Publications:

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A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia.

Frontiers In Molecular Biosciences

Rodden, Layne N LN; Rummey, Christian C; Dong, Yi Na YN; Lagedrost, Sarah S; Regner, Sean S; Brocht, Alicia A; Bushara, Khalaf K; Delatycki, Martin B MB; Gomez, Christopher M CM; Mathews, Katherine K; Murray, Sarah S; Perlman, Susan S; Ravina, Bernard B; Subramony, S H SH; Wilmot, George G; Zesiewicz, Theresa T; Bolotta, Alessandra A; Domissy, Alain A; Jespersen, Christine C; Ji, Baohu B; Soragni, Elisabetta E; Gottesfeld, Joel M JM; Lynch, David R DR

Publication Date: 2022

Variant appearance in text: rs352493

PubMed Link: 36133907

Variant Present in the following documents:

• Main text
• fmolb-09-933788.pdf

View BVdb publication page

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Association of Sirtuin Gene Polymorphisms with Susceptibility to Coronary Artery Disease in a North Chinese Population.

Biomed Research International

Song, Xingfa X; Wang, Haidong H; Wang, Chao C; Ji, Guangquan G; Jiang, Pei P; Liang, Donglou D; Wang, Xiaojing X

Publication Date: 2022

Variant appearance in text: rs352493

PubMed Link: 35224092

Variant Present in the following documents:

• BMRI2022-4294008.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: rs352493

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: rs352493

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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SIRT6 in Senescence and Aging-Related Cardiovascular Diseases.

Frontiers In Cell And Developmental Biology

Li, Xiaokang X; Liu, Lin L; Li, Tian T; Liu, Manling M; Wang, Yishi Y; Ma, Heng H; Mu, Nan N; Wang, Haiyan H

Publication Date: 2021

Variant appearance in text: rs352493

PubMed Link: 33855020

Variant Present in the following documents:

• Main text
• fcell-09-641315.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: rs352493

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs352493

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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: rs352493

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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SIRT6 polymorphism rs117385980 is associated with longevity and healthy aging in Finnish men.

Bmc Medical Genetics

Hirvonen, Katariina K; Laivuori, Hannele H; Lahti, Jari J; Strandberg, Timo T; Eriksson, Johan G JG; Hackman, Peter P

Publication Date: 2017-04-11

Variant appearance in text: rs352493

PubMed Link: 28399814

Variant Present in the following documents:

• Main text
• 12881_2017_Article_401.pdf

View BVdb publication page

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SIRT6 protects against endothelial dysfunction and atherosclerosis in mice.

Aging

Xu, Suowen S; Yin, Meimei M; Koroleva, Marina M; Mastrangelo, Michael A MA; Zhang, Wenbo W; Bai, Peter P; Little, Peter J PJ; Jin, Zheng Gen ZG

Publication Date: 2016-05

Variant appearance in text: rs352493

PubMed Link: 27249230

Variant Present in the following documents:

• Main text

View BVdb publication page

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Two tagSNPs rs352493 and rs3760908 within SIRT6 Gene Are Associated with the Severity of Coronary Artery Disease in a Chinese Han Population.

Disease Markers

Tang, Sai-sai SS; Xu, Shun S; Cheng, Jie J; Cai, Meng-yun MY; Chen, Lin L; Liang, Li-li LL; Yang, Xi-li XL; Chen, Can C; Liu, Xin-guang XG; Xiong, Xing-dong XD

Publication Date: 2016

Variant appearance in text: rs352493

PubMed Link: 27118880

Variant Present in the following documents:

• Main text
• DM2016-1628041.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: rs352493

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Common genetic variants in epigenetic machinery genes and risk of upper gastrointestinal cancers.

International Journal Of Epidemiology

Sung, Hyuna H; Yang, Howard H HH; Zhang, Han H; Yang, Qi Q; Hu, Nan N; Tang, Ze-Zhong ZZ; Su, Hua H; Wang, Lemin L; Wang, Chaoyu C; Ding, Ti T; Fan, Jin-Hu JH; Qiao, You-Lin YL; Wheeler, William W; Giffen, Carol C; Burdett, Laurie L; Wang, Zhaoming Z; Lee, Maxwell P MP; Chanock, Stephen J SJ; Dawsey, Sanford M SM; Freedman, Neal D ND; Abnet, Christian C CC; Goldstein, Alisa M AM; Yu, Kai K; Taylor, Philip R PR; Hyland, Paula L PL

Publication Date: 2015-08

Variant appearance in text: rs352493

PubMed Link: 25921222

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs352493

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.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: rs352493

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 2
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 8
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 5
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11

View BVdb publication page

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Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.

Frontiers In Genetics

Sebastiani, Paola P; Riva, Alberto A; Montano, Monty M; Pham, Phillip P; Torkamani, Ali A; Scherba, Eugene E; Benson, Gary G; Milton, Jacqueline N JN; Baldwin, Clinton T CT; Andersen, Stacy S; Schork, Nicholas J NJ; Steinberg, Martin H MH; Perls, Thomas T TT

Publication Date: 2011

Variant appearance in text: rs352493

PubMed Link: 22303384

Variant Present in the following documents:

• Main text
• fgene-02-00090.pdf

View BVdb publication page

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