ESR1 c.278G>C ;(p.G93A)

Variant ID: 6-152129325-G-C

NM_000125.3(ESR1):c.278G>C;(p.G93A)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Interrelationship and Sequencing of Interleukins4, 13, 31, and 33 - An Integrated Systematic Review: Dermatological and Multidisciplinary Perspectives.

Journal Of Inflammation Research
Tatu, Alin Laurentiu AL; Nadasdy, Thomas T; Arbune, Anca A; Chioncel, Valentin V; Bobeica, Carmen C; Niculet, Elena E; Iancu, Alina Viorica AV; Dumitru, Caterina C; Popa, Valentin Tudor VT; Kluger, Nicolas N; Clatici, Victor Gabriel VG; Vasile, Claudiu Ionut CI; Onisor, Cristian C; Nechifor, Alexandru A
Publication Date: 2022

Variant appearance in text: ESR: G93A
PubMed Link: 36110506
Variant Present in the following documents:
  • Main text
  • jir-15-5163.pdf
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The Potential Effects of Phytoestrogens: The Role in Neuroprotection.

Molecules (Basel, Switzerland)
Gorzkiewicz, Justyna J; Bartosz, Grzegorz G; Sadowska-Bartosz, Izabela I
Publication Date: 2021-05-16

Variant appearance in text: NR3A1: G93A
PubMed Link: 34065647
Variant Present in the following documents:
  • Main text
  • molecules-26-02954.pdf
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Brucellosis causing subacute motor polyradiculopathy and the pathological correlation of pseudomyopathic electromyography: A case report.

Clinical Neurophysiology Practice
Abuzinadah, Ahmad R AR; Milyani, Haneen A HA; Alshareef, Aysha A; Bamaga, Ahmed K AK; Alshehri, Abdulraheem A; Kurdi, Maher E ME
Publication Date: 2020

Variant appearance in text: ESR: G93A
PubMed Link: 32642603
Variant Present in the following documents:
  • main.pdf
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The Peripheral Immune System and Amyotrophic Lateral Sclerosis.

Frontiers In Neurology
McCombe, Pamela A PA; Lee, John D JD; Woodruff, Trent M TM; Henderson, Robert D RD
Publication Date: 2020

Variant appearance in text: ESR: G93A
PubMed Link: 32373052
Variant Present in the following documents:
  • Main text
  • fneur-11-00279.pdf
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Proteasome mapping reveals sexual dimorphism in tissue-specific sensitivity to protein aggregations.

Embo Reports
Jenkins, Edmund Charles EC; Shah, Nagma N; Gomez, Maria M; Casalena, Gabriella G; Zhao, Dazhi D; Kenny, Timothy C TC; Guariglia, Sara Rose SR; Manfredi, Giovanni G; Germain, Doris D
Publication Date: 2020-04-03

Variant appearance in text: ER-alpha: G93A
PubMed Link: 32090465
Variant Present in the following documents:
  • EMBR-21-e48978-s002.pdf
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p-Coumaric Acid Has Protective Effects against Mutant Copper-Zinc Superoxide Dismutase 1 via the Activation of Autophagy in N2a Cells.

International Journal Of Molecular Sciences
Ueda, Tomoyuki T; Ito, Taisei T; Kurita, Hisaka H; Inden, Masatoshi M; Hozumi, Isao I
Publication Date: 2019-06-16

Variant appearance in text: ESR: G93A
PubMed Link: 31208129
Variant Present in the following documents:
  • ijms-20-02942.pdf
View BVdb publication page



Differential Expression of Several miRNAs and the Host Genes AATK and DNM2 in Leukocytes of Sporadic ALS Patients.

Frontiers In Molecular Neuroscience
Vrabec, Katarina K; Boštjančič, Emanuela E; Koritnik, Blaž B; Leonardis, Lea L; Dolenc Grošelj, Leja L; Zidar, Janez J; Rogelj, Boris B; Glavač, Damjan D; Ravnik-Glavač, Metka M
Publication Date: 2018

Variant appearance in text: ESR1: Gly93Ala
PubMed Link: 29670510
Variant Present in the following documents:
  • Main text
  • fnmol-11-00106.pdf
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How is edaravone effective against acute ischemic stroke and amyotrophic lateral sclerosis?

Journal Of Clinical Biochemistry And Nutrition
Watanabe, Kazutoshi K; Tanaka, Masahiko M; Yuki, Satoshi S; Hirai, Manabu M; Yamamoto, Yorihiro Y
Publication Date: 2018-01

Variant appearance in text: ESR: G93A
PubMed Link: 29371752
Variant Present in the following documents:
  • Main text
  • jcbn17-62.pdf
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The effects of Brazilian green propolis that contains flavonols against mutant copper-zinc superoxide dismutase-mediated toxicity.

