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: rs1801249

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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Agricultural Use of Copper and Its Link to Alzheimer's Disease.

Biomolecules

Coelho, Fábio C FC; Squitti, Rosanna R; Ventriglia, Mariacarla M; Cerchiaro, Giselle G; Daher, João P JP; Rocha, Jaídson G JG; Rongioletti, Mauro C A MCA; Moonen, Anna-Camilla AC

Publication Date: 2020-06-12

Variant appearance in text: rs1801249

PubMed Link: 32545484

Variant Present in the following documents:

• Main text
• biomolecules-10-00897.pdf

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: rs1801249

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

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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: rs1801249

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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Gene expression and single nucleotide polymorphism of ATP7B are associated with platinum-based chemotherapy response in non-small cell lung cancer patients.

Journal Of Cancer

Li, Yue-Qin YQ; Chen, Juan J; Yin, Ji-Ye JY; Liu, Zhao-Qian ZQ; Li, Xiang-Ping XP

Publication Date: 2018

Variant appearance in text: rs1801249

PubMed Link: 30310510

Variant Present in the following documents:

• Main text
• jcav09p3532.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: rs1801249

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Combining omics data to identify genes associated with allergic rhinitis.

Clinical Epigenetics

Morin, Andréanne A; Laviolette, Michel M; Pastinen, Tomi T; Boulet, Louis-Philippe LP; Laprise, Catherine C

Publication Date: 2017

Variant appearance in text: rs1801249

PubMed Link: 28149331

Variant Present in the following documents:

• Main text
• 13148_2017_Article_310.pdf

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: rs1801249

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs1801249

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs1801249

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 12
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 9
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 7
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs1801249

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

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Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.

Plos One

Gu, Shaojuan S; Yang, Huarong H; Qi, Yong Y; Deng, Xiong X; Zhang, Le L; Guo, Yi Y; Huang, Qing Q; Li, Jing J; Shi, Xiaoliu X; Song, Zhi Z; Deng, Hao H

Publication Date: 2013

Variant appearance in text: rs1801249

PubMed Link: 23843956

Variant Present in the following documents:

• Main text
• pone.0066526.pdf

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Linkage disequilibrium and haplotype analysis of the ATP7B gene in Alzheimer's disease.

Rejuvenation Research

Squitti, Rosanna R; Polimanti, Renato R; Bucossi, Serena S; Ventriglia, Mariacarla M; Mariani, Stefania S; Manfellotto, Dario D; Vernieri, Fabrizio F; Cassetta, Emanuele E; Ursini, Francesca F; Rossini, Paolo Maria PM

Publication Date: 2013-02

Variant appearance in text: rs1801249

PubMed Link: 22950421

Variant Present in the following documents:

• Main text

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A Novel Splice-site Allelic Variant is Responsible for Wilson Disease in an Omani Family.

Sultan Qaboos University Medical Journal

Al-Tobi, Mohammed M; Kashoob, Masoud M; Joshi, Surendranath S; Bayoumi, Riad R

Publication Date: 2011-08

Variant appearance in text: rs1801249

PubMed Link: 22087377

Variant Present in the following documents:

• Main text

View BVdb publication page

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