Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: PNPLA3: 1358G>T; Ser453Ile; rs6006460

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Genetic Polymorphisms and Diversity in Nonalcoholic Fatty Liver Disease (NAFLD): A Mini Review.

Biomedicines

Sulaiman, Siti Aishah SA; Dorairaj, Vicneswarry V; Adrus, Muhammad Nafiz Haidi MNH

Publication Date: 2022-12-30

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 36672614

Variant Present in the following documents:

• Main text
• biomedicines-11-00106.pdf

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Nonalcoholic Fatty Liver Disease in Lean/Nonobese and Obese Individuals: A Comprehensive Review on Prevalence, Pathogenesis, Clinical Outcomes, and Treatment.

Journal Of Clinical And Translational Hepatology

Patel, Ankoor H AH; Peddu, Dhiraj D; Amin, Sahil S; Elsaid, Mohamed I MI; Minacapelli, Carlos D CD; Chandler, Toni-Marie TM; Catalano, Carolyn C; Rustgi, Vinod K VK

Publication Date: 2023-04-28

Variant appearance in text: rs6006460

PubMed Link: 36643037

Variant Present in the following documents:

• Main text
• JCTH-11-502.pdf

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Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Cell Reports. Medicine

Park, Joseph J; MacLean, Matthew T MT; Lucas, Anastasia M AM; Torigian, Drew A DA; Schneider, Carolin V CV; Cherlin, Tess T; Xiao, Brenda B; Miller, Jason E JE; Bradford, Yuki Y; Judy, Renae L RL; , ; Verma, Anurag A; Damrauer, Scott M SM; Ritchie, Marylyn D MD; Witschey, Walter R WR; Rader, Daniel J DJ

Publication Date: 2022-12-06

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 36513072

Variant Present in the following documents:

• Main text
• mmc3.xlsx, sheet 2
• main.pdf
• mmc3.xlsx, sheet 1
• mmc8.pdf
• mmc4.xlsx, sheet 1

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Race and Ethnicity in Non-Alcoholic Fatty Liver Disease (NAFLD): A Narrative Review.

Nutrients

Riazi, Kiarash K; Swain, Mark G MG; Congly, Stephen E SE; Kaplan, Gilaad G GG; Shaheen, Abdel-Aziz AA

Publication Date: 2022-10-28

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 36364818

Variant Present in the following documents:

• Main text
• nutrients-14-04556.pdf

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Noninvasive tests for nonalcoholic fatty liver disease in a multi-ethnic population: The HELIUS study.

Hepatology Communications

van Dijk, Anne-Marieke AM; Vali, Yasaman Y; Mak, Anne Linde AL; Galenkamp, Henrike H; Nieuwdorp, Max M; van den Born, Bert-Jan BJ; Holleboom, Adriaan Georgius AG

Publication Date: 2022-11-05

Variant appearance in text: PNPLA3: S453I

PubMed Link: 36333949

Variant Present in the following documents:

• Main text
• hc9-7-e2109.pdf

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Contribution of a genetic risk score to ethnic differences in fatty liver disease.

Liver International : Official Journal Of The International Association For The Study Of The Liver

Kubiliun, Maddie J MJ; Cohen, Jonathan C JC; Hobbs, Helen H HH; Kozlitina, Julia J

Publication Date: 2022-10

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 35620859

Variant Present in the following documents:

• Main text
• NIHMS1811870-supplement-Supinfo.pdf
• nihms-1811870.pdf

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Platelets in Non-alcoholic Fatty Liver Disease.

Frontiers In Pharmacology

Dalbeni, Andrea A; Castelli, Marco M; Zoncapè, Mirko M; Minuz, Pietro P; Sacerdoti, David D

Publication Date: 2022

Variant appearance in text: PNPLA3: S453I

PubMed Link: 35250588

Variant Present in the following documents:

• Main text
• fphar-13-842636.pdf

View BVdb publication page

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Progressive Liver Fibrosis in Non-Alcoholic Fatty Liver Disease.

