SOD1 c.357+474C>T

Variant ID: 21-33040162-C-T

NM_000454.4(SOD1):c.357+474C>T

This variant was identified in 23 publications

View GRCh38 version.




Publications:


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: rs1041740
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Oxidative Stress Management in Cardiorenal Diseases: Focus on Novel Antidiabetic Agents, Finerenone, and Melatonin.

Life (Basel, Switzerland)
Theofilis, Panagiotis P; Vordoni, Aikaterini A; Kalaitzidis, Rigas G RG
Publication Date: 2022-10-20

Variant appearance in text: rs1041740
PubMed Link: 36295098
Variant Present in the following documents:
  • Main text
  • life-12-01663.pdf
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Variability of the Genes Involved in the Cellular Redox Status and Their Implication in Drug Hypersensitivity Reactions.

Antioxidants (Basel, Switzerland)
Ayuso, Pedro P; García-Martín, Elena E; Agúndez, José A G JAG
Publication Date: 2021-02-15

Variant appearance in text: rs1041740
PubMed Link: 33672092
Variant Present in the following documents:
  • Main text
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Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.

Npj Genomic Medicine
Henden, Lyndal L; Twine, Natalie A NA; Szul, Piotr P; McCann, Emily P EP; Nicholson, Garth A GA; Rowe, Dominic B DB; Kiernan, Matthew C MC; Bauer, Denis C DC; Blair, Ian P IP; Williams, Kelly L KL
Publication Date: 2020

Variant appearance in text: rs1041740
PubMed Link: 32789025
Variant Present in the following documents:
  • 41525_2020_139_MOESM1_ESM.pdf
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Genetic polymorphisms of superoxide dismutase 1 are associated with the serum lipid profiles of Han Chinese adults in a sexually dimorphic manner.

Plos One
Xu, Ping P; Zhu, Yumei Y; Liang, Xiongshun X; Gong, Chunmei C; Xu, Yuanfei Y; Huang, Changhua C; Liu, Xiao-Li XL; Zhou, Ji-Chang JC
Publication Date: 2020

Variant appearance in text: rs1041740
PubMed Link: 32559230
Variant Present in the following documents:
  • Main text
  • pone.0234716.pdf
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Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population.

Scientific Reports
Corredor, Zuray Z; Filho, Miguel Inácio da Silva MIDS; Rodríguez-Ribera, Lara L; Velázquez, Antonia A; Hernández, Alba A; Catalano, Calogerina C; Hemminki, Kari K; Coll, Elisabeth E; Silva, Irene I; Diaz, Juan Manuel JM; Ballarin, José J; Vallés Prats, Martí M; Calabia Martínez, Jordi J; Försti, Asta A; Marcos, Ricard R; Pastor, Susana S
Publication Date: 2020-01-10

Variant appearance in text: rs1041740
PubMed Link: 31924810
Variant Present in the following documents:
  • Main text
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Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?

Frontiers In Genetics
Garcia, Cecilia C; Vidal-Taboada, Jose Manuel JM; Syriani, Enrique E; Salvado, Maria M; Morales, Miguel M; Gamez, Josep J
Publication Date: 2019

Variant appearance in text: rs1041740
PubMed Link: 31781168
Variant Present in the following documents:
  • Main text
  • fgene-10-01109.pdf
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Associations between superoxide dismutase, malondialdehyde and all-cause mortality in older adults: a community-based cohort study.

Bmc Geriatrics
Mao, Chen C; Yuan, Jin-Qiu JQ; Lv, Yue-Bin YB; Gao, Xiang X; Yin, Zhao-Xue ZX; Kraus, Virginia Byers VB; Luo, Jie-Si JS; Chei, Choy-Lye CL; Matchar, David Bruce DB; Zeng, Yi Y; Shi, Xiao-Ming XM
Publication Date: 2019-04-15

Variant appearance in text: rs1041740
PubMed Link: 30987591
Variant Present in the following documents:
  • Main text
  • 12877_2019_Article_1109.pdf
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Interactions between plasma copper concentrations and SOD1 gene polymorphism for impaired glucose regulation and type 2 diabetes.

Redox Biology
Yin, Jiawei J; Wang, Xiaoqian X; Li, Shuzhen S; Zhu, Yalun Y; Chen, Sijing S; Li, Peiyun P; Luo, Cheng C; Huang, Yue Y; Li, Xiaoqin X; Hu, Xueting X; Yang, Wei W; Bao, Wei W; Shan, Zhilei Z; Liu, Liegang L
Publication Date: 2019-06

Variant appearance in text: rs1041740
PubMed Link: 30909159
Variant Present in the following documents:
  • Main text
  • main.pdf
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Predictive value of telomere length on outcome following acute myocardial infarction: evidence for contrasting effects of vascular vs. blood oxidative stress.

