Publications:

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The Y831C Mutation of the POLG Gene in Dementia.

Biomedicines

Borgione, Eugenia E; Lo Giudice, Mariangela M; Santa Paola, Sandro S; Giuliano, Marika M; Lanza, Giuseppe G; Cantone, Mariagiovanna M; Ferri, Raffaele R; Scuderi, Carmela C

Publication Date: 2023-04-13

Variant appearance in text: POLG: G737R

PubMed Link: 37189790

Variant Present in the following documents:

• Main text
• biomedicines-11-01172.pdf

View BVdb publication page

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Analysis of rare Parkinson's disease variants in millions of people.

Research Square

Pitz, Vanessa V; Makarious, Mary M; Bandrés-Ciga, Sara S; Iwaki, Hirotaka H; Singleton, Andrew A; Nalls, Mike M; Heilbron, Karl K; Blauwendraat, Cornelis C

Publication Date: 2023-04-10

Variant appearance in text: POLG: G737R; rs121918054

PubMed Link: 37090536

Variant Present in the following documents:

• nihpp-rs2743857v1.pdf

View BVdb publication page

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Crosslink between mutations in mitochondrial genes and brain disorders: implications for mitochondrial-targeted therapeutic interventions.

Neural Regeneration Research

Kalra, Jaspreet J

Publication Date: 2023-01

Variant appearance in text: POLG: G737R

PubMed Link: 35799515

Variant Present in the following documents:

• Main text
• NRR-18-94.pdf

View BVdb publication page

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Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.

Molecular Neurobiology

Dunn, P J PJ; Harvey, N R NR; Maksemous, N N; Smith, R A RA; Sutherland, H G HG; Haupt, L M LM; Griffiths, L R LR

Publication Date: 2022-09

Variant appearance in text: POLG: 2209G>C; Gly737Arg; rs121918054

PubMed Link: 35699875

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: POLG: Gly737Arg; rs121918054

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: POLG: G737R; rs121918054

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Development of a Mitochondrial Myopathy-Composite Assessment Tool.

Jcsm Clinical Reports

Flickinger, Jean J; Fan, Jiaxin J; Wellik, Amanda A; Ganetzky, Rebecca R; Goldstein, Amy A; Muraresku, Colleen C CC; Glanzman, Allan M AM; Ballance, Elizabeth E; Leonhardt, Kristin K; McCormick, Elizabeth M EM; Soreth, Brianna B; Nguyen, Sara S; Gornish, Jennifer J; George-Sankoh, Ibrahim I; Peterson, James J; MacMullen, Laura E LE; Vishnubhatt, Shailee S; McBride, Michael M; Haas, Richard R; Falk, Marni J MJ; Xiao, Rui R; Zolkipli-Cunningham, Zarazuela Z

Publication Date: 2021-10

Variant appearance in text: POLG: Gly737Arg

PubMed Link: 35071983

Variant Present in the following documents:

• NIHMS1767033-supplement-Supplementary_Tables.pdf

View BVdb publication page

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Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.

Molecular Genetics & Genomic Medicine

Wang, Lei L; Liu, Pengfei P; Bi, Weimin W; Sim, Teresa T; Wang, Xia X; Walkiewicz, Magdalene M; Leduc, Magalie Sophie MS; Meng, Linyan L; Xia, Fan F; Eng, Christine M CM; Yang, Yaping Y; Yuan, Bo B; Dai, Hongzheng H

Publication Date: 2021-11

Variant appearance in text: POLG: 2209G>C; G737R

PubMed Link: 34587367

Variant Present in the following documents:

• Main text
• MGG3-9-e1792.pdf
• MGG3-9-e1792-s001.pdf

View BVdb publication page

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Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.

Molecular Genetics & Genomic Medicine

Wang, Lei L; Liu, Pengfei P; Bi, Weimin W; Sim, Teresa T; Wang, Xia X; Walkiewicz, Magdalene M; Leduc, Magalie Sophie MS; Meng, Linyan L; Xia, Fan F; Eng, Christine M CM; Yang, Yaping Y; Yuan, Bo B; Dai, Hongzheng H

Publication Date: 2021-11

Variant appearance in text: POLG: 2209G>C; G737R

PubMed Link: 34587367

Variant Present in the following documents:

• Main text
• MGG3-9-e1792.pdf
• MGG3-9-e1792-s001.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: rs121918054

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?

