NI; Calhoun, Vince V

Publication Date: 2009-01

Variant appearance in text: rs1880676

PubMed Link: 18072279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.

Neurobiology Of Aging

Ozturk, Ayla A; DeKosky, Steven T ST; Kamboh, M Ilyas MI

Publication Date: 2006-10

Variant appearance in text: rs1880676

PubMed Link: 16223550

Variant Present in the following documents:

• Main text

View BVdb publication page

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