Cells

Ramai, Daryl D; Facciorusso, Antonio A; Vigandt, Erika E; Schaf, Bryan B; Saadedeen, Waleed W; Chauhan, Aditya A; di Nunzio, Sara S; Shah, Aashni A; Giacomelli, Luca L; Sacco, Rodolfo R

Publication Date: 2021-12-02

Variant appearance in text: PNPLA3: S453I

PubMed Link: 34943908

Variant Present in the following documents:

• Main text

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Heterogeneity of non-alcoholic fatty liver disease: Implications for clinical practice and research activity.

World Journal Of Hepatology

Pal, Partha P; Palui, Rajan R; Ray, Sayantan S

Publication Date: 2021-11-27

Variant appearance in text: rs6006460

PubMed Link: 34904031

Variant Present in the following documents:

• Main text
• WJH-13-1584.pdf

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Targeting miRNA by Natural Products: A Novel Therapeutic Approach for Nonalcoholic Fatty Liver.

Evidence-Based Complementary And Alternative Medicine : Ecam

Zobeiri, Mehdi M; Parvizi, Fatemeh F; Kalhori, Mohammad Reza MR; Majnooni, Mohammad Bagher MB; Farzaei, Mohammad Hosein MH; Abdollahi, Mohammad M

Publication Date: 2021

Variant appearance in text: rs6006460

PubMed Link: 34426744

Variant Present in the following documents:

• Main text

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Non-Alcoholic Fatty Liver Disease in Children.

Medicina (Kaunas, Lithuania)

Brecelj, Jernej J; Orel, Rok R

Publication Date: 2021-07-16

Variant appearance in text: PNPLA3: S453I

PubMed Link: 34357000

Variant Present in the following documents:

• Main text
• medicina-57-00719.pdf

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Diversity in NAFLD: A Review of Manifestations of Nonalcoholic Fatty Liver Disease in Different Ethnicities Globally.

Journal Of Clinical And Translational Hepatology

Han, Ma Ai Thanda MAT; Yu, Qi Q; Tafesh, Zaid Z; Pyrsopoulos, Nikolaos N

Publication Date: 2021-02-28

Variant appearance in text: rs6006460

PubMed Link: 33604257

Variant Present in the following documents:

• Main text
• JCTH-9-071.pdf

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Genetic and epigenetic disease modifiers: non-alcoholic fatty liver disease (NAFLD) and alcoholic liver disease (ALD).

Translational Gastroenterology And Hepatology

Choudhary, Narendra Singh NS; Duseja, Ajay A

Publication Date: 2021

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 33409397

Variant Present in the following documents:

• Main text

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Nonalcoholic fatty liver disease (NAFLD) from pathogenesis to treatment concepts in humans.

Molecular Metabolism

Pafili, Kalliopi K; Roden, Michael M

Publication Date: 2021-08

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 33220492

Variant Present in the following documents:

• Main text
• main.pdf

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Molecular Mechanisms: Connections between Nonalcoholic Fatty Liver Disease, Steatohepatitis and Hepatocellular Carcinoma.

International Journal Of Molecular Sciences

Kanda, Tatsuo T; Goto, Taichiro T; Hirotsu, Yosuke Y; Masuzaki, Ryota R; Moriyama, Mitsuhiko M; Omata, Masao M

Publication Date: 2020-02-23

Variant appearance in text: PNPLA3: S453I

PubMed Link: 32102237

Variant Present in the following documents:

• Main text
• ijms-21-01525.pdf

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Prevalence, trends, outcomes, and disparities in hospitalizations for nonalcoholic fatty liver disease in the United States.

Annals Of Gastroenterology

Adejumo, Adeyinka Charles AC; Samuel, Gbeminiyi Olanrewaju GO; Adegbala, Oluwole Muyiwa OM; Adejumo, Kelechi Lauretta KL; Ojelabi, Ogooluwa O; Akanbi, Olalekan O; Ogundipe, Olumuyiwa Akinbolaji OA; Pani, Lydie L

Publication Date: 2019

Variant appearance in text: rs6006460

PubMed Link: 31474798

Variant Present in the following documents:

• Main text

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Recent Insights Into the Multiple Pathways Driving Non-alcoholic Steatohepatitis-Derived Hepatocellular Carcinoma.

