Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs139051

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs139051

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs139051

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs139051

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Effect of Omega-3 Polyunsaturated Fatty Acids on Lipid Metabolism in Patients With Metabolic Syndrome and NAFLD.

Hepatology Communications

Šmíd, Václav V; Dvořák, Karel K; Šedivý, Petr P; Kosek, Vít V; Leníček, Martin M; Dezortová, Monika M; Hajšlová, Jana J; Hájek, Milan M; Vítek, Libor L; Bechyňská, Kamila K; Brůha, Radan R

Publication Date: 2022-06

Variant appearance in text: rs139051

PubMed Link: 35147302

Variant Present in the following documents:

• HEP4-6-1336.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs139051

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The role of SAMM50 in non-alcoholic fatty liver disease: from genetics to mechanisms.

Febs Open Bio

Li, Zuyin Z; Shen, Weixing W; Wu, Gang G; Qin, Changjiang C; Zhang, Yijie Y; Wang, Yupeng Y; Song, Guohe G; Xiao, Chao C; Zhang, Xin X; Deng, Guilong G; Wang, Ruitao R; Wang, Xiaoliang X

Publication Date: 2021-07

Variant appearance in text: rs139051

PubMed Link: 33728819

Variant Present in the following documents:

• FEB4-11-1893.pdf

View BVdb publication page

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The role of SAMM50 in non-alcoholic fatty liver disease: from genetics to mechanisms.

Febs Open Bio

Li, Zuyin Z; Shen, Weixing W; Wu, Gang G; Qin, Changjiang C; Zhang, Yijie Y; Wang, Yupeng Y; Song, Guohe G; Xiao, Chao C; Zhang, Xin X; Deng, Guilong G; Wang, Ruitao R; Wang, Xiaoliang X

Publication Date: 2021-07

Variant appearance in text: rs139051

PubMed Link: 33728819

Variant Present in the following documents:

• FEB4-11-1893.pdf

View BVdb publication page

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Insights into genetic variants associated with NASH-fibrosis from metabolite profiling.

Human Molecular Genetics

Mann, Jake P JP; Pietzner, Maik M; Wittemans, Laura B LB; Rolfe, Emmanuela De Lucia EL; Kerrison, Nicola D ND; Imamura, Fumiaki F; Forouhi, Nita G NG; Fauman, Eric E; Allison, Michael E ME; Griffin, Jules L JL; Koulman, Albert A; Wareham, Nicholas J NJ; Langenberg, Claudia C

Publication Date: 2020-12-18

Variant appearance in text: rs139051

PubMed Link: 32720691

Variant Present in the following documents:

• ddaa162.pdf

View BVdb publication page

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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: rs139051

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: PNPLA3: 421-28A>G; rs139051

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

View BVdb publication page

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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: PNPLA3: 421-28A>G; rs139051

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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PNPLA3 rs139051 is associated with phospholipid metabolite profile and hepatic inflammation in nonalcoholic fatty liver disease.

World Journal Of Clinical Cases

Luo, Ji-Jun JJ; Cao, Hai-Xia HX; Yang, Rui-Xu RX; Zhang, Rui-Nan RN; Pan, Qin Q

Publication Date: 2018-09-26

Variant appearance in text: rs139051

PubMed Link: 30283798

Variant Present in the following documents:

• Main text
• WJCC-6-355.pdf

View BVdb publication page

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Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population.

Gut And Liver

Chung, Goh Eun GE; Lee, Young Y; Yim, Jeong Yoon JY; Choe, Eun Kyung EK; Kwak, Min-Sun MS; Yang, Jong In JI; Park, Boram B; Lee, Jong-Eun JE; Kim, Jeong A JA; Kim, Joo Sung JS

Publication Date: 2018-05-15

Variant appearance in text: rs139051

PubMed Link: 29271184

Variant Present in the following documents:

• Main text
• gnl-12-316.pdf

View BVdb publication page

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PNPLA3 rs1010023 Predisposes Chronic Hepatitis B to Hepatic Steatosis but Improves Insulin Resistance and Glucose Metabolism.

Journal Of Diabetes Research

Pan, Qin Q; Chen, Mei-Mei MM; Zhang, Rui-Nan RN; Wang, Yu-Qin YQ; Zheng, Rui-Dan RD; Mi, Yu-Qiang YQ; Liu, Wen-Bin WB; Shen, Feng F; Su, Qing Q; Fan, Jian-Gao JG

Publication Date: 2017

Variant appearance in text: rs139051

PubMed Link: 28695131

Variant Present in the following documents:

• Main text
• JDR2017-4740124.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: rs139051

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Transcriptional regulation of PNPLA3 and its impact on susceptibility to nonalcoholic fatty liver Disease (NAFLD) in humans.

Aging

Liu, Wanqing W; Anstee, Quentin M QM; Wang, Xiaoliang X; Gawrieh, Samer S; Gamazon, Eric R ER; Athinarayanan, Shaminie S; Liu, Yang-Lin YL; Darlay, Rebecca R; Cordell, Heather J HJ; Daly, Ann K AK; Day, Chris P CP; Chalasani, Naga N

Publication Date: 2016-10-13

Variant appearance in text: rs139051

PubMed Link: 27744419

Variant Present in the following documents:

• Main text
• aging-09-0026.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: 421-28A>G; rs139051

PubMed Link: 26740948

Variant Present in the following documents:

• Main text
• MGG3-3-558.pdf

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: rs139051

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.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: rs139051

PubMed Link: 26229402

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in PNPLA3 and risk of non-alcoholic fatty liver disease in a Han Chinese population.

Plos One

Peng, Xian-E XE; Wu, Yun-Li YL; Lin, Shao-Wei SW; Lu, Qing-Qing QQ; Hu, Zhi-Jian ZJ; Lin, Xu X

Publication Date: 2012

Variant appearance in text: rs139051

PubMed Link: 23226254

Variant Present in the following documents:

• Main text
• pone.0050256.pdf

View BVdb publication page

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Genetic variance in the adiponutrin gene family and childhood obesity.

Plos One

Johansson, Lovisa E LE; Johansson, Lina M LM; Danielsson, Pernilla P; Norgren, Svante S; Johansson, Stina S; Marcus, Claude C; Ridderstråle, Martin M

Publication Date: 2009

Variant appearance in text: rs139051

PubMed Link: 19390624

Variant Present in the following documents:

• Main text

View BVdb publication page

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