Publications:

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Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis.

Frontiers In Pharmacology

Xie, Shuying S; Wei, Shizhang S; Ma, Xiao X; Wang, Ruilin R; He, Tingting T; Zhang, Zhao Z; Yang, Ju J; Wang, Jiawei J; Chang, Lei L; Jing, Manyi M; Li, Haotian H; Zhou, Xuelin X; Zhao, Yanling Y

Publication Date: 2023

Variant appearance in text: UGT1A1: P364L

PubMed Link: 37324459

Variant Present in the following documents:

• fphar-14-1173542.pdf

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: UGT1A1: P364L; rs34946978

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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UGT1A1 variants in Chinese Uighur and Han newborns and its correlation with neonatal hyperbilirubinemia.

Plos One

Yang, Hui H; Li, Huijun H; Xia, Qingyao Q; Dai, Wencheng W; Li, Xin X; Liu, Yan Y; Nie, Jie J; Yang, Fei F; Sun, Yunfeng Y; Feng, Lei L; Yang, Liye L

Publication Date: 2022

Variant appearance in text: UGT1A1: 1091C>T; Pro364Leu; rs34946978

PubMed Link: 36520959

Variant Present in the following documents:

• Main text
• pone.0279059.pdf

View BVdb publication page

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A novel pathogenesis concept of biliary atresia approached by combined molecular strategies.

Plos One

Laochareonsuk, Wison W; Surachat, Komwit K; Chiengkriwate, Piyawan P; Sangkhathat, Surasak S

Publication Date: 2022

Variant appearance in text: UGT1A1: 1091C>T; Pro364Leu; rs34946978

PubMed Link: 36350824

Variant Present in the following documents:

• Main text
• pone.0277334.pdf

View BVdb publication page

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Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.

Journal Of Human Genetics

Zhou, Tai-Cheng TC; Li, Xiao X; Li, Hui H; Liu, Feng-Wei FW; Zhang, Si-Hang SH; Fan, Jing-Hua JH; Yang, Wen-Xiu WX; Yang, Ya-Li YL; Zhang, Liang L; Wei, Jia J

Publication Date: 2022-10-24

Variant appearance in text: UGT1A1: Pro364Leu

PubMed Link: 36274106

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1086.pdf

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: UGT1A1: 1091C>T; P364L

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Bmc Medical Genomics

Miao, Mingzhu M; Lu, Shoulian S; Sun, Xiao X; Zhao, Meng M; Wang, Jue J; Su, Xiaotan X; Jin, Bai B; Sun, Lizhou L

Publication Date: 2022-07-13

Variant appearance in text: UGT1A6: 1088C>T; P363L; rs34946978

PubMed Link: 35831859

Variant Present in the following documents:

• 12920_2022_1311_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: UGT1A6: 1088C>T; P363L

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey.

Turkish Archives Of Pediatrics

Çağan Appak, Yeliz Y; Aksoy, Betül B; Özyılmaz, Berk B; Özdemir, Taha Reşid TR; Baran, Maşallah M

Publication Date: 2022-05

Variant appearance in text: UGT1A1: 1091C>T; rs34946978

PubMed Link: 35781232

Variant Present in the following documents:

• Main text
• tap-57-3-295.pdf

View BVdb publication page

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Whole-exome sequencing in a patient with synchronous triple primary malignancies involving lung cancer: a case report.

Precision Clinical Medicine

Li, Dan D; Yu, Min M; Zhou, Ping P; Yang, Jie J; Wang, Yongsheng Y

Publication Date: 2020-12

Variant appearance in text: UGT1A1: 1091C>T

PubMed Link: 35692627

Variant Present in the following documents:

• Main text
• pbaa019.pdf

View BVdb publication page

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Common UGT1A6 Variant Alleles Determine Acetaminophen Pharmacokinetics in Man.

Journal Of Personalized Medicine

Cerezo-Arias, María de Las Olas MLO; Gómez-Tabales, Javier J; Martí, Manuel M; García-Martín, Elena E; Agúndez, José A G JAG

Publication Date: 2022-04-29

Variant appearance in text: UGT1A1: Pro364Leu; rs34946978

PubMed Link: 35629143

Variant Present in the following documents:

• Main text
• jpm-12-00720.pdf

View BVdb publication page

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Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity.

