GLS2 c.1742T>C ;(p.L581P)

Variant ID: 12-56865338-A-G

NM_013267.3(GLS2):c.1742T>C;(p.L581P)

This variant was identified in 47 publications

View GRCh38 version.




Publications:


Development and validation of a multivariable genotype-informed gestational diabetes prediction algorithm for clinical use in the Mexican population: insights into susceptibility mechanisms.

Bmj Open Diabetes Research & Care
Zulueta, Mirella M; Gallardo-Rincón, Héctor H; Martinez-Juarez, Luis Alberto LA; Lomelin-Gascon, Julieta J; Ortega-Montiel, Janinne J; Montoya, Alejandra A; Mendizabal, Leire L; Arregi, Maddi M; Martinez-Martinez, María de Los Angeles MLA; Camarillo Romero, Eneida Del Socorro EDS; Mendieta Zerón, Hugo H; Garduño García, José de Jesús JJ; Simón, Laureano L; Tapia-Conyer, Roberto R
Publication Date: 2023-04

Variant appearance in text: rs2657879
PubMed Link: 37085278
Variant Present in the following documents:
  • bmjdrc-2022-003046supp003.pdf
View BVdb publication page



Causal effects of maternal circulating amino acids on offspring birthweight: a Mendelian randomisation study.

Ebiomedicine
Zhao, Jian J; Stewart, Isobel D ID; Baird, Denis D; Mason, Dan D; Wright, John J; Zheng, Jie J; Gaunt, Tom R TR; Evans, David M DM; Freathy, Rachel M RM; Langenberg, Claudia C; Warrington, Nicole M NM; Lawlor, Deborah A DA; Borges, Maria Carolina MC; ,
Publication Date: 2023-01-23

Variant appearance in text: rs2657879
PubMed Link: 36696816
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Using Recurrent Neural Networks for Predicting Type-2 Diabetes from Genomic and Tabular Data.

Diagnostics (Basel, Switzerland)
Srinivasu, Parvathaneni Naga PN; Shafi, Jana J; Krishna, T Balamurali TB; Sujatha, Canavoy Narahari CN; Praveen, S Phani SP; Ijaz, Muhammad Fazal MF
Publication Date: 2022-12-06

Variant appearance in text: rs2657879
PubMed Link: 36553074
Variant Present in the following documents:
  • diagnostics-12-03067.pdf
View BVdb publication page



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: rs2657879
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Disentangling Independent and Mediated Causal Relationships Between Blood Metabolites, Cognitive Factors, and Alzheimer's Disease.

Biological Psychiatry Global Open Science
Lord, Jodie J; Green, Rebecca R; Choi, Shing Wan SW; Hübel, Christopher C; Aarsland, Dag D; Velayudhan, Latha L; Sham, Pak P; Legido-Quigley, Cristina C; Richards, Marcus M; Dobson, Richard R; Proitsi, Petroula P; , ; ,
Publication Date: 2022-04

Variant appearance in text: rs2657879
PubMed Link: 36325159
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
View BVdb publication page



Genetic variants for prediction of gestational diabetes mellitus and modulation of susceptibility by a nutritional intervention based on a Mediterranean diet.

Frontiers In Endocrinology
Ramos-Levi, Ana A; Barabash, Ana A; Valerio, Johanna J; García de la Torre, Nuria N; Mendizabal, Leire L; Zulueta, Mirella M; de Miguel, Maria Paz MP; Diaz, Angel A; Duran, Alejandra A; Familiar, Cristina C; Jimenez, Inés I; Del Valle, Laura L; Melero, Veronica V; Moraga, Inmaculada I; Herraiz, Miguel A MA; Torrejon, María José MJ; Arregi, Maddi M; Simón, Laureano L; Rubio, Miguel A MA; Calle-Pascual, Alfonso L AL
Publication Date: 2022

Variant appearance in text: rs2657879
PubMed Link: 36313769
Variant Present in the following documents:
  • Main text
  • fendo-13-1036088.pdf
View BVdb publication page



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: GLS2: L581P
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



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: rs2657879
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GLS2: 1742T>C
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Crosstalk between Host Genome and Metabolome among People with HIV in South Africa.

