UGT1A6 c.552A>C ;(p.R184S)

Variant ID: 2-234602202-A-C

NM_001072.3(UGT1A6):c.552A>C;(p.R184S)

This variant was identified in 106 publications

View GRCh38 version.




Publications:


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: UGT1A6: R184S; rs1105879
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites
Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF
Publication Date: 2023-01-16

Variant appearance in text: rs1105879
PubMed Link: 36677060
Variant Present in the following documents:
  • Main text
  • metabolites-13-00134.pdf
View BVdb publication page



Mono- and biallelic variant effects on disease at biobank scale.

Nature
Heyne, H O HO; Karjalainen, J J; Karczewski, K J KJ; Lemmelä, S M SM; Zhou, W W; , ; Havulinna, A S AS; Kurki, M M; Rehm, H L HL; Palotie, A A; Daly, M J MJ
Publication Date: 2023-01

Variant appearance in text: rs1105879
PubMed Link: 36653560
Variant Present in the following documents:
  • 41586_2022_5420_MOESM1_ESM.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: UGT1A6: R184S; rs1105879
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Chemotherapy-related hyperbilirubinemia in pediatric acute lymphoblastic leukemia: a genome-wide association study from the AIEOP-BFM ALL study group.

Journal Of Experimental & Clinical Cancer Research : Cr
Junk, Stefanie V SV; Schaeffeler, Elke E; Zimmermann, Martin M; Möricke, Anja A; Beier, Rita R; Schütte, Peter P; Fedders, Birthe B; Alten, Julia J; Hinze, Laura L; Klein, Norman N; Kulozik, Andreas A; Muckenthaler, Martina U MU; Koehler, Rolf R; Borkhardt, Arndt A; Vijayakrishnan, Jayaram J; Ellinghaus, David D; Forster, Michael M; Franke, Andre A; Wintering, Astrid A; Kratz, Christian P CP; Schrappe, Martin M; Schwab, Matthias M; Houlston, Richard S RS; Cario, Gunnar G; Stanulla, Martin M
Publication Date: 2023-01-13

Variant appearance in text: UGT1A6: R184S; rs1105879
PubMed Link: 36639636
Variant Present in the following documents:
  • 13046_2022_2585_MOESM1_ESM.pdf
View BVdb publication page



The Mutation Hotspots at UGT1A Locus May Be Associated with Gilbert's Syndrome Affecting the Taiwanese Population.

International Journal Of Molecular Sciences
Hsu, Paul Wei-Che PW; Liao, Po-Cheng PC; Kao, Yu-Hsiang YH; Lin, Xin-Yu XY; Chien, Rong-Nan RN; Yeh, Chau-Ting CT; Lai, Chi-Chun CC; Shyu, Yu-Chiau YC; Lin, Chih-Lang CL
Publication Date: 2022-10-21

Variant appearance in text: rs1105879
PubMed Link: 36293566
Variant Present in the following documents:
  • ijms-23-12709.pdf
View BVdb publication page



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: UGT1A6: R184S
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



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: UGT1A6: R184S
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



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: UGT1A6: R184S; rs1105879
PubMed Link: 35629143
Variant Present in the following documents:
  • Main text
  • jpm-12-00720.pdf
View BVdb publication page



Germline variants in cancer therapy.

Cancer Drug Resistance (Alhambra, Calif.)
Kaehler, Meike M; Cascorbi, Ingolf I
Publication Date: 2019

Variant appearance in text: UGT1A6: R184S
PubMed Link: 35582146
Variant Present in the following documents:
  • cdr-2-18.pdf
View BVdb publication page



Effects of genetic polymorphism of drug-metabolizing enzymes on the plasma concentrations of antiepileptic drugs in Chinese population.

Bioengineered
Zhao, Weixuan W; Meng, Hongmei H
Publication Date: 2022-03

Variant appearance in text: UGT1A6: 552A>C; R184S; rs1105879
PubMed Link: 35290166
Variant Present in the following documents:
  • Main text
  • KBIE_13_2036916.pdf
View BVdb publication page



UDP-glucuronosyltransferases mediate coffee-associated reduction of liver fibrosis in bile duct ligated humanized transgenic UGT1A mice.

Hepatobiliary Surgery And Nutrition
Landerer, Steffen S; Kalthoff, Sandra S; Strassburg, Christian P CP
Publication Date: 2021-12

Variant appearance in text: UGT1A6: R184S; rs1105879
PubMed Link: 35004944
Variant Present in the following documents:
  • Main text
View BVdb publication page



Salicylic Acid and Risk of Colorectal Cancer: A Two-Sample Mendelian Randomization Study.