Italian Journal Of Pediatrics

Cozzi, Laura L; Nuti, Federica F; Degrassi, Irene I; Civeriati, Daniela D; Paolella, Giulia G; Nebbia, Gabriella G

Publication Date: 2022-04-18

Variant appearance in text: UGT1A1: Pro364Leu

PubMed Link: 35436954

Variant Present in the following documents:

• Main text
• 13052_2022_Article_1251.pdf

View BVdb publication page

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PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine

Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X

Publication Date: 2022-04

Variant appearance in text: UGT1A1: P364L

PubMed Link: 35415904

Variant Present in the following documents:

• CTM2-12-e808-s003.xlsx, sheet 2

View BVdb publication page

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Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances

Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF

Publication Date: 2022-08-23

Variant appearance in text: UGT1A1: P364L; rs34946978

PubMed Link: 35381074

Variant Present in the following documents:

• advancesADV2021005648-suppl1.pdf

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: UGT1A1: 1091C>T; Pro364Leu; rs34946978

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: UGT1A1: P364L; rs34946978

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Genetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database.

Scientific Reports

Qi, Guangzhao G; Zhang, Jingmin J; Han, Chao C; Zhou, Yubing Y; Li, Duolu D; Ma, Pengfei P

Publication Date: 2021-09-28

Variant appearance in text: UGT1A1: Pro364Leu; rs34946978

PubMed Link: 34584183

Variant Present in the following documents:

• Main text
• 41598_2021_Article_98877.pdf

View BVdb publication page

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UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China.

Bmc Pediatrics

Yang, Hui H; Lin, Fen F; Chen, Zi-Kai ZK; Zhang, Lin L; Xu, Jia-Xin JX; Wu, Yong-Hao YH; Gu, Jing-Ying JY; Ma, Yu-Bin YB; Li, Jian-Dong JD; Yang, Li-Ye LY

Publication Date: 2021-06-01

Variant appearance in text: UGT1A1: Pro364Leu; rs34946978

PubMed Link: 34074250

Variant Present in the following documents:

• Main text
• 12887_2021_Article_2726.pdf

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs34946978

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

View BVdb publication page

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Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report.

Experimental And Therapeutic Medicine

Ye, Naifang N; Zhou, Zhuochao Z; Gong, Huiyun H; Teng, Jialing J; Han, Yue Y; Yang, Chengde C; Ye, Junna J

Publication Date: 2020-11

Variant appearance in text: UGT1A1: P364L

PubMed Link: 32973940

Variant Present in the following documents:

• Main text
• etm-20-05-09219.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: UGT1A6: P363L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: UGT1A5: 1094C>T; Pro365Leu; rs34946978

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports

Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z

Publication Date: 2020-01-15

Variant appearance in text: UGT1A1: 1091C>T; Pro364Leu

PubMed Link: 31942019

Variant Present in the following documents:

• 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Spectrum of UGT1A1 in Korean Patients with Unconjugated Hyperbilirubinemia.

Annals Of Laboratory Medicine

Kim, Jin Ju JJ; Oh, Joowon J; Kim, Yoonjung Y; Lee, Kyung A KA

Publication Date: 2020-05

Variant appearance in text: UGT1A1: 1091C>T; Pro364Leu; rs34946978

PubMed Link: 31858773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combined Effects of UGT1A1 and SLCO1B1 Variants on Chinese Adult Mild Unconjugated Hyperbilirubinemia.

Frontiers In Genetics

Bai, Jie J; Luo, Lei L; Liu, Shuang S; Liang, Chen C; Bai, Li L; Chen, Yu Y; Zheng, Sujun S; Duan, Zhongping Z

Publication Date: 2019

Variant appearance in text: UGT1A1: 1091C>T

PubMed Link: 31737051

Variant Present in the following documents:

• Main text
• fgene-10-01073.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: UGT1A8: 1082C>T; Pro361Leu; rs34946978

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.