Metabolites
Liu, Chang C; Wang, Zicheng Z; Hui, Qin Q; Chiang, Yiyun Y; Chen, Junyu J; Brijkumar, Jaysingh J; Edwards, Johnathan A JA; Ordonez, Claudia E CE; Dudgeon, Mathew R MR; Sunpath, Henry H; Pillay, Selvan S; Moodley, Pravi P; Kuritzkes, Daniel R DR; Moosa, Mohamed Y S MYS; Jones, Dean P DP; Marconi, Vincent C VC; Sun, Yan V YV
Publication Date: 2022-07-06

Variant appearance in text: rs2657879
PubMed Link: 35888748
Variant Present in the following documents:
  • metabolites-12-00624.pdf
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: rs2657879
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Empowering consumers to PREVENT diet-related diseases through OMICS sciences (PREVENTOMICS): protocol for a parallel double-blinded randomised intervention trial to investigate biomarker-based nutrition plans for weight loss.

Bmj Open
Aldubayan, Mona Adnan MA; Pigsborg, Kristina K; Gormsen, Sophia M O SMO; Serra, Francisca F; Palou, Mariona M; Mena, Pedro P; Wetzels, Mart M; Calleja, Alberto A; Caimari, Antoni A; Del Bas, Josep J; Gutierrez, Biotza B; Magkos, Faidon F; Hjorth, Mads Fiil MF
Publication Date: 2022-03-29

Variant appearance in text: rs2657879
PubMed Link: 35351696
Variant Present in the following documents:
  • Main text
  • bmjopen-2021-051285.draft_revisions.pdf
  • bmjopen-2021-051285.pdf
View BVdb publication page



Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis.

Journal Of The National Cancer Institute
Murphy, Neil N; Song, Mingyang M; Papadimitriou, Nikos N; Carreras-Torres, Robert R; Langenberg, Claudia C; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Barroso, Inês I; Chen, Ji J; Frayling, Timothy M TM; Bull, Caroline J CJ; Vincent, Emma E EE; Cotterchio, Michelle M; Gruber, Stephen B SB; Pai, Rish K RK; Newcomb, Polly A PA; Perez-Cornago, Aurora A; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Vodicka, Pavel P; Wolk, Alicja A; Wu, Anna H AH; Peters, Ulrike U; Chan, Andrew T AT; Gunter, Marc J MJ
Publication Date: 2022-05-09

Variant appearance in text: rs2657879
PubMed Link: 35048991
Variant Present in the following documents:
  • djac011_supplementary_data.pdf
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 9
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 3
View BVdb publication page



Hearing difficulty is linked to Alzheimer's disease by common genetic vulnerability, not shared genetic architecture.

Npj Aging And Mechanisms Of Disease
Abidin, Fatin N Zainul FNZ; Wells, Helena R R HRR; Altmann, Andre A; Dawson, Sally J SJ
Publication Date: 2021-07-22

Variant appearance in text: rs2657879
PubMed Link: 34294723
Variant Present in the following documents:
  • Main text
  • 41514_2021_Article_69.pdf
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: GLS2: 1742T>C; L581P; rs2657879
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 1
View BVdb publication page



Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses.