European Heart Journal
Margaritis, Marios M; Sanna, Fabio F; Lazaros, George G; Akoumianakis, Ioannis I; Patel, Sheena S; Antonopoulos, Alexios S AS; Duke, Chloe C; Herdman, Laura L; Psarros, Costas C; Oikonomou, Evangelos K EK; Shirodaria, Cheerag C; Petrou, Mario M; Sayeed, Rana R; Krasopoulos, George G; Lee, Regent R; Tousoulis, Dimitris D; Channon, Keith M KM; Antoniades, Charalambos C
Publication Date: 2017-11-01

Variant appearance in text: rs1041740
PubMed Link: 28444175
Variant Present in the following documents:
  • ehx177_supplementary_files_r3.pdf
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The Impact of Superoxide Dismutase-1 Genetic Variation on Cardiovascular and All-Cause Mortality in a Prospective Cohort Study: The Yamagata (Takahata) Study.

Plos One
Otaki, Yoichiro Y; Watanabe, Tetsu T; Nishiyama, Satoshi S; Takahashi, Hiroki H; Arimoto, Takanori T; Shishido, Tetsuro T; Miyamoto, Takuya T; Konta, Tsuneo T; Shibata, Yoko Y; Sato, Hidenori H; Kawasaki, Ryo R; Daimon, Makoto M; Ueno, Yoshiyuki Y; Kato, Takeo T; Kayama, Takamasa T; Kubota, Isao I
Publication Date: 2016

Variant appearance in text: rs1041740
PubMed Link: 27755600
Variant Present in the following documents:
  • Main text
  • pone.0164732.pdf
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Polymorphisms in DNA repair and oxidative stress genes associated with pre-treatment cognitive function in breast cancer survivors: an exploratory study.

Springerplus
Koleck, Theresa A TA; Bender, Catherine M CM; Sereika, Susan M SM; Brufsky, Adam M AM; Lembersky, Barry C BC; McAuliffe, Priscilla F PF; Puhalla, Shannon L SL; Rastogi, Priya P; Conley, Yvette P YP
Publication Date: 2016

Variant appearance in text: rs1041740
PubMed Link: 27099827
Variant Present in the following documents:
  • Main text
  • 40064_2016_Article_2061.pdf
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Oxidative Stress Genes, Antioxidants and Coronary Artery Disease in Type 2 Diabetes Mellitus.

Cardiovascular & Hematological Agents In Medicinal Chemistry
Tibaut, Miha M; Petrovič, Daniel D
Publication Date: 2016

Variant appearance in text: rs1041740
PubMed Link: 27052028
Variant Present in the following documents:
  • Main text
  • CHAMC-14-23.pdf
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Candidate genes for Alzheimer's disease are associated with individual differences in plasma levels of beta amyloid peptides in adults with Down syndrome.

Neurobiology Of Aging
Schupf, Nicole N; Lee, Annie A; Park, Naeun N; Dang, Lam-Ha LH; Pang, Deborah D; Yale, Alexander A; Oh, David Kyung-Taek DK; Krinsky-McHale, Sharon J SJ; Jenkins, Edmund C EC; Luchsinger, José A JA; Zigman, Warren B WB; Silverman, Wayne W; Tycko, Benjamin B; Kisselev, Sergey S; Clark, Lorraine L; Lee, Joseph H JH
Publication Date: 2015-10

Variant appearance in text: rs1041740
PubMed Link: 26166206
Variant Present in the following documents:
  • Main text
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Association between maternal micronutrient status, oxidative stress, and common genetic variants in antioxidant enzymes at 15 weeks׳ gestation in nulliparous women who subsequently develop preeclampsia.

Free Radical Biology & Medicine
Mistry, Hiten D HD; Gill, Carolyn A CA; Kurlak, Lesia O LO; Seed, Paul T PT; Hesketh, John E JE; Méplan, Catherine C; Schomburg, Lutz L; Chappell, Lucy C LC; Morgan, Linda L; Poston, Lucilla L; ,
Publication Date: 2015-01

Variant appearance in text: rs1041740
PubMed Link: 25463281
Variant Present in the following documents:
  • Main text
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Effects of polymorphisms in alcohol metabolism and oxidative stress genes on survival from head and neck cancer.