Journal Of Clinical And Translational Research

Idiculla, Pretty Sara PS; Hussain, Syed Taimour ST; Siddiqui, Junaid Habib JH

Publication Date: 2021-06-26

Variant appearance in text: POLG: G737R

PubMed Link: 34179544

Variant Present in the following documents:

• Main text
• jclintranslres-2021-7-3-297.pdf

View BVdb publication page

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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present.

Journal Of Movement Disorders

Qiu, Jessica J; Kumar, Kishore Raj KR; Watson, Eloise E; Ahmad, Kate K; Sue, Carolyn M CM; Hayes, Michael W MW

Publication Date: 2021-05

Variant appearance in text: POLG: 2209G>C; Gly737Arg

PubMed Link: 34062649

Variant Present in the following documents:

• Main text
• jmd-20159.pdf

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: POLG: 2209G>C; Gly737Arg

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Sadikovic, Bekim B; Levy, Michael A MA; Kerkhof, Jennifer J; Aref-Eshghi, Erfan E; Schenkel, Laila L; Stuart, Alan A; McConkey, Haley H; Henneman, Peter P; Venema, Andrea A; Schwartz, Charles E CE; Stevenson, Roger E RE; Skinner, Steven A SA; DuPont, Barbara R BR; Fletcher, Robin S RS; Balci, Tugce B TB; Siu, Victoria Mok VM; Granadillo, Jorge L JL; Masters, Jennefer J; Kadour, Mike M; Friez, Michael J MJ; van Haelst, Mieke M MM; Mannens, Marcel M A M MMAM; Louie, Raymond J RJ; Lee, Jennifer A JA; Tedder, Matthew L ML; Alders, Marielle M

Publication Date: 2021-06

Variant appearance in text: POLG: 2209G>C; Gly737Arg

PubMed Link: 33547396

Variant Present in the following documents:

• 41436_2020_1096_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

Jama Network Open

SoRelle, Jeffrey A JA; Pascual, Juan M JM; Gotway, Garrett G; Park, Jason Y JY

Publication Date: 2020-04-01

Variant appearance in text: POLG: 2209G>C; Gly737Arg; rs121918054

PubMed Link: 32347949

Variant Present in the following documents:

• jamanetwopen-3-e203812-s001.pdf

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: POLG: 2209G>C; Gly737Arg

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: POLG: 2209G>C; Gly737Arg

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.

Brain And Behavior

Hsieh, Pei-Chen PC; Wang, Chun-Chieh CC; Tsai, Chia-Lung CL; Yeh, Yuan-Ming YM; Lee, Yun Shien YS; Wu, Yih-Ru YR

Publication Date: 2019-05

Variant appearance in text: POLG: G737R

PubMed Link: 30941926

Variant Present in the following documents:

• Main text
• BRB3-9-e01281.pdf

View BVdb publication page

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Late-onset presentation of POLG1-associated mitochondrial disease.

Bmj Case Reports

Meira, Bruna B; Roque, Rafael R; Pinto, Miguel M; Caetano, André A

Publication Date: 2019-03-31

Variant appearance in text: POLG1: G737R

PubMed Link: 30936349

Variant Present in the following documents:

• Main text

View BVdb publication page

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POLG mutations presenting as Charcot-Marie-Tooth disease.

Journal Of The Peripheral Nervous System : Jpns

Phillips, Jade J; Courel, Steve S; Rebelo, Adriana P AP; Bis-Brewer, Dana M DM; Bardakjian, Tanya T; Dankwa, Lois L; Hamedani, Ali G AG; Züchner, Stephan S; Scherer, Steven S SS

Publication Date: 2019-06

Variant appearance in text: POLG: 2209G>C; Gly737Arg

PubMed Link: 30843307

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: POLG: G737R; rs121918054

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs121918054

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: POLG: 2209G>C; Gly737Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: POLG: 2209G>C; G737R; rs121918054

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation.

Parkinsonism & Related Disorders

Mehta, Shyamal H SH; Dickson, Dennis W DW; Morgan, John C JC; Singleton, Andrew B AB; Majounie, Elisa E; Sethi, Kapil D KD

Publication Date: 2016-09

Variant appearance in text: POLG1: G737R

PubMed Link: 27349602

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: POLG: G737R

PubMed Link: 27143693

Variant Present in the following documents:

• Main text

View BVdb publication page

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Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Brain : A Journal Of Neurology

Kullar, Peter J PJ; Quail, Jenna J; Lindsey, Phillip P; Wilson, Janet A JA; Horvath, Rita R; Yu-Wai-Man, Patrick P; Gorman, Grainne S GS; Taylor, Robert W RW; Ng, Yi Y; McFarland, Robert R; Moore, Brian C J BC; Chinnery, Patrick F PF

Publication Date: 2016-06

Variant appearance in text: POLG: Gly737Arg

PubMed Link: 27016405

Variant Present in the following documents:

• Main text
• aww051.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: rs121918054

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: POLG: G737R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: POLG: G737R

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: POLG: G737R; rs121918054

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.