Bmc Medicine
Seyed Khoei, Nazlisadat N; Jenab, Mazda M; Murphy, Neil N; Banbury, Barbara L BL; Carreras-Torres, Robert R; Viallon, Vivian V; Kühn, Tilman T; Bueno-de-Mesquita, Bas B; Aleksandrova, Krasimira K; Cross, Amanda J AJ; Weiderpass, Elisabete E; Stepien, Magdalena M; Bulmer, Andrew A; Tjønneland, Anne A; Boutron-Ruault, Marie-Christine MC; Severi, Gianluca G; Carbonnel, Franck F; Katzke, Verena V; Boeing, Heiner H; Bergmann, Manuela M MM; Trichopoulou, Antonia A; Karakatsani, Anna A; Martimianaki, Georgia G; Palli, Domenico D; Tagliabue, Giovanna G; Panico, Salvatore S; Tumino, Rosario R; Sacerdote, Carlotta C; Skeie, Guri G; Merino, Susana S; Bonet, Catalina C; Rodríguez-Barranco, Miguel M; Gil, Leire L; Chirlaque, Maria-Dolores MD; Ardanaz, Eva E; Myte, Robin R; Hultdin, Johan J; Perez-Cornago, Aurora A; Aune, Dagfinn D; Tsilidis, Konstantinos K KK; Albanes, Demetrius D; Baron, John A JA; Berndt, Sonja I SI; Bézieau, Stéphane S; Brenner, Hermann H; Campbell, Peter T PT; Casey, Graham G; Chan, Andrew T AT; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Cotterchio, Michelle M; Gallinger, Steven S; Gruber, Stephen B SB; Haile, Robert W RW; Hampe, Jochen J; Hoffmeister, Michael M; Hopper, John L JL; Hsu, Li L; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Joshi, Amit D AD; Kampman, Ellen E; Larsson, Susanna C SC; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Lindor, Noralane M NM; Martín, Vicente V; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Parfrey, Patrick S PS; Pharoah, Paul D P PDP; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schmit, Stephanie L SL; Schoen, Robert E RE; Slattery, Martha L ML; Thibodeau, Stephen N SN; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Weigl, Korbinian K; Weinstein, Stephanie J SJ; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zhang, Xuehong X; Ferrari, Pietro P; Anton, Gabriele G; Peters, Annette A; Peters, Ulrike U; Gunter, Marc J MJ; Wagner, Karl-Heinz KH; Freisling, Heinz H
Publication Date: 2020-09-03

Variant appearance in text: rs2657879
PubMed Link: 32878631
Variant Present in the following documents:
  • 12916_2020_1703_MOESM1_ESM.pdf
View BVdb publication page



Circulating Glutamine and Alzheimer's Disease: A Mendelian Randomization Study.

Clinical Interventions In Aging
Adams, Charleen D CD
Publication Date: 2020

Variant appearance in text: rs2657879
PubMed Link: 32103921
Variant Present in the following documents:
  • Main text
  • cia-15-185.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: GLS2: L581P; rs2657879
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: GLS2: L581P
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population.

European Journal Of Human Genetics : Ejhg
Imaizumi, Akira A; Adachi, Yusuke Y; Kawaguchi, Takahisa T; Higasa, Koichiro K; Tabara, Yasuharu Y; Sonomura, Kazuhiro K; Sato, Taka-Aki TA; Takahashi, Meiko M; Mizukoshi, Toshimi T; Yoshida, Hiro-O HO; Kageyama, Naoko N; Okamoto, Chisato C; Takasu, Mariko M; Mori, Maiko M; Noguchi, Yasushi Y; Shimba, Nobuhisa N; Miyano, Hiroshi H; Yamada, Ryo R; Matsuda, Fumihiko F
Publication Date: 2019-04

Variant appearance in text: rs2657879
PubMed Link: 30659259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A network-based conditional genetic association analysis of the human metabolome.

Gigascience
Tsepilov, Y A YA; Sharapov, S Z SZ; Zaytseva, O O OO; Krumsiek, J J; Prehn, C C; Adamski, J J; Kastenmüller, G G; Wang-Sattler, R R; Strauch, K K; Gieger, C C; Aulchenko, Y S YS
Publication Date: 2018-12-01

Variant appearance in text: rs2657879
PubMed Link: 30496450
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs2657879
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia.

Plos Genetics
Scott, William K WK; Medie, Felix Mba FM; Ruffin, Felicia F; Sharma-Kuinkel, Batu K BK; Cyr, Derek D DD; Guo, Shengru S; Dykxhoorn, Derek M DM; Skov, Robert L RL; Bruun, Niels E NE; Dahl, Anders A; Lerche, Christian J CJ; Petersen, Andreas A; Larsen, Anders Rhod AR; Lauridsen, Trine Kiilerich TK; Johansen, Helle Krogh HK; Ullum, Henrik H; Sørensen, Erik E; Hassager, Christian C; Bundgaard, Henning H; Schønheyder, Henrik C HC; Torp-Pedersen, Christian C; Østergaard, Louise Bruun LB; Arpi, Magnus M; Rosenvinge, Flemming F; Erikstrup, Lise T LT; Chehri, Mahtab M; Søgaard, Peter P; Andersen, Paal S PS; Fowler, Vance G VG
Publication Date: 2018-10

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 30289878
Variant Present in the following documents:
  • Main text
  • pgen.1007667.pdf
View BVdb publication page



Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study.