Nutrients
Nounu, Aayah A; Richmond, Rebecca C RC; Stewart, Isobel D ID; Surendran, Praveen P; Wareham, Nicholas J NJ; Butterworth, Adam A; Weinstein, Stephanie J SJ; Albanes, Demetrius D; Baron, John A JA; Hopper, John L JL; Figueiredo, Jane C JC; Newcomb, Polly A PA; Lindor, Noralane M NM; Casey, Graham G; Platz, Elizabeth A EA; Marchand, Loïc Le LL; Ulrich, Cornelia M CM; Li, Christopher I CI; van Dujinhoven, Fränzel J B FJB; Gsur, Andrea A; Campbell, Peter T PT; Moreno, Víctor V; Vodicka, Pavel P; Vodickova, Ludmila L; Amitay, Efrat E; Alwers, Elizabeth E; Chang-Claude, Jenny J; Sakoda, Lori C LC; Slattery, Martha L ML; Schoen, Robert E RE; Gunter, Marc J MJ; Castellví-Bel, Sergi S; Kim, Hyeong-Rok HR; Kweon, Sun-Seog SS; Chan, Andrew T AT; Li, Li L; Zheng, Wei W; Bishop, D Timothy DT; Buchanan, Daniel D DD; Giles, Graham G GG; Gruber, Stephen B SB; Rennert, Gad G; Stadler, Zsofia K ZK; Harrison, Tabitha A TA; Lin, Yi Y; Keku, Temitope O TO; Woods, Michael O MO; Schafmayer, Clemens C; Van Guelpen, Bethany B; Gallinger, Steven S; Hampel, Heather H; Berndt, Sonja I SI; Pharoah, Paul D P PDP; Lindblom, Annika A; Wolk, Alicja A; Wu, Anna H AH; White, Emily E; Peters, Ulrike U; Drew, David A DA; Scherer, Dominique D; Bermejo, Justo Lorenzo JL; Brenner, Hermann H; Hoffmeister, Michael M; Williams, Ann C AC; Relton, Caroline L CL
Publication Date: 2021-11-21

Variant appearance in text: rs1105879
PubMed Link: 34836419
Variant Present in the following documents:
  • Main text
  • nutrients-13-04164.pdf
View BVdb publication page



Associations between Polymorphisms in Phase II Enzymes and Circulating Sex-Steroid Hormones in White Postmenopausal Women.

Journal Of Menopausal Medicine
Arikawa, Andrea Y AY; Samavat, Hamed H; Kurzer, Mindy S MS
Publication Date: 2021-08

Variant appearance in text: rs1105879
PubMed Link: 34463071
Variant Present in the following documents:
  • Main text
  • jmm-27-79.pdf
View BVdb publication page



The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports
Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL
Publication Date: 2021-09

Variant appearance in text: rs1105879
PubMed Link: 34295994
Variant Present in the following documents:
  • Main text
  • HSR2-4-e327.pdf
View BVdb publication page



The Functionality of UDP-Glucuronosyltransferase Genetic Variants and their Association with Drug Responses and Human Diseases.

Journal Of Personalized Medicine
Jarrar, Yazun Y; Lee, Su-Jun SJ
Publication Date: 2021-06-14

Variant appearance in text: UGT1A6: Arg184Ser
PubMed Link: 34198586
Variant Present in the following documents:
  • Main text
  • jpm-11-00554.pdf
View BVdb publication page



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: UGT1A6: 552A>C; rs1105879
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Pharmacogenetics of Carbamazepine and Valproate: Focus on Polymorphisms of Drug Metabolizing Enzymes and Transporters.

Pharmaceuticals (Basel, Switzerland)
Iannaccone, Teresa T; Sellitto, Carmine C; Manzo, Valentina V; Colucci, Francesca F; Giudice, Valentina V; Stefanelli, Berenice B; Iuliano, Antonio A; Corrivetti, Giulio G; Filippelli, Amelia A
Publication Date: 2021-03-01

Variant appearance in text: rs1105879
PubMed Link: 33804537
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00204.pdf
View BVdb publication page



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: UGT1A6: R184S; rs1105879
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



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: UGT1A6: 552A>C; R184S; rs1105879
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences
Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A
Publication Date: 2021-01

Variant appearance in text: UGT1A6: R184S; rs1105879
PubMed Link: 33424349
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Promising genes and variants to reduce chemotherapy adverse effects in acute lymphoblastic leukemia.

Translational Oncology
Bárcenas-López, Diego Alberto DA; Mendiola-Soto, Diana Karen DK; Núñez-Enríquez, Juan Carlos JC; Mejía-Aranguré, Juan Manuel JM; Hidalgo-Miranda, Alfredo A; Jiménez-Morales, Silvia S
Publication Date: 2021-01

Variant appearance in text: UGT1A6: R184S
PubMed Link: 33290991
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Clinical Relevance of Pharmacogenetics in Serotonin Syndrome.

