Publications:

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Role of Sirtuin 3 in Degenerative Diseases of the Central Nervous System.

Biomolecules

Zhang, Haofuzi H; Dai, Shuhui S; Yang, Yuefan Y; Wei, Jialiang J; Li, Xin X; Luo, Peng P; Jiang, Xiaofan X

Publication Date: 2023-04-24

Variant appearance in text: rs10410544

PubMed Link: 37238605

Variant Present in the following documents:

• biomolecules-13-00735.pdf

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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: rs10410544

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Impact of cognition-related single nucleotide polymorphisms on brain imaging phenotype in Parkinson's disease.

Neural Regeneration Research

Shen, Ting T; Pu, Jia-Li JL; Jiang, Ya-Si YS; Yue, Yu-Mei YM; He, Ting-Ting TT; Qu, Bo-Yi BY; Zhao, Shuai S; Yan, Ya-Ping YP; Lai, Hsin-Yi HY; Zhang, Bao-Rong BR

Publication Date: 2023-05

Variant appearance in text: rs10410544

PubMed Link: 36255006

Variant Present in the following documents:

• Main text

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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: rs10410544

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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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: rs10410544

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

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Neurotrophin Crosstalk in the Etiology and Treatment of Neuropsychiatric and Neurodegenerative Disease.

Frontiers In Molecular Neuroscience

Joshi, Rajeev R; Salton, Stephen R J SRJ

Publication Date: 2022

Variant appearance in text: rs10410544

PubMed Link: 35909451

Variant Present in the following documents:

• fnmol-15-932497.pdf

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Personalized Management and Treatment of Alzheimer's Disease.

Life (Basel, Switzerland)

Cacabelos, Ramón R; Naidoo, Vinogran V; Martínez-Iglesias, Olaia O; Corzo, Lola L; Cacabelos, Natalia N; Pego, Rocío R; Carril, Juan C JC

Publication Date: 2022-03-21

Variant appearance in text: rs10410544

PubMed Link: 35330211

Variant Present in the following documents:

• Main text
• life-12-00460.pdf

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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: SIRT2: 64-1025A>G; rs10410544

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Gene variants and expression changes of SIRT1 and SIRT6 in peripheral blood are associated with Parkinson's disease.

Scientific Reports

Maszlag-Török, Rita R; Boros, Fanni A FA; Vécsei, László L; Klivényi, Péter P

Publication Date: 2021-05-21

Variant appearance in text: rs10410544

PubMed Link: 34021216

Variant Present in the following documents:

• Main text
• 41598_2021_Article_90059.pdf

View BVdb publication page

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SIRT1 and SIRT2 Modulators: Potential Anti-Inflammatory Treatment for Depression?

Biomolecules

Zhang, Yuqing Y; Anoopkumar-Dukie, Shailendra S; Davey, Andrew Keith AK

Publication Date: 2021-02-25

Variant appearance in text: rs10410544

PubMed Link: 33669121

Variant Present in the following documents:

• Main text

View BVdb publication page

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Overexpression of sirtuin 2 and its association with prognosis in acute ischemic stroke patients.

Journal Of Clinical Laboratory Analysis

Zhang, Yun Y; Yan, Qianfeng Q; Zhang, Yan Y

Publication Date: 2021-04

Variant appearance in text: rs10410544

PubMed Link: 33616302

Variant Present in the following documents:

• Main text
• JCLA-35-e23707.pdf

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: SIRT2: 64-1025A>G; rs10410544

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs10410544

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Correlations Between SIRT Genetic Polymorphisms and Postpartum Depressive Symptoms in Chinese Parturients Who Had Undergone Cesarean Section.

Neuropsychiatric Disease And Treatment

Luo, Shi-Chao SC; Duan, Kai-Ming KM; Fang, Chao C; Li, Dan-Yang DY; Zheng, Shan-Shan SS; Yang, Si-Qi SQ; Yang, Shu-Ting ST; Yang, Mi M; Zhang, Liang-Bin LB; Wang, Sai-Ying SY

Publication Date: 2020

Variant appearance in text: rs10410544

PubMed Link: 33380799

Variant Present in the following documents:

• Main text
• ndt-16-3225.pdf

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Sirtuin 3 mRNA Expression is Downregulated in the Brain Tissues of Alzheimer's Disease Patients: A Bioinformatic and Data Mining Approach.

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

Song, Shuang S; Li, Bin B; Jia, Zhen Z; Guo, Li L

Publication Date: 2020-08-04

Variant appearance in text: rs10410544

PubMed Link: 32747616

Variant Present in the following documents:

• Main text
• medscimonit-26-e923547.pdf

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Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.