Diabetes
Loomis, Stephanie J SJ; Li, Man M; Maruthur, Nisa M NM; Baldridge, Abigail S AS; North, Kari E KE; Mei, Hao H; Morrison, Alanna A; Carson, April P AP; Pankow, James S JS; Boerwinkle, Eric E; Scharpf, Robert R; Rasmussen-Torvik, Laura J LJ; Coresh, Josef J; Duggal, Priya P; Köttgen, Anna A; Selvin, Elizabeth E
Publication Date: 2018-08

Variant appearance in text: rs2657879
PubMed Link: 29844224
Variant Present in the following documents:
  • Main text
  • db171362.pdf
View BVdb publication page



Causal Impact of Type 2 Diabetes Mellitus on Cerebral Small Vessel Disease: A Mendelian Randomization Analysis.

Stroke
Liu, Junfeng J; Rutten-Jacobs, Loes L; Liu, Ming M; Markus, Hugh S HS; Traylor, Matthew M
Publication Date: 2018-06

Variant appearance in text: rs2657879
PubMed Link: 29686024
Variant Present in the following documents:
  • str-49-1325-s001.pdf
View BVdb publication page



Targeting hepatic glutaminase activity to ameliorate hyperglycemia.

Nature Medicine
Miller, Russell A RA; Shi, Yuji Y; Lu, Wenyun W; Pirman, David A DA; Jatkar, Aditi A; Blatnik, Matthew M; Wu, Hong H; Cárdenas, César C; Wan, Min M; Foskett, J Kevin JK; Park, Junyoung O JO; Zhang, Yiyi Y; Holland, William L WL; Rabinowitz, Joshua D JD; Birnbaum, Morris J MJ
Publication Date: 2018-05

Variant appearance in text: GLS2: 1742T>C; L581P; rs2657879
PubMed Link: 29578539
Variant Present in the following documents:
  • Main text
  • nihms941559.pdf
View BVdb publication page



Evaluating the glucose raising effect of established loci via a genetic risk score.

Plos One
Marouli, Eirini E; Kanoni, Stavroula S; Mamakou, Vasiliki V; Hackinger, Sophie S; Southam, Lorraine L; Prins, Bram B; Rentari, Angela A; Dimitriou, Maria M; Zengini, Eleni E; Gonidakis, Fragiskos F; Kolovou, Genovefa G; Kontaxakis, Vassilis V; Rallidis, Loukianos L; Tentolouris, Nikolaos N; Thanopoulou, Anastasia A; Lamnissou, Klea K; Dedoussis, George G; Zeggini, Eleftheria E; Deloukas, Panagiotis P
Publication Date: 2017

Variant appearance in text: rs2657879
PubMed Link: 29125842
Variant Present in the following documents:
  • Main text
  • pone.0186669.pdf
View BVdb publication page



Covariate selection for association screening in multiphenotype genetic studies.

Nature Genetics
Aschard, Hugues H; Guillemot, Vincent V; Vilhjalmsson, Bjarni B; Patel, Chirag J CJ; Skurnik, David D; Ye, Chun J CJ; Wolpin, Brian B; Kraft, Peter P; Zaitlen, Noah N
Publication Date: 2017-12

Variant appearance in text: rs2657879
PubMed Link: 29038595
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic aetiology of glycaemic traits: approaches and insights.

Human Molecular Genetics
Wheeler, Eleanor E; Marenne, Gaëlle G; Barroso, Inês I
Publication Date: 2017-10-01

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 28977447
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortium.