Cancer Epidemiology
Hakenewerth, Anne M AM; Millikan, Robert C RC; Rusyn, Ivan I; Herring, Amy H AH; Weissler, Mark C MC; Funkhouser, William K WK; North, Kari E KE; Barnholtz-Sloan, Jill S JS; Olshan, Andrew F AF
Publication Date: 2013-08

Variant appearance in text: rs1041740
PubMed Link: 23632049
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of copper-zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) genes with nonsyndromic myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Kase, Benjamin A BA; Northrup, Hope H; Morrison, Alanna C AC; Davidson, Christina M CM; Goiffon, Amanda M AM; Fletcher, Jack M JM; Ostermaier, Kathryn K KK; Tyerman, Gayle H GH; Au, Kit Sing KS
Publication Date: 2012-10

Variant appearance in text: rs1041740
PubMed Link: 22972774
Variant Present in the following documents:
  • Main text
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Polymorphism in glutamate cysteine ligase catalytic subunit (GCLC) is associated with sulfamethoxazole-induced hypersensitivity in HIV/AIDS patients.

Bmc Medical Genomics
Wang, Danxin D; Curtis, Amanda A; Papp, Audrey C AC; Koletar, Susan L SL; Para, Michael F MF
Publication Date: 2012-07-23

Variant appearance in text: rs1041740
PubMed Link: 22824134
Variant Present in the following documents:
  • Main text
  • 1755-8794-5-32.pdf
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Common genetic variants in metabolism and detoxification pathways and the risk of papillary thyroid cancer.

Endocrine-Related Cancer
Aschebrook-Kilfoy, Briseis B; Neta, Gila G; Brenner, Alina V AV; Hutchinson, Amy A; Pfeiffer, Ruth M RM; Sturgis, Erich M EM; Xu, Li L; Wheeler, William W; Doody, Michele M MM; Chanock, Stephen J SJ; Sigurdson, Alice J AJ
Publication Date: 2012-06

Variant appearance in text: rs1041740
PubMed Link: 22389382
Variant Present in the following documents:
  • Main text
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Joint effects of alcohol consumption and polymorphisms in alcohol and oxidative stress metabolism genes on risk of head and neck cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Hakenewerth, Anne M AM; Millikan, Robert C RC; Rusyn, Ivan I; Herring, Amy H AH; North, Kari E KE; Barnholtz-Sloan, Jill S JS; Funkhouser, William F WF; Weissler, Mark C MC; Olshan, Andrew F AF
Publication Date: 2011-11

Variant appearance in text: rs1041740
PubMed Link: 21940907
Variant Present in the following documents:
  • Main text
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Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Han, Xuesong X; Zheng, Tongzhang T; Lan, Qing Q; Zhang, Yaqun Y; Kilfoy, Briseis A BA; Qin, Qin Q; Rothman, Nathaniel N; Zahm, Shelia H SH; Holford, Theodore R TR; Leaderer, Brian B; Zhang, Yawei Y
Publication Date: 2009-05

Variant appearance in text: rs1041740
PubMed Link: 19423521
Variant Present in the following documents:
  • Main text
View BVdb publication page



Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Human Mutation
Arnold, Stacey S; Pelet, Anna A; Amiel, Jeanne J; Borrego, Salud S; Hofstra, Robert R; Tam, Paul P; Ceccherini, Isabella I; Lyonnet, Stanislas S; Sherman, Stephanie S; Chakravarti, Aravinda A
Publication Date: 2009-05

Variant appearance in text: rs1041740
PubMed Link: 19306335
Variant Present in the following documents:
  • Main text
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Multiple superoxide dismutase 1/splicing factor serine alanine 15 variants are associated with the development and progression of diabetic nephropathy: the Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications Genetics study.

Diabetes
Al-Kateb, Hussam H; Boright, Andrew P AP; Mirea, Lucia L; Xie, Xinlei X; Sutradhar, Rinku R; Mowjoodi, Alireza A; Bharaj, Bhupinder B; Liu, Michelle M; Bucksa, Jean M JM; Arends, Valerie L VL; Steffes, Michael W MW; Cleary, Patricia A PA; Sun, Wanjie W; Lachin, John M JM; Thorner, Paul S PS; Ho, Michael M; McKnight, Amy Jayne AJ; Maxwell, A Peter AP; Savage, David A DA; Kidd, Kenneth K KK; Kidd, Judith R JR; Speed, William C WC; Orchard, Trevor J TJ; Miller, Rachel G RG; Sun, Lei L; Bull, Shelley B SB; Paterson, Andrew D AD; ,
Publication Date: 2008-01

Variant appearance in text: rs1041740
PubMed Link: 17914031
Variant Present in the following documents:
  • Main text
View BVdb publication page