Biomed Research International

Mi, Xiao-Xiao XX; Yan, Jian J; Ma, Xiao-Jie XJ; Zhu, Ge-Li GL; Gao, Yi-Dan YD; Yang, Wen-Jun WJ; Kong, Xiao-Wen XW; Chen, Gong-Ying GY; Shi, Jun-Ping JP; Gong, Ling L

Publication Date: 2019

Variant appearance in text: UGT1A1: 1091C>T; Pro364Leu; rs34946978

PubMed Link: 31467903

Variant Present in the following documents:

• Main text
• BMRI2019-6272174.pdf

View BVdb publication page

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Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix.

Diagnostic Pathology

Zhu, Ran R; Wu, Huanwen H; Chen, Bo B; Pang, Junyi J; Huo, Zhen Z

Publication Date: 2019-06-22

Variant appearance in text: UGT1A1: P364L

PubMed Link: 31228945

Variant Present in the following documents:

• Main text
• 13000_2019_Article_837.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: UGT1A1: 1091C>T; Pro364Leu

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics

Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-05-30

Variant appearance in text: UGT1A1: 1091C>T; P364L

PubMed Link: 31146700

Variant Present in the following documents:

• 12881_2019_813_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: UGT1A7: P361L; rs34946978

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.

Medicine

Abuduxikuer, Kuerbanjiang K; Fang, Ling-Juan LJ; Li, Li-Ting LT; Gong, Jing-Yu JY; Wang, Jian-She JS

Publication Date: 2018-12

Variant appearance in text: UGT1A1: 1091C>T; P364L

PubMed Link: 30544479

Variant Present in the following documents:

• Main text
• medi-97-e13576.pdf

View BVdb publication page

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Diagnostic Accuracy of Serum Matrix Metalloproteinase-7 for Biliary Atresia.

Hepatology (Baltimore, Md.)

Yang, Li L; Zhou, Ying Y; Xu, Pei-Pei PP; Mourya, Reena R; Lei, Hai-Yan HY; Cao, Guo-Qing GQ; Xiong, Xiao-Li XL; Xu, Hui H; Duan, Xu-Fei XF; Wang, Na N; Fei, Lin L; Chang, Xiao-Pan XP; Zhang, Xi X; Jiang, Meng M; Bezerra, Jorge A JA; Tang, Shao-Tao ST

Publication Date: 2018-12

Variant appearance in text: UGT1A1: P364L

PubMed Link: 30153340

Variant Present in the following documents:

• HEP-68-2069-s001.pdf

View BVdb publication page

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UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population.

Biomed Research International

Wisnumurti, Dewi A DA; Sribudiani, Yunia Y; Porsch, Robert M RM; Maskoen, Ani M AM; Abdulhamied, Lola I LI; Rahayuningsih, Sri E SE; Asni, Eni K EK; Sleutels, Frank F; Kockx, Christel E M CEM; van Ijcken, Wilfred F J WFJ; Sukadi, Abdurachman A; Achmad, Tri H TH

Publication Date: 2018

Variant appearance in text: UGT1A1: 1091C>T; Pro364Leu; rs34946978

PubMed Link: 29607327

Variant Present in the following documents:

• Main text
• BMRI2018-9425843.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs34946978

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II.

Medicine

Sun, Lei L; Li, Man M; Zhang, Liang L; Teng, Xiaoying X; Chen, Xiangmei X; Zhou, Xingang X; Ma, Zhiyuan Z; Qi, Liming L; Wang, Peng P

Publication Date: 2017-11

Variant appearance in text: UGT1A1: P364L

PubMed Link: 29137095

Variant Present in the following documents:

• Main text
• medi-96-e8620.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: UGT1A7: P361L

PubMed Link: 29088863

Variant Present in the following documents:

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

View BVdb publication page

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Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis.

Hepatology (Baltimore, Md.)