Diabetologia
Bien, Stephanie A SA; Pankow, James S JS; Haessler, Jeffrey J; Lu, Yinchang Y; Pankratz, Nathan N; Rohde, Rebecca R RR; Tamuno, Alfred A; Carlson, Christopher S CS; Schumacher, Fredrick R FR; Bůžková, Petra P; Daviglus, Martha L ML; Lim, Unhee U; Fornage, Myriam M; Fernandez-Rhodes, Lindsay L; Avilés-Santa, Larissa L; Buyske, Steven S; Gross, Myron D MD; Graff, Mariaelisa M; Isasi, Carmen R CR; Kuller, Lewis H LH; Manson, JoAnn E JE; Matise, Tara C TC; Prentice, Ross L RL; Wilkens, Lynne R LR; Yoneyama, Sachiko S; Loos, Ruth J F RJF; Hindorff, Lucia A LA; Le Marchand, Loic L; North, Kari E KE; Haiman, Christopher A CA; Peters, Ulrike U; Kooperberg, Charles C
Publication Date: 2017-12

Variant appearance in text: rs2657879
PubMed Link: 28905132
Variant Present in the following documents:
  • Main text
  • 125_2017_Article_4405.pdf
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Genetically Driven Hyperglycemia Increases Risk of Coronary Artery Disease Separately From Type 2 Diabetes.

Diabetes Care
Merino, Jordi J; Leong, Aaron A; Posner, Daniel C DC; Porneala, Bianca B; Masana, Lluís L; Dupuis, Josée J; Florez, Jose C JC
Publication Date: 2017-05

Variant appearance in text: rs2657879
PubMed Link: 28298470
Variant Present in the following documents:
  • DC162625SupplementaryData.pdf
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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
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Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

Nature Communications
Kettunen, Johannes J; Demirkan, Ayşe A; Würtz, Peter P; Draisma, Harmen H M HH; Haller, Toomas T; Rawal, Rajesh R; Vaarhorst, Anika A; Kangas, Antti J AJ; Lyytikäinen, Leo-Pekka LP; Pirinen, Matti M; Pool, René R; Sarin, Antti-Pekka AP; Soininen, Pasi P; Tukiainen, Taru T; Wang, Qin Q; Tiainen, Mika M; Tynkkynen, Tuulia T; Amin, Najaf N; Zeller, Tanja T; Beekman, Marian M; Deelen, Joris J; van Dijk, Ko Willems KW; Esko, Tõnu T; Hottenga, Jouke-Jan JJ; van Leeuwen, Elisabeth M EM; Lehtimäki, Terho T; Mihailov, Evelin E; Rose, Richard J RJ; de Craen, Anton J M AJ; Gieger, Christian C; Kähönen, Mika M; Perola, Markus M; Blankenberg, Stefan S; Savolainen, Markku J MJ; Verhoeven, Aswin A; Viikari, Jorma J; Willemsen, Gonneke G; Boomsma, Dorret I DI; van Duijn, Cornelia M CM; Eriksson, Johan J; Jula, Antti A; Järvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Metspalu, Andres A; Raitakari, Olli O; Salomaa, Veikko V; Slagboom, P Eline PE; Waldenberger, Melanie M; Ripatti, Samuli S; Ala-Korpela, Mika M
Publication Date: 2016-03-23

Variant appearance in text: rs2657879
PubMed Link: 27005778
Variant Present in the following documents:
  • ncomms11122-s1.pdf
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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: rs2657879
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Recent advances in understanding the genetic architecture of type 2 diabetes.

Human Molecular Genetics
Mohlke, Karen L KL; Boehnke, Michael M
Publication Date: 2015-10-15

Variant appearance in text: rs2657879
PubMed Link: 26160912
Variant Present in the following documents:
  • Main text
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: GLS2: L581P; rs2657879
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 13
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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: GLS2: L581P
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s002.xls, sheet 3
  • pone.0109576.s001.xls, sheet 3
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What will diabetes genomes tell us?

