Publications:

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THADA, SDHAF4, and MACF1 Gene Polymorphisms and Placental Expression in Women with Gestational Diabetes.

Genes

Ustianowski, Przemysław P; Malinowski, Damian D; Czerewaty, Michał M; Safranow, Krzysztof K; Tarnowski, Maciej M; Dziedziejko, Violetta V; Pawlik, Andrzej A

Publication Date: 2022-12-27

Variant appearance in text: rs1048886

PubMed Link: 36672824

Variant Present in the following documents:

• Main text
• genes-14-00083.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: SDHAF4: 137A>G; Gln46Arg; rs1048886

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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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: SDHAF4: Q46R; rs1048886

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: SDHAF4: Q46R

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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Deep Learning Improves Pancreatic Cancer Diagnosis Using RNA-Based Variants.

Cancers

Al-Fatlawi, Ali A; Malekian, Negin N; García, Sebastián S; Henschel, Andreas A; Kim, Ilwook I; Dahl, Andreas A; Jahnke, Beatrix B; Bailey, Peter P; Bolz, Sarah Naomi SN; Poetsch, Anna R AR; Mahler, Sandra S; Grützmann, Robert R; Pilarsky, Christian C; Schroeder, Michael M

Publication Date: 2021-05-28

Variant appearance in text: rs1048886

PubMed Link: 34071263

Variant Present in the following documents:

• Main text
• cancers-13-02654.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: C6orf57: 137A>G; rs1048886

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: SDHAF4: 137A>G; Q46R; rs1048886

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: SDHAF4: Q46R; rs1048886

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: C6orf57: Q46R

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Pure additive contribution of genetic variants to a risk prediction model using propensity score matching: application to type 2 diabetes.

Genomics & Informatics

Park, Chanwoo C; Jiang, Nan N; Park, Taesung T

Publication Date: 2019-12

Variant appearance in text: rs1048886

PubMed Link: 31896247

Variant Present in the following documents:

• Main text
• gi-2019-17-4-e47.pdf

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: C6orf57: 137A>G

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 8
• Supplementary_Data2.xlsx, sheet 2
• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 4
• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 5
• Supplementary_Data2.xlsx, sheet 6

View BVdb publication page

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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: C6orf57: Q46R; rs1048886

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Alternative assembly of respiratory complex II connects energy stress to metabolic checkpoints.

Nature Communications

Bezawork-Geleta, Ayenachew A; Wen, He H; Dong, LanFeng L; Yan, Bing B; Vider, Jelena J; Boukalova, Stepana S; Krobova, Linda L; Vanova, Katerina K; Zobalova, Renata R; Sobol, Margarita M; Hozak, Pavel P; Novais, Silvia Magalhaes SM; Caisova, Veronika V; Abaffy, Pavel P; Naraine, Ravindra R; Pang, Ying Y; Zaw, Thiri T; Zhang, Ping P; Sindelka, Radek R; Kubista, Mikael M; Zuryn, Steven S; Molloy, Mark P MP; Berridge, Michael V MV; Pacak, Karel K; Rohlena, Jakub J; Park, Sunghyouk S; Neuzil, Jiri J

Publication Date: 2018-06-07

Variant appearance in text: rs1048886

PubMed Link: 29880867

Variant Present in the following documents:

• 41467_2018_4603_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Influence of genetic ancestry and socioeconomic status on type 2 diabetes in the diverse Colombian populations of Chocó and Antioquia.

Scientific Reports

Chande, Aroon T AT; Rowell, Jessica J; Rishishwar, Lavanya L; Conley, Andrew B AB; Norris, Emily T ET; Valderrama-Aguirre, Augusto A; Medina-Rivas, Miguel A MA; Jordan, I King IK

Publication Date: 2017-12-07

Variant appearance in text: rs1048886

PubMed Link: 29215035

Variant Present in the following documents:

• 41598_2017_17380_MOESM1_ESM.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1048886

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Risk Prediction Using Genome-Wide Association Studies on Type 2 Diabetes.

Genomics & Informatics

Choi, Sungkyoung S; Bae, Sunghwan S; Park, Taesung T

Publication Date: 2016-12

Variant appearance in text: rs1048886

PubMed Link: 28154504

Variant Present in the following documents:

• gni-14-138.pdf

View BVdb publication page

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Recent progress in genetic and epigenetic research on type 2 diabetes.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Park, Kyong Soo KS

Publication Date: 2016-03-11

Variant appearance in text: rs1048886

PubMed Link: 26964836

Variant Present in the following documents:

• Main text
• emm20167a.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: rs1048886

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: C6orf57: Q46R; rs1048886

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports

Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V

Publication Date: 2015-10-13

Variant appearance in text: C6orf57: Q46R; rs1048886

PubMed Link: 26440892

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China.