Frontiers In Oncology

Takakura, Kazuki K; Oikawa, Tsunekazu T; Nakano, Masanori M; Saeki, Chisato C; Torisu, Yuichi Y; Kajihara, Mikio M; Saruta, Masayuki M

Publication Date: 2019

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 31456946

Variant Present in the following documents:

• Main text
• fonc-09-00762.pdf

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Genetic Polymorphisms Implicated in Nonalcoholic Liver Disease or Selected Other Disorders Have No Influence on Drug-Induced Liver Injury.

Hepatology Communications

Bonkovsky, Herbert L HL; Severson, Tyler T; Nicoletti, Paola P; Barnhart, Huiman H; Serrano, Jose J; Chalasani, Naga N; Fontana, Robert J RJ; Watkins, Paul B PB; Navarro, Victor V; Stolz, Andrew A; Daly, Ann K AK; Aithal, Guruparasad P GP; Odin, Joseph J; ,

Publication Date: 2019-08

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 31388624

Variant Present in the following documents:

• Main text
• HEP4-3-1032.pdf

View BVdb publication page

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Obesity genetics and cardiometabolic health: Potential for risk prediction.

Diabetes, Obesity & Metabolism

Sanghera, Dharambir K DK; Bejar, Cynthia C; Sharma, Sonali S; Gupta, Rajeev R; Blackett, Piers R PR

Publication Date: 2019-05

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 30667137

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenesis of non-alcoholic fatty liver disease in children and adolescence: From "two hit theory" to "multiple hit model".

World Journal Of Gastroenterology

Fang, Yan-Lan YL; Chen, Hong H; Wang, Chun-Lin CL; Liang, Li L

Publication Date: 2018-07-21

Variant appearance in text: PNPLA3: S453I

PubMed Link: 30038464

Variant Present in the following documents:

• Main text
• WJG-24-2974.pdf

View BVdb publication page

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The role of NAFLD in cardiometabolic disease: an update.

F1000Research

Faasse, Sarah S; Braun, Hayley H; Vos, Miriam M

Publication Date: 2018

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 29497497

Variant Present in the following documents:

• Main text
• f1000research-7-13013.pdf

View BVdb publication page

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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

View BVdb publication page

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NAFLD Susceptibility Genes and their Association with Type 2 Diabetes and Obesity in a New Mexico Population.

Journal Of Diabetes And Obesity

Garner, Cara J CJ; Conn, Carole A CA; Cohen, Deborah D; Luo, Li L; Castillo, Joseph J JJ; Shah, Vallabh O VO; Garver, William S WS

Publication Date: 2015

Variant appearance in text: rs6006460

PubMed Link: 28596988

Variant Present in the following documents:

• Main text

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: rs6006460

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

View BVdb publication page

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Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

Clinical Pharmacology And Therapeutics

Liu, Y Y; Fernandez, C A CA; Smith, C C; Yang, W W; Cheng, C C; Panetta, J C JC; Kornegay, N N; Liu, C C; Ramsey, L B LB; Karol, S E SE; Janke, L J LJ; Larsen, E C EC; Winick, N N; Carroll, W L WL; Loh, M L ML; Raetz, E A EA; Hunger, S P SP; Devidas, M M; Yang, J J JJ; Mullighan, C G CG; Zhang, J J; Evans, W E WE; Jeha, S S; Pui, C-H CH; Relling, M V MV

Publication Date: 2017-07

Variant appearance in text: rs6006460

PubMed Link: 28090653

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nonalcoholic Fatty Liver Disease: Pathophysiology and Management.

Gastroenterology Clinics Of North America

Carr, Rotonya M RM; Oranu, Amanke A; Khungar, Vandana V

Publication Date: 2016-12

Variant appearance in text: PNPLA3: S453I

PubMed Link: 27837778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review.