Current Diabetes Reports
Mohlke, Karen L KL; Scott, Laura J LJ
Publication Date: 2012-12

Variant appearance in text: rs2657879
PubMed Link: 22983892
Variant Present in the following documents:
  • Main text
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Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

Nature Genetics
Scott, Robert A RA; Lagou, Vasiliki V; Welch, Ryan P RP; Wheeler, Eleanor E; Montasser, May E ME; Luan, Jian'an J; Mägi, Reedik R; Strawbridge, Rona J RJ; Rehnberg, Emil E; Gustafsson, Stefan S; Kanoni, Stavroula S; Rasmussen-Torvik, Laura J LJ; Yengo, Loïc L; Lecoeur, Cecile C; Shungin, Dmitry D; Sanna, Serena S; Sidore, Carlo C; Johnson, Paul C D PC; Jukema, J Wouter JW; Johnson, Toby T; Mahajan, Anubha A; Verweij, Niek N; Thorleifsson, Gudmar G; Hottenga, Jouke-Jan JJ; Shah, Sonia S; Smith, Albert V AV; Sennblad, Bengt B; Gieger, Christian C; Salo, Perttu P; Perola, Markus M; Timpson, Nicholas J NJ; Evans, David M DM; Pourcain, Beate St BS; Wu, Ying Y; Andrews, Jeanette S JS; Hui, Jennie J; Bielak, Lawrence F LF; Zhao, Wei W; Horikoshi, Momoko M; Navarro, Pau P; Isaacs, Aaron A; O'Connell, Jeffrey R JR; Stirrups, Kathleen K; Vitart, Veronique V; Hayward, Caroline C; Esko, Tõnu T; Mihailov, Evelin E; Fraser, Ross M RM; Fall, Tove T; Voight, Benjamin F BF; Raychaudhuri, Soumya S; Chen, Han H; Lindgren, Cecilia M CM; Morris, Andrew P AP; Rayner, Nigel W NW; Robertson, Neil N; Rybin, Denis D; Liu, Ching-Ti CT; Beckmann, Jacques S JS; Willems, Sara M SM; Chines, Peter S PS; Jackson, Anne U AU; Kang, Hyun Min HM; Stringham, Heather M HM; Song, Kijoung K; Tanaka, Toshiko T; Peden, John F JF; Goel, Anuj A; Hicks, Andrew A AA; An, Ping P; Müller-Nurasyid, Martina M; Franco-Cereceda, Anders A; Folkersen, Lasse L; Marullo, Letizia L; Jansen, Hanneke H; Oldehinkel, Albertine J AJ; Bruinenberg, Marcel M; Pankow, James S JS; North, Kari E KE; Forouhi, Nita G NG; Loos, Ruth J F RJ; Edkins, Sarah S; Varga, Tibor V TV; Hallmans, Göran G; Oksa, Heikki H; Antonella, Mulas M; Nagaraja, Ramaiah R; Trompet, Stella S; Ford, Ian I; Bakker, Stephan J L SJ; Kong, Augustine A; Kumari, Meena M; Gigante, Bruna B; Herder, Christian C; Munroe, Patricia B PB; Caulfield, Mark M; Antti, Jula J; Mangino, Massimo M; Small, Kerrin K; Miljkovic, Iva I; Liu, Yongmei Y; Atalay, Mustafa M; Kiess, Wieland W; James, Alan L AL; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Palmer, Colin N A CN; Doney, Alex S F AS; Willemsen, Gonneke G; Smit, Johannes H JH; Campbell, Susan S; Polasek, Ozren O; Bonnycastle, Lori L LL; Hercberg, Serge S; Dimitriou, Maria M; Bolton, Jennifer L JL; Fowkes, Gerard R GR; Kovacs, Peter P; Lindström, Jaana J; Zemunik, Tatijana T; Bandinelli, Stefania S; Wild, Sarah H SH; Basart, Hanneke V HV; Rathmann, Wolfgang W; Grallert, Harald H; , ; Maerz, Winfried W; Kleber, Marcus E ME; Boehm, Bernhard O BO; Peters, Annette A; Pramstaller, Peter P PP; Province, Michael A MA; Borecki, Ingrid B IB; Hastie, Nicholas D ND; Rudan, Igor I; Campbell, Harry H; Watkins, Hugh H; Farrall, Martin M; Stumvoll, Michael M; Ferrucci, Luigi L; Waterworth, Dawn M DM; Bergman, Richard N RN; Collins, Francis S FS; Tuomilehto, Jaakko J; Watanabe, Richard M RM; de Geus, Eco J C EJ; Penninx, Brenda W BW; Hofman, Albert A; Oostra, Ben A BA; Psaty, Bruce M BM; Vollenweider, Peter P; Wilson, James F JF; Wright, Alan F AF; Hovingh, G Kees GK; Metspalu, Andres A; Uusitupa, Matti M; Magnusson, Patrik K E PK; Kyvik, Kirsten O KO; Kaprio, Jaakko J; Price, Jackie F JF; Dedoussis, George V GV; Deloukas, Panos P; Meneton, Pierre P; Lind, Lars L; Boehnke, Michael M; Shuldiner, Alan R AR; van Duijn, Cornelia M CM; Morris, Andrew D AD; Toenjes, Anke A; Peyser, Patricia A PA; Beilby, John P JP; Körner, Antje A; Kuusisto, Johanna J; Laakso, Markku M; Bornstein, Stefan R SR; Schwarz, Peter E H PE; Lakka, Timo A TA; Rauramaa, Rainer R; Adair, Linda S LS; Smith, George Davey GD; Spector, Tim D TD; Illig, Thomas T; de Faire, Ulf U; Hamsten, Anders A; Gudnason, Vilmundur V; Kivimaki, Mika M; Hingorani, Aroon A; Keinanen-Kiukaanniemi, Sirkka M SM; Saaristo, Timo E TE; Boomsma, Dorret I DI; Stefansson, Kari K; van der Harst, Pim P; Dupuis, Josée J; Pedersen, Nancy L NL; Sattar, Naveed N; Harris, Tamara B TB; Cucca, Francesco F; Ripatti, Samuli S; Salomaa, Veikko V; Mohlke, Karen L KL; Balkau, Beverley B; Froguel, Philippe P; Pouta, Anneli A; Jarvelin, Marjo-Riitta MR; Wareham, Nicholas J NJ; Bouatia-Naji, Nabila N; McCarthy, Mark I MI; Franks, Paul W PW; Meigs, James B JB; Teslovich, Tanya M TM; Florez, Jose C JC; Langenberg, Claudia C; Ingelsson, Erik E; Prokopenko, Inga I; Barroso, Inês I
Publication Date: 2012-09