Journal Of Diabetes Research

Bai, Haihua H; Liu, Haiping H; Suyalatu, Suyalatu S; Guo, Xiaosen X; Chu, Shandan S; Chen, Ying Y; Lan, Tianming T; Borjigin, Burenbatu B; Orlov, Yuriy L YL; Posukh, Olga L OL; Yang, Xiuqin X; Guilan, Guilan G; Osipova, Ludmila P LP; Wu, Qizhu Q; Narisu, Narisu N

Publication Date: 2015

Variant appearance in text: rs1048886

PubMed Link: 26290879

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: C6orf57: Q46R; rs1048886

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetics of type 2 diabetes-pitfalls and possibilities.

Genes

Prasad, Rashmi B RB; Groop, Leif L

Publication Date: 2015-03-12

Variant appearance in text: rs1048886

PubMed Link: 25774817

Variant Present in the following documents:

• Main text
• genes-06-00087.pdf

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: C6orf57: Q46R; rs1048886

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

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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: C6orf57: Q46R; rs1048886

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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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: C6orf57: Q46R; rs1048886

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 9
• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 1
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
• supp_gku1005_nar-01266-met-n-2014-File014.xlsx, sheet 3
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 24

View BVdb publication page

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A comparison of type 2 diabetes risk allele load between African Americans and European Americans.

Human Genetics

Keaton, Jacob M JM; Cooke Bailey, Jessica N JN; Palmer, Nicholette D ND; Freedman, Barry I BI; Langefeld, Carl D CD; Ng, Maggie C Y MC; Bowden, Donald W DW

Publication Date: 2014-12

Variant appearance in text: rs1048886

PubMed Link: 25273842

Variant Present in the following documents:

• Main text

View BVdb publication page

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Does genetic heterogeneity account for the divergent risk of type 2 diabetes in South Asian and white European populations?

Diabetologia

Sohani, Zahra N ZN; Deng, Wei Q WQ; Pare, Guillaume G; Meyre, David D; Gerstein, Hertzel C HC; Anand, Sonia S SS

Publication Date: 2014-11

Variant appearance in text: rs1048886

PubMed Link: 25145545

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insights into the genetic basis of type 2 diabetes.

Journal Of Diabetes Investigation

Kato, Norihiro N

Publication Date: 2013-05-06

Variant appearance in text: rs1048886

PubMed Link: 24843659

Variant Present in the following documents:

• Main text
• jdi-4-233.pdf

View BVdb publication page

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Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing.

Plos Genetics

Wong, Lai-Ping LP; Lai, Jason Kuan-Han JK; Saw, Woei-Yuh WY; Ong, Rick Twee-Hee RT; Cheng, Anthony Youzhi AY; Pillai, Nisha Esakimuthu NE; Liu, Xuanyao X; Xu, Wenting W; Chen, Peng P; Foo, Jia-Nee JN; Tan, Linda Wei-Lin LW; Koo, Seok-Hwee SH; Soong, Richie R; Wenk, Markus Rene MR; Lim, Wei-Yen WY; Khor, Chiea-Chuen CC; Little, Peter P; Chia, Kee-Seng KS; Teo, Yik-Ying YY

Publication Date: 2014-05

Variant appearance in text: rs1048886

PubMed Link: 24832686

Variant Present in the following documents:

• Main text

View BVdb publication page

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The architecture of risk for type 2 diabetes: understanding Asia in the context of global findings.

International Journal Of Endocrinology

Abdullah, Noraidatulakma N; Attia, John J; Oldmeadow, Christopher C; Scott, Rodney J RJ; Holliday, Elizabeth G EG

Publication Date: 2014

Variant appearance in text: rs1048886

PubMed Link: 24744783

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: C6orf57: Q46R

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

View BVdb publication page

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The new perspectives on genetic studies of type 2 diabetes and thyroid diseases.

Current Genomics

Xu, Min M; Bi, Yufang Y; Cui, Bin B; Hong, Jie J; Wang, Weiqing W; Ning, Guang G

Publication Date: 2013-03

Variant appearance in text: rs1048886

PubMed Link: 23997649

Variant Present in the following documents:

• Main text
• CG-14-33.pdf

View BVdb publication page

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Type 2 Diabetes Genetics: Beyond GWAS.

Journal Of Diabetes & Metabolism

Sanghera, Dharambir K DK; Blackett, Piers R PR

Publication Date: 2012-06-23

Variant appearance in text: rs1048886

PubMed Link: 23243555

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.

Plos Genetics

Sim, Xueling X; Ong, Rick Twee-Hee RT; Suo, Chen C; Tay, Wan-Ting WT; Liu, Jianjun J; Ng, Daniel Peng-Keat DP; Boehnke, Michael M; Chia, Kee-Seng KS; Wong, Tien-Yin TY; Seielstad, Mark M; Teo, Yik-Ying YY; Tai, E-Shyong ES

Publication Date: 2011-04

Variant appearance in text: rs1048886

PubMed Link: 21490949

Variant Present in the following documents:

• Main text
• pgen.1001363.pdf

View BVdb publication page

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