Scientific Reports
Ueda, Tomoyuki T; Inden, Masatoshi M; Shirai, Katsuhiro K; Sekine, Shin-Ichiro SI; Masaki, Yuji Y; Kurita, Hisaka H; Ichihara, Kenji K; Inuzuka, Takashi T; Hozumi, Isao I
Publication Date: 2017-06-06

Variant appearance in text: ESR: G93A
PubMed Link: 28588226
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mitochondrial protein-linked DNA breaks perturb mitochondrial gene transcription and trigger free radical-induced DNA damage.

Science Advances
Chiang, Shih-Chieh SC; Meagher, Martin M; Kassouf, Nick N; Hafezparast, Majid M; McKinnon, Peter J PJ; Haywood, Rachel R; El-Khamisy, Sherif F SF
Publication Date: 2017-04

Variant appearance in text: ESR: G93A
PubMed Link: 28508041
Variant Present in the following documents:
  • Main text
  • 1602506.pdf
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Tripping up Trp: Modification of protein tryptophan residues by reactive oxygen species, modes of detection, and biological consequences.

Free Radical Biology & Medicine
Ehrenshaft, Marilyn M; Deterding, Leesa J LJ; Mason, Ronald P RP
Publication Date: 2015-12

Variant appearance in text: ESR: G93A
PubMed Link: 26393422
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aggregation propensities of superoxide dismutase G93 hotspot mutants mirror ALS clinical phenotypes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Pratt, Ashley J AJ; Shin, David S DS; Merz, Gregory E GE; Rambo, Robert P RP; Lancaster, W Andrew WA; Dyer, Kevin N KN; Borbat, Peter P PP; Poole, Farris L FL; Adams, Michael W W MW; Freed, Jack H JH; Crane, Brian R BR; Tainer, John A JA; Getzoff, Elizabeth D ED
Publication Date: 2014-10-28

Variant appearance in text: ESR: G93A
PubMed Link: 25316790
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single-nucleotide polymorphism analysis of GH, GHR, and IGF-1 genes in minipigs.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
Tian, Y G YG; Yue, M M; Gu, Y Y; Gu, W W WW; Wang, Y J YJ
Publication Date: 2014-09

Variant appearance in text: ESR: G93A
PubMed Link: 25098617
Variant Present in the following documents:
  • Main text
  • 1414-431X-bjmbr-47-09-00753.pdf
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Detection and imaging of the free radical DNA in cells--site-specific radical formation induced by Fenton chemistry and its repair in cellular DNA as seen by electron spin resonance, immuno-spin trapping and confocal microscopy.

Nucleic Acids Research
Bhattacharjee, Suchandra S; Chatterjee, Saurabh S; Jiang, Jinjie J; Sinha, Birandra Kumar BK; Mason, Ronald P RP
Publication Date: 2012-07

Variant appearance in text: ESR: G93A
PubMed Link: 22387463
Variant Present in the following documents:
  • gks180.pdf
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The Role of immune and inflammatory mechanisms in ALS.

Current Molecular Medicine
McCombe, P A PA; Henderson, R D RD
Publication Date: 2011-04

Variant appearance in text: ESR: G93A
PubMed Link: 21375489
Variant Present in the following documents:
  • Main text
  • CMM-11-246.pdf
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Immuno-spin trapping of protein and DNA radicals: "tagging" free radicals to locate and understand the redox process.

Free Radical Biology & Medicine
Gomez-Mejiba, Sandra E SE; Zhai, Zili Z; Akram, Hammad H; Deterding, Leesa J LJ; Hensley, Kenneth K; Smith, Nataliya N; Towner, Rheal A RA; Tomer, Kenneth B KB; Mason, Ronald P RP; Ramirez, Dario C DC
Publication Date: 2009-04-01

Variant appearance in text: ESR: G93A
PubMed Link: 19159679
Variant Present in the following documents:
  • Main text
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Structural consequences of the familial amyotrophic lateral sclerosis SOD1 mutant His46Arg.

Protein Science : A Publication Of The Protein Society
Antonyuk, Svetlana S; Elam, Jennifer Stine JS; Hough, Michael A MA; Strange, Richard W RW; Doucette, Peter A PA; Rodriguez, Jorge A JA; Hayward, Lawrence J LJ; Valentine, Joan Selverstone JS; Hart, P John PJ; Hasnain, S Samar SS
Publication Date: 2005-05

Variant appearance in text: ESR: G93A
PubMed Link: 15840828
Variant Present in the following documents:
  • Main text
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Reexamination of the mechanism of hydroxyl radical adducts formed from the reaction between familial amyotrophic lateral sclerosis-associated Cu,Zn superoxide dismutase mutants and H2O2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Singh, R J RJ; Karoui, H H; Gunther, M R MR; Beckman, J S JS; Mason, R P RP; Kalyanaraman, B B
Publication Date: 1998-06-09

Variant appearance in text: ESR: G93A
PubMed Link: 9618471
Variant Present in the following documents:
  • Main text
View BVdb publication page