Publications:

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Genetics in non-alcoholic fatty liver disease: The role of risk alleles through the lens of immune response.

Clinical And Molecular Hepatology

Sookoian, Silvia S; Pirola, Carlos J CJ

Publication Date: 2022-12-05

Variant appearance in text: GCKR: Arg227Ter; rs149847328

PubMed Link: 36472053

Variant Present in the following documents:

• Main text
• cmh-2022-0318.pdf

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Pleiotropic Effects of Common and Rare GCKR Exonic Mutations on Cardiometabolic Traits.

Genes

Yeh, Kuan-Hung KH; Hsu, Lung-An LA; Teng, Ming-Sheng MS; Wu, Semon S; Chou, Hsin-Hua HH; Ko, Yu-Lin YL

Publication Date: 2022-03-10

Variant appearance in text: GCKR: Arg227Ter; rs149847328

PubMed Link: 35328045

Variant Present in the following documents:

• Main text
• genes-13-00491.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: GCKR: 679C>T; R227*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Precision medicine in nonalcoholic fatty liver disease: New therapeutic insights from genetics and systems biology.

Clinical And Molecular Hepatology

Sookoian, Silvia S; Pirola, Carlos J CJ

Publication Date: 2020-10

Variant appearance in text: GCKR: Arg227Ter; rs149847328

PubMed Link: 32906228

Variant Present in the following documents:

• Main text
• cmh-2020-0136.pdf

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: GCKR: 679C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: GCKR: 679C>T; Arg227Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Pathways in Nonalcoholic Fatty Liver Disease: Insights From Systems Biology.

Hepatology (Baltimore, Md.)

Sookoian, Silvia S; Pirola, Carlos J CJ; Valenti, Luca L; Davidson, Nicholas O NO

Publication Date: 2020-07

Variant appearance in text: GCKR: Arg227Ter; rs149847328

PubMed Link: 32170962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: GCKR: 679C>T; Arg227Ter

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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An intronic variant in the GCKR gene is associated with multiple lipids.

Scientific Reports

Fernandes Silva, Lilian L; Vangipurapu, Jagadish J; Kuulasmaa, Teemu T; Laakso, Markku M

Publication Date: 2019-07-15

Variant appearance in text: GCKR: Arg227Ter

PubMed Link: 31308433

Variant Present in the following documents:

• Main text
• 41598_2019_Article_46750.pdf

View BVdb publication page

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A Rare Nonsense Mutation in the Glucokinase Regulator Gene Is Associated With a Rapidly Progressive Clinical Form of Nonalcoholic Steatohepatitis.

Hepatology Communications

Pirola, Carlos J CJ; Flichman, Diego D; Dopazo, Hernán H; Fernández Gianotti, Tomas T; San Martino, Julio J; Rohr, Cristian C; Garaycoechea, Martin M; Gazzi, Carla C; Castaño, Gustavo O GO; Sookoian, Silvia S

Publication Date: 2018-09

Variant appearance in text: GCKR: Arg227Ter; rs149847328

PubMed Link: 30202818

Variant Present in the following documents:

• Main text
• HEP4-2-1030.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: GCKR: R227X

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GCKR: 679C>T; R227*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: GCKR: 679C>T; R227*; rs149847328

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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