TFAM c.441+113A>G

Variant ID: 10-60148692-A-G

NM_003201.2(TFAM):c.441+113A>G

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines
Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H
Publication Date: 2023-04-24

Variant appearance in text: rs2306604
PubMed Link: 37238932
Variant Present in the following documents:
  • biomedicines-11-01261.pdf
View BVdb publication page



Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Frontiers In Molecular Neuroscience
Wang, Liang L; Yang, Ziyun Z; He, Xiumei X; Pu, Shiming S; Yang, Cheng C; Wu, Qiong Q; Zhou, Zuping Z; Cen, Xiaobo X; Zhao, Hongxia H
Publication Date: 2022

Variant appearance in text: rs2306604
PubMed Link: 36157077
Variant Present in the following documents:
  • Main text
  • fnmol-15-974480.pdf
View BVdb publication page



Candidate Genes of Regulation of Skeletal Muscle Energy Metabolism in Athletes.

Genes
Balberova, Olga V OV; Bykov, Evgeny V EV; Medvedev, German V GV; Zhogina, Margarita A MA; Petrov, Kirill V KV; Petrova, Marina M MM; Al-Zamil, Mustafa M; Trefilova, Vera V VV; Goncharova, Polina S PS; Shnayder, Natalia A NA
Publication Date: 2021-10-23

Variant appearance in text: rs2306604
PubMed Link: 34828287
Variant Present in the following documents:
  • Main text
  • genes-12-01682.pdf
View BVdb publication page



Effects of Genetic Variation on Endurance Performance, Muscle Strength, and Injury Susceptibility in Sports: A Systematic Review.

Frontiers In Physiology
Appel, Milena M; Zentgraf, Karen K; Krüger, Karsten K; Alack, Katharina K
Publication Date: 2021

Variant appearance in text: rs2306604
PubMed Link: 34366884
Variant Present in the following documents:
  • Main text
  • fphys-12-694411.pdf
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Translational Informatics for Parkinson's Disease: from Big Biomedical Data to Small Actionable Alterations.

Genomics, Proteomics & Bioinformatics
Shen, Bairong B; Lin, Yuxin Y; Bi, Cheng C; Zhou, Shengrong S; Bai, Zhongchen Z; Zheng, Guangmin G; Zhou, Jing J
Publication Date: 2019-08

Variant appearance in text: rs2306604
PubMed Link: 31786313
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2306604
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The Interplay of Diet Quality and Alzheimer's Disease Genetic Risk Score in Relation to Cognitive Performance Among Urban African Americans.

Nutrients
Hossain, Sharmin S; Beydoun, May A MA; Kuczmarski, Marie F MF; Tajuddin, Salman S; Evans, Michele K MK; Zonderman, Alan B AB
Publication Date: 2019-09-11

Variant appearance in text: rs2306604
PubMed Link: 31514322
Variant Present in the following documents:
  • Main text
  • nutrients-11-02181.pdf
View BVdb publication page



The mitochondrial transcription factor TFAM in neurodegeneration: emerging evidence and mechanisms.

Febs Letters
Kang, Inhae I; Chu, Charleen T CT; Kaufman, Brett A BA
Publication Date: 2018-03

Variant appearance in text: rs2306604
PubMed Link: 29364506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genes to predict VO2max trainability: a systematic review.

Bmc Genomics
Williams, Camilla J CJ; Williams, Mark G MG; Eynon, Nir N; Ashton, Kevin J KJ; Little, Jonathan P JP; Wisloff, Ulrik U; Coombes, Jeff S JS
Publication Date: 2017-11-14

Variant appearance in text: rs2306604
PubMed Link: 29143670
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_4192.pdf
View BVdb publication page



Polymorphisms of CHAT but not TFAM or VR22 are Associated with Alzheimer Disease Risk.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Gao, Lili L; Zhang, Yan Y; Deng, Jinghua J; Yu, Wenbing W; Yu, Yunxia Y
Publication Date: 2016-06-07

Variant appearance in text: rs2306604
PubMed Link: 27272392
Variant Present in the following documents:
  • Main text
  • medscimonit-22-1924.pdf
View BVdb publication page



Mitochondrial pathways to cardiac recovery: TFAM.

Heart Failure Reviews
Kunkel, George H GH; Chaturvedi, Pankaj P; Tyagi, Suresh C SC
Publication Date: 2016-09

Variant appearance in text: rs2306604
PubMed Link: 27166683
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.

Ageing Research Reviews
DeBalsi, Karen L KL; Hoff, Kirsten E KE; Copeland, William C WC
Publication Date: 2017-01

Variant appearance in text: rs2306604
PubMed Link: 27143693
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Control over mtDNA and Its Relationship to Major Depressive Disorder.

Current Biology : Cb
Cai, Na N; Li, Yihan Y; Chang, Simon S; Liang, Jieqin J; Lin, Chongyun C; Zhang, Xiufei X; Liang, Lu L; Hu, Jingchu J; Chan, Wharton W; Kendler, Kenneth S KS; Malinauskas, Tomas T; Huang, Guo-Jen GJ; Li, Qibin Q; Mott, Richard R; Flint, Jonathan J
Publication Date: 2015-12-21

Variant appearance in text: rs2306604
PubMed Link: 26687620
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



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: rs2306604
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Predicting cognitive decline in Parkinson's disease: can we ask the genes?