Variant appearance in text: GLS2: Leu581Pro; rs2657879
PubMed Link: 22885924
Variant Present in the following documents:
  • Main text
  • ukmss-49338.pdf
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Genetic determinants of metabolism in health and disease: from biochemical genetics to genome-wide associations.

Genome Medicine
Robinette, Steven L SL; Holmes, Elaine E; Nicholson, Jeremy K JK; Dumas, Marc E ME
Publication Date: 2012-04-30

Variant appearance in text: rs2657879
PubMed Link: 22546284
Variant Present in the following documents:
  • Main text
  • gm329.pdf
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Human metabolic individuality in biomedical and pharmaceutical research.

Nature
Suhre, Karsten K; Shin, So-Youn SY; Petersen, Ann-Kristin AK; Mohney, Robert P RP; Meredith, David D; Wägele, Brigitte B; Altmaier, Elisabeth E; , ; Deloukas, Panos P; Erdmann, Jeanette J; Grundberg, Elin E; Hammond, Christopher J CJ; de Angelis, Martin Hrabé MH; Kastenmüller, Gabi G; Köttgen, Anna A; Kronenberg, Florian F; Mangino, Massimo M; Meisinger, Christa C; Meitinger, Thomas T; Mewes, Hans-Werner HW; Milburn, Michael V MV; Prehn, Cornelia C; Raffler, Johannes J; Ried, Janina S JS; Römisch-Margl, Werner W; Samani, Nilesh J NJ; Small, Kerrin S KS; Wichmann, H-Erich HE; Zhai, Guangju G; Illig, Thomas T; Spector, Tim D TD; Adamski, Jerzy J; Soranzo, Nicole N; Gieger, Christian C
Publication Date: 2011-08-31

Variant appearance in text: rs2657879
PubMed Link: 21886157
Variant Present in the following documents:
  • Main text
View BVdb publication page