World Journal Of Gastroenterology

Severson, Tyler J TJ; Besur, Siddesh S; Bonkovsky, Herbert L HL

Publication Date: 2016-08-07

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 27547017

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Guide to Non-Alcoholic Fatty Liver Disease in Childhood and Adolescence.

International Journal Of Molecular Sciences

Temple, Jonathan L JL; Cordero, Paul P; Li, Jiawei J; Nguyen, Vi V; Oben, Jude A JA

Publication Date: 2016-06-15

Variant appearance in text: rs6006460

PubMed Link: 27314342

Variant Present in the following documents:

• Main text
• ijms-17-00947.pdf

View BVdb publication page

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Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Molecular Genetics & Genomic Medicine

Edelman, Deborah D; Kalia, Harmit H; Delio, Maria M; Alani, Mustafa M; Krishnamurthy, Karthik K; Abd, Mortadha M; Auton, Adam A; Wang, Tao T; Wolkoff, Allan W AW; Morrow, Bernice E BE

Publication Date: 2015-11

Variant appearance in text: PNPLA3: 1358G>T; rs6006460

PubMed Link: 26740948

Variant Present in the following documents:

• Main text
• MGG3-3-558.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: rs6006460

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Linked PNPLA3 polymorphisms confer susceptibility to nonalcoholic steatohepatitis and decreased viral load in chronic hepatitis B.

World Journal Of Gastroenterology

Pan, Qin Q; Zhang, Rui-Nan RN; Wang, Yu-Qin YQ; Zheng, Rui-Dan RD; Mi, Yu-Qiang YQ; Liu, Wen-Bin WB; Shen, Feng F; Chen, Guang-Yu GY; Lu, Jia-Fa JF; Zhu, Chan-Yan CY; Zhang, Shu-Yi SY; Chen, Yi-Ming YM; Sun, Wan-Lu WL; Fan, Jian-Gao JG

Publication Date: 2015-07-28

Variant appearance in text: rs6006460

PubMed Link: 26229402

Variant Present in the following documents:

• Main text

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: PNPLA3: S453I

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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4Ps medicine of the fatty liver: the research model of predictive, preventive, personalized and participatory medicine-recommendations for facing obesity, fatty liver and fibrosis epidemics.

The Epma Journal

Trovato, Francesca Maria FM; Catalano, Daniela D; Musumeci, Giuseppe G; Trovato, Guglielmo M GM

Publication Date: 2014

Variant appearance in text: PNPLA3: S453I

PubMed Link: 25937854

Variant Present in the following documents:

• Main text
• 13167_2014_Article_5218.pdf

View BVdb publication page

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Association between the PNPLA3 I148M polymorphism and non-alcoholic fatty liver disease in the Uygur and Han ethnic groups of northwestern China.

Plos One

Zhang, Yuexin Y; Cai, Wen W; Song, Jiangmei J; Miao, Lei L; Zhang, Bei B; Xu, Qin Q; Zhang, Lijuan L; Yao, Hua H

Publication Date: 2014

Variant appearance in text: rs6006460

PubMed Link: 25290313

Variant Present in the following documents:

• Main text
• pone.0108381.pdf

View BVdb publication page

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Gender and racial differences in nonalcoholic fatty liver disease.

World Journal Of Hepatology

Pan, Jen-Jung JJ; Fallon, Michael B MB

Publication Date: 2014-05-27

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 24868321

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: PNPLA3: S453I

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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Chemical modulation of glycerolipid signaling and metabolic pathways.

Biochimica Et Biophysica Acta

Scott, Sarah A SA; Mathews, Thomas P TP; Ivanova, Pavlina T PT; Lindsley, Craig W CW; Brown, H Alex HA

Publication Date: 2014-08

Variant appearance in text: PNPLA3: S453I

PubMed Link: 24440821

Variant Present in the following documents:

• Main text

View BVdb publication page

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Racial/ethnic differences in hepatic steatosis in a population-based cohort of post-menopausal women: the Michigan Study of Women's Health Across the Nation.