Molecular Genetics And Metabolism

Sitarz, Kamil S KS; Elliott, Hannah R HR; Karaman, Betül S BS; Relton, Caroline C; Chinnery, Patrick F PF; Horvath, Rita R

Publication Date: 2014-05

Variant appearance in text: POLG: 2209G>C; Gly737Arg

PubMed Link: 24725338

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: POLG: 2209G>C; G737R; rs121918054

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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Association of mitochondrial DNA polymerase γ gene POLG1 polymorphisms with parkinsonism in Chinese populations.

Plos One

Gui, Ya-xing YX; Xu, Zhong-ping ZP; Lv, Wen W; Liu, Hong-mei HM; Zhao, Jin-jia JJ; Hu, Xing-yue XY

Publication Date: 2012

Variant appearance in text: POLG1: G737R

PubMed Link: 23251356

Variant Present in the following documents:

• Main text
• pone.0050086.pdf

View BVdb publication page

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In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.

Molecular Genetics And Metabolism

Bulst, Stefanie S; Holinski-Feder, Elke E; Payne, Brendan B; Abicht, Angela A; Krause, Sabine S; Lochmüller, Hanns H; Chinnery, Patrick F PF; Walter, Maggie C MC; Horvath, Rita R

Publication Date: 2012-09

Variant appearance in text: POLG: Gly737Arg

PubMed Link: 22608879

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Nucleic Acids Research

Euro, Liliya L; Farnum, Gregory A GA; Palin, Eino E; Suomalainen, Anu A; Kaguni, Laurie S LS

Publication Date: 2011-11

Variant appearance in text: POLG1: G737R

PubMed Link: 21824913

Variant Present in the following documents:

• Main text
• gkr618.pdf

View BVdb publication page

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Do somatic mitochondrial DNA mutations contribute to Parkinson's disease?

Parkinson'S Disease

Clark, Joanne J; Dai, Ying Y; Simon, David K DK

Publication Date: 2011

Variant appearance in text: POLG: G737R

PubMed Link: 21603185

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research

Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C

Publication Date: 2011-01

Variant appearance in text: POLG: G737R

PubMed Link: 20843780

Variant Present in the following documents:

• supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1
• gkq750.pdf

View BVdb publication page

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A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme.

The Journal Of Biological Chemistry

Lee, Young-Sam YS; Johnson, Kenneth A KA; Molineux, Ian J IJ; Yin, Y Whitney YW

Publication Date: 2010-09-03

Variant appearance in text: POLG: G737R

PubMed Link: 20513922

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Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.

The Journal Of Biological Chemistry

Kasiviswanathan, Rajesh R; Longley, Matthew J MJ; Chan, Sherine S L SS; Copeland, William C WC

Publication Date: 2009-07-17

Variant appearance in text: POLG: G737R

PubMed Link: 19478085

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Human Mutation

Wong, Lee-Jun C LJ; Naviaux, Robert K RK; Brunetti-Pierri, Nicola N; Zhang, Qing Q; Schmitt, Eric S ES; Truong, Cavatina C; Milone, Margherita M; Cohen, Bruce H BH; Wical, Beverly B; Ganesh, Jaya J; Basinger, Alice A AA; Burton, Barbara K BK; Swoboda, Kathryn K; Gilbert, Donald L DL; Vanderver, Adeline A; Saneto, Russell P RP; Maranda, Bruno B; Arnold, Georgianne G; Abdenur, Jose E JE; Waters, Paula J PJ; Copeland, William C WC

Publication Date: 2008-09

Variant appearance in text: POLG: 2209G>C

PubMed Link: 18546365

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The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.

Human Molecular Genetics

Graziewicz, Maria A MA; Bienstock, Rachelle J RJ; Copeland, William C WC

Publication Date: 2007-11-15

Variant appearance in text: POLG: G737R

PubMed Link: 17725985

Variant Present in the following documents:

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