International Journal Of Molecular Sciences

Cacabelos, Ramon R

Publication Date: 2020-04-26

Variant appearance in text: rs10410544

PubMed Link: 32357528

Variant Present in the following documents:

• Main text
• ijms-21-03059.pdf

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Rs2015 Polymorphism in miRNA Target Site of Sirtuin2 Gene Is Associated with the Risk of Parkinson's Disease in Chinese Han Population.

Biomed Research International

Chen, Xiongjin X; Mai, Hui H; Chen, Xiaoting X; Cai, Yujie Y; Cheng, Qiufei Q; Chen, Xiaoyi X; Li, Xiaohui X; Fan, Weihao W; Tang, Pei P; Ou, Mingqian M; Yang, Jingqi J; Chen, Yusen Y; Cui, Lili L

Publication Date: 2019

Variant appearance in text: rs10410544

PubMed Link: 31214610

Variant Present in the following documents:

• Main text
• BMRI2019-1498034.pdf

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Sirtuins in Alzheimer's Disease: SIRT2-Related GenoPhenotypes and Implications for PharmacoEpiGenetics.

International Journal Of Molecular Sciences

Cacabelos, Ramón R; Carril, Juan C JC; Cacabelos, Natalia N; Kazantsev, Aleksey G AG; Vostrov, Alex V AV; Corzo, Lola L; Cacabelos, Pablo P; Goldgaber, Dmitry D

Publication Date: 2019-03-12

Variant appearance in text: rs10410544

PubMed Link: 30871086

Variant Present in the following documents:

• Main text
• ijms-20-01249.pdf

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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: SIRT2: 64-1025A>G; rs10410544

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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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: rs10410544

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs10410544

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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A variant in SIRT2 gene 3'-UTR is associated with susceptibility to colorectal cancer.

Oncotarget

Yang, Yong Y; Ding, Jie J; Gao, Zhi-Gang ZG; Wang, Zhen-Jun ZJ

Publication Date: 2017-06-20

Variant appearance in text: rs10410544

PubMed Link: 28514749

Variant Present in the following documents:

• Main text
• oncotarget-08-41021.pdf

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Functional genetic variants within the SIRT2 gene promoter in acute myocardial infarction.

Plos One

Yang, Wentao W; Gao, Feng F; Zhang, Pei P; Pang, Shuchao S; Cui, Yinghua Y; Liu, Lixin L; Wei, Guanghe G; Yan, Bo B

Publication Date: 2017

Variant appearance in text: rs10410544

PubMed Link: 28445509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sirtuins and Their Roles in Brain Aging and Neurodegenerative Disorders.

Neurochemical Research

Jęśko, Henryk H; Wencel, Przemysław P; Strosznajder, Robert P RP; Strosznajder, Joanna B JB

Publication Date: 2017-03

Variant appearance in text: rs10410544

PubMed Link: 27882448

Variant Present in the following documents:

• 11064_2016_Article_2110.pdf

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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: rs10410544

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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The role of citicoline in cognitive impairment: pharmacological characteristics, possible advantages, and doubts for an old drug with new perspectives.

Clinical Interventions In Aging

Gareri, Pietro P; Castagna, Alberto A; Cotroneo, Antonino Maria AM; Putignano, Salvatore S; De Sarro, Giovambattista G; Bruni, Amalia Cecilia AC

Publication Date: 2015

Variant appearance in text: rs10410544

PubMed Link: 26366063

Variant Present in the following documents:

• Main text

View BVdb publication page

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The sirtuin-2 inhibitor AK7 is neuroprotective in models of Parkinson's disease but not amyotrophic lateral sclerosis and cerebral ischemia.

Plos One

Chen, Xiqun X; Wales, Pauline P; Quinti, Luisa L; Zuo, Fuxing F; Moniot, Sébastien S; Herisson, Fanny F; Rauf, Nazifa Abdul NA; Wang, Hua H; Silverman, Richard B RB; Ayata, Cenk C; Maxwell, Michelle M MM; Steegborn, Clemens C; Schwarzschild, Michael A MA; Outeiro, Tiago F TF; Kazantsev, Aleksey G AG

Publication Date: 2015

Variant appearance in text: rs10410544

PubMed Link: 25608039

Variant Present in the following documents:

• Main text
• pone.0116919.pdf

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Behavioral and psychological symptoms in Alzheimer's disease.

Biomed Research International

Li, Xiao-Ling XL; Hu, Nan N; Tan, Meng-Shan MS; Yu, Jin-Tai JT; Tan, Lan L

Publication Date: 2014

Variant appearance in text: rs10410544

PubMed Link: 25133184

Variant Present in the following documents:

• Main text
• BMRI2014-927804.pdf

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The role of sirtuins in Alzheimer's disease.

Frontiers In Aging Neuroscience

Lalla, Rakhee R; Donmez, Gizem G

Publication Date: 2013

Variant appearance in text: rs10410544

PubMed Link: 23576985

Variant Present in the following documents:

• Main text
• fnagi-05-00016.pdf

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