Frontiers In Neurology
De Marchi, Fabiola F; Carecchio, Miryam M; Cantello, Roberto R; Comi, Cristoforo C
Publication Date: 2014

Variant appearance in text: rs2306604
PubMed Link: 25386162
Variant Present in the following documents:
  • Main text
  • fneur-05-00224.pdf
View BVdb publication page



The impact of mitochondrial DNA and nuclear genes related to mitochondrial functioning on the risk of Parkinson's disease.

Current Genomics
Gaweda-Walerych, Katarzyna K; Zekanowski, Cezary C
Publication Date: 2013-12

Variant appearance in text: rs2306604
PubMed Link: 24532986
Variant Present in the following documents:
  • Main text
  • CG-14-543.pdf
View BVdb publication page



Multigene interactions and the prediction of depression in the Wisconsin Longitudinal Study.

Bmj Open
Roetker, Nicholas S NS; Yonker, James A JA; Lee, Chee C; Chang, Vicky V; Basson, Jacob J JJ; Roan, Carol L CL; Hauser, Taissa S TS; Hauser, Robert M RM; Atwood, Craig S CS
Publication Date: 2012

Variant appearance in text: rs2306604
PubMed Link: 22761283
Variant Present in the following documents:
  • bmjopen-2012-000944.draft_revisions.pdf
  • bmjopen-2012-000944-s1.pdf
View BVdb publication page



PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups.

Parkinsonism & Related Disorders
Gaweda-Walerych, Katarzyna K; Safranow, Krzysztof K; Jasinska-Myga, Barbara B; Bialecka, Monika M; Klodowska-Duda, Gabriela G; Rudzinska, Monika M; Czyzewski, Krzysztof K; Cobb, Stephanie A SA; Slawek, Jaroslaw J; Styczynska, Maria M; Opala, Grzegorz G; Drozdzik, Marek M; Nishioka, Kenya K; Farrer, Matthew J MJ; Ross, Owen A OA; Wszolek, Zbigniew K ZK; Barcikowska, Maria M; Zekanowski, Cezary C
Publication Date: 2012-06

Variant appearance in text: rs2306604
PubMed Link: 22361577
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intermediate phenotypes identify divergent pathways to Alzheimer's disease.

Plos One
Shulman, Joshua M JM; Chibnik, Lori B LB; Aubin, Cristin C; Schneider, Julie A JA; Bennett, David A DA; De Jager, Philip L PL
Publication Date: 2010-06-21

Variant appearance in text: rs2306604
PubMed Link: 20574532
Variant Present in the following documents:
  • Main text
  • pone.0011244.pdf
View BVdb publication page



Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.

Human Molecular Genetics
Corneveaux, Jason J JJ; Myers, Amanda J AJ; Allen, April N AN; Pruzin, Jeremy J JJ; Ramirez, Manuel M; Engel, Anzhelika A; Nalls, Michael A MA; Chen, Kewei K; Lee, Wendy W; Chewning, Kendria K; Villa, Stephen E SE; Meechoovet, Hunsar B HB; Gerber, Jill D JD; Frost, Danielle D; Benson, Hollie L HL; O'Reilly, Sean S; Chibnik, Lori B LB; Shulman, Joshua M JM; Singleton, Andrew B AB; Craig, David W DW; Van Keuren-Jensen, Kendall R KR; Dunckley, Travis T; Bennett, David A DA; De Jager, Philip L PL; Heward, Christopher C; Hardy, John J; Reiman, Eric M EM; Huentelman, Matthew J MJ
Publication Date: 2010-08-15

Variant appearance in text: rs2306604
PubMed Link: 20534741
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of Alzheimer's disease case-control associations using family-based methods.

Neurogenetics
Schjeide, Brit-Maren M BM; McQueen, Matthew B MB; Mullin, Kristina K; DiVito, Jason J; Hogan, Meghan F MF; Parkinson, Michele M; Hooli, Basavaraj B; Lange, Christoph C; Blacker, Deborah D; Tanzi, Rudolph E RE; Bertram, Lars L
Publication Date: 2009-02

Variant appearance in text: rs2306604
PubMed Link: 18830724
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta.

Neurogenetics
Kauwe, John S K JS; Wang, Jun J; Mayo, Kevin K; Morris, John C JC; Fagan, Anne M AM; Holtzman, David M DM; Goate, Alison M AM
Publication Date: 2009-02

Variant appearance in text: rs2306604
PubMed Link: 18813964
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the potential excess of statistically significant findings in published genetic association studies: application to Alzheimer's disease.

American Journal Of Epidemiology
Kavvoura, Fotini K FK; McQueen, Matthew B MB; Khoury, Muin J MJ; Tanzi, Rudolph E RE; Bertram, Lars L; Ioannidis, John P A JP
Publication Date: 2008-10-15

Variant appearance in text: rs2306604
PubMed Link: 18779388
Variant Present in the following documents:
  • Main text
View BVdb publication page