Diabetic Medicine : A Journal Of The British Diabetic Association

Kim, C C; Harlow, S D SD; Karvonen-Gutierrez, C A CA; Randolph, J F JF; Helmuth, M M; Kong, S S; Nan, B B; Carlos, R R

Publication Date: 2013-12

Variant appearance in text: rs6006460

PubMed Link: 23659546

Variant Present in the following documents:

• Main text

View BVdb publication page

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Current concepts and management approaches in nonalcoholic fatty liver disease.

Thescientificworldjournal

Attar, Bashar M BM; Van Thiel, David H DH

Publication Date: 2013

Variant appearance in text: PNPLA3: S453I

PubMed Link: 23576902

Variant Present in the following documents:

• Main text
• TSWJ2013-481893.pdf

View BVdb publication page

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Genetic predisposition in NAFLD and NASH: impact on severity of liver disease and response to treatment.

Current Pharmaceutical Design

Dongiovanni, Paola P; Anstee, Quentin M QM; Valenti, Luca L

Publication Date: 2013

Variant appearance in text: rs6006460

PubMed Link: 23394097

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of cardiometabolic risk: a proposed model for phenotype association and interaction.

Journal Of Clinical Lipidology

Blackett, Piers R PR; Sanghera, Dharambir K DK

Publication Date: 2013

Variant appearance in text: adiponutrin: S453I

PubMed Link: 23351585

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic signatures in choline and 1-carbon metabolism are associated with the severity of hepatic steatosis.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Corbin, Karen D KD; Abdelmalek, Manal F MF; Spencer, Melanie D MD; da Costa, Kerry-Ann KA; Galanko, Joseph A JA; Sha, Wei W; Suzuki, Ayako A; Guy, Cynthia D CD; Cardona, Diana M DM; Torquati, Alfonso A; Diehl, Anna Mae AM; Zeisel, Steven H SH

Publication Date: 2013-04

Variant appearance in text: rs6006460

PubMed Link: 23292069

Variant Present in the following documents:

• Main text

View BVdb publication page

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PNPLA3, the triacylglycerol synthesis/hydrolysis/storage dilemma, and nonalcoholic fatty liver disease.

World Journal Of Gastroenterology

Sookoian, Silvia S; Pirola, Carlos J CJ

Publication Date: 2012-11-14

Variant appearance in text: PNPLA3: S453I; rs6006460

PubMed Link: 23155331

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sex and race differences in the prevalence of fatty liver disease as measured by computed tomography liver attenuation in European American and African American participants of the NHLBI family heart study.

European Journal Of Gastroenterology & Hepatology

North, Kari E KE; Graff, Mariaelisa M; Franceschini, Nora N; Reiner, Alexander P AP; Feitosa, Mary F MF; Carr, John Jeffrey JJ; Gordon-Larsen, Penny P; Wojczynski, Mary K MK; Borecki, Ingrid B IB

Publication Date: 2012-01

Variant appearance in text: rs6006460

PubMed Link: 21900826

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease.

The Journal Of Biological Chemistry

Huang, Yongcheng Y; Cohen, Jonathan C JC; Hobbs, Helen H HH

Publication Date: 2011-10-28

Variant appearance in text: PNPLA3: S453I

PubMed Link: 21878620

Variant Present in the following documents:

• Main text
• zbc37085.pdf

View BVdb publication page

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Genetic determinants of hepatic steatosis in man.

Journal Of Lipid Research

Hooper, Amanda J AJ; Adams, Leon A LA; Burnett, John R JR

Publication Date: 2011-04

Variant appearance in text: PNPLA3: S453I

PubMed Link: 21245030

Variant Present in the following documents:

• Main text

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Pediatric nonalcoholic fatty liver disease: A clinical and laboratory challenge.

World Journal Of Hepatology

Pacifico, Lucia L; Poggiogalle, Eleonora E; Cantisani, Vito V; Menichini, Guendalina G; Ricci, Paolo P; Ferraro, Flavia F; Chiesa, Claudio C

Publication Date: 2010-07-27

Variant appearance in text: rs6006460

PubMed Link: 21161009

Variant Present in the following documents:

• Main text

View BVdb publication page

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