Qiu, Yi-Ling YL; Gong, Jing-Yu JY; Feng, Jia-Yan JY; Wang, Ren-Xue RX; Han, Jun J; Liu, Teng T; Lu, Yi Y; Li, Li-Ting LT; Zhang, Mei-Hong MH; Sheps, Jonathan A JA; Wang, Neng-Li NL; Yan, Yan-Yan YY; Li, Jia-Qi JQ; Chen, Lian L; Borchers, Christoph H CH; Sipos, Bence B; Knisely, A S AS; Ling, Victor V; Xing, Qing-He QH; Wang, Jian-She JS

Publication Date: 2017-05

Variant appearance in text: UGT1A1: 1091C>T; P364L; rs34946978

PubMed Link: 28027573

Variant Present in the following documents:

• HEP-65-1655-s001.pdf

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs34946978

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2
• fpc-27-089-s006.xlsx, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: UGT1A6: P363L

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.

Plos One

Lu, You-Wang YW; Zhang, Hui-Feng HF; Liang, Rui R; Xie, Zhen-Rong ZR; Luo, Hua-You HY; Zeng, Yu-Jian YJ; Xu, Yu Y; Wang, La-Mei LM; Kong, Xiang-Yang XY; Wang, Kun-Hua KH

Publication Date: 2016

Variant appearance in text: UGT1A9: P361L

PubMed Link: 27023146

Variant Present in the following documents:

• pone.0152673.s002.xlsx, sheet 8
• pone.0152673.s002.xlsx, sheet 10
• pone.0152673.s002.xlsx, sheet 9
• pone.0152673.s002.xlsx, sheet 6
• pone.0152673.s002.xlsx, sheet 7

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Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.

Plos One

Li, Lufeng L; Deng, Guohong G; Tang, Yi Y; Mao, Qing Q

Publication Date: 2015

Variant appearance in text: UGT1A1: 1091C>T; P364L; rs34946978

PubMed Link: 25993113

Variant Present in the following documents:

• Main text
• pone.0126263.pdf

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Multiple variants in UGT1A1 gene are factors to develop indirect hyper-bilirubinemia.

Hepatobiliary Surgery And Nutrition

Hu, Rei-Ting RT; Wang, Nai-Yuan NY; Huang, May-Jen MJ; Huang, Ching-Shan CS; Chen, Ding-Shinn DS; Yang, Sien-Sing SS

Publication Date: 2014-08

Variant appearance in text: UGT1A1: P364L

PubMed Link: 25202696

Variant Present in the following documents:

• Main text

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Bilirubin uridine diphosphate-glucuronosyltransferase variation is a genetic basis of breast milk jaundice.

The Journal Of Pediatrics

Maruo, Yoshihiro Y; Morioka, Yoriko Y; Fujito, Hiroshi H; Nakahara, Sayuri S; Yanagi, Takahide T; Matsui, Katsuyuki K; Mori, Asami A; Sato, Hiroshi H; Tukey, Robert H RH; Takeuchi, Yoshihiro Y

Publication Date: 2014-07

Variant appearance in text: UGT1A1: P364L

PubMed Link: 24650397

Variant Present in the following documents:

• Main text

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Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Genetics Research International

Rahim, Fakher F; Galehdari, Hamid H; Mohammadi-Asl, Javad J; Saki, Najmaldin N

Publication Date: 2013

Variant appearance in text: rs34946978

PubMed Link: 23997956

Variant Present in the following documents:

• Main text

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Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

International Journal Of Molecular Epidemiology And Genetics

Galehdari, Hamid H; Saki, Najmaldin N; Mohammadi-Asl, Javad J; Rahim, Fakher F

Publication Date: 2013

Variant appearance in text: UGT1A1: P364L; rs34946978

PubMed Link: 23875061

Variant Present in the following documents:

• Main text

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Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han.

Genetics And Molecular Biology

Zhang, Xiaoqing X; Ao, Guokun G; Wang, Yuewen Y; Yan, Wei W; Wang, Min M; Chen, Erfei E; Yang, Fangfang F; Yang, Jin J

Publication Date: 2012-04

Variant appearance in text: UGT1A1: Pro364Leu; rs34946978

PubMed Link: 22888291

Variant Present in the following documents:

• Main text
• gmb-35-2-428.pdf

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