Case Reports In Psychiatry
Pandya, Dehuti D; Tran, My M; Verduzco-Gutierrez, Monica M
Publication Date: 2020

Variant appearance in text: UGT1A6: R184S
PubMed Link: 33101751
Variant Present in the following documents:
  • CRIPS2020-8860434.pdf
View BVdb publication page



The coffee ingredients caffeic acid and caffeic acid phenylethyl ester protect against irinotecan-induced leukopenia and oxidative stress response.

British Journal Of Pharmacology
Kalthoff, Sandra S; Paulusch, Stefan S; Rupp, Alexander A; Holdenrieder, Stefan S; Hartmann, Gunther G; Strassburg, Christian P CP
Publication Date: 2020-09

Variant appearance in text: UGT1A6: R184S
PubMed Link: 32548889
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: UGT1A6: R184S; rs1105879
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



A Scoping Review of Interactions between Omega-3 Long-Chain Polyunsaturated Fatty Acids and Genetic Variation in Relation to Cancer Risk.

Nutrients
Yurko-Mauro, Karin K; Van Elswyk, Mary M; Teo, Lynn L
Publication Date: 2020-06-02

Variant appearance in text: UGT1A6: Arg184Ser
PubMed Link: 32498320
Variant Present in the following documents:
  • nutrients-12-01647.pdf
View BVdb publication page



Human variability in isoform-specific UDP-glucuronosyltransferases: markers of acute and chronic exposure, polymorphisms and uncertainty factors.

Archives Of Toxicology
Kasteel, E E J EEJ; Darney, K K; Kramer, N I NI; Dorne, J L C M JLCM; Lautz, L S LS
Publication Date: 2020-08

Variant appearance in text: UGT1A6: R184S
PubMed Link: 32415340
Variant Present in the following documents:
  • Main text
View BVdb publication page



Homology Modeling of Human Uridine-5'-diphosphate-glucuronosyltransferase 1A6 Reveals Insights into Factors Influencing Substrate and Cosubstrate Binding.

Acs Omega
Smith, Alexander D AD; Page, Brent D G BDG; Collier, Abby C AC; Coughtrie, Michael W H MWH
Publication Date: 2020-03-31

Variant appearance in text: UGT1A6: R184S
PubMed Link: 32258923
Variant Present in the following documents:
  • Main text
  • ao0c00205.pdf
  • ao0c00205_si_003.pdf
View BVdb publication page



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: UGT1A6: R184S
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J
Publication Date: 2020-08

Variant appearance in text: rs1105879
PubMed Link: 31818908
Variant Present in the following documents:
  • gutjnl-2019-319313supp002.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: UGT1A6: 552A>C; Arg184Ser; rs1105879
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: UGT1A6: R184S; rs1105879
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Age-Dependent Levels of Protein Kinase Cs in Brain: Reduction of Endogenous Mechanisms of Neuroprotection.

International Journal Of Molecular Sciences
Pastore, Donatella D; Pacifici, Francesca F; Dave, Kunjan R KR; Palmirotta, Raffaele R; Bellia, Alfonso A; Pasquantonio, Guido G; Guadagni, Fiorella F; Donadel, Giulia G; Di Daniele, Nicola N; Abete, Pasquale P; Lauro, Davide D; Rundek, Tatjana T; Perez-Pinzon, Miguel A MA; Della-Morte, David D
Publication Date: 2019-07-19

Variant appearance in text: UGT1A6: 552A>C; Arg184Ser; rs1105879
PubMed Link: 31331067
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics
Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI
Publication Date: 2019-06-03

Variant appearance in text: UGT1A6: R184S; rs1105879
PubMed Link: 31159795
Variant Present in the following documents:
  • 12920_2019_527_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Bioinformatic Analysis of Gene Variants from Gastroschisis Recurrence Identifies Multiple Novel Pathogenetic Pathways: Implication for the Closure of the Ventral Body Wall.

International Journal Of Molecular Sciences
Salinas-Torres, Víctor M VM; Gallardo-Blanco, Hugo L HL; Salinas-Torres, Rafael A RA; Cerda-Flores, Ricardo M RM; Lugo-Trampe, José J JJ; Villarreal-Martínez, Daniel Z DZ; Martínez de Villarreal, Laura E LE
Publication Date: 2019-05-09

Variant appearance in text: rs1105879
PubMed Link: 31075877
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recent Developments in Metal-Based Drugs and Chelating Agents for Neurodegenerative Diseases Treatments.

International Journal Of Molecular Sciences
Sales, Thais A TA; Prandi, Ingrid G IG; Castro, Alexandre A de AA; Leal, Daniel H S DHS; Cunha, Elaine F F da EFFD; Kuca, Kamil K; Ramalho, Teodorico C TC
Publication Date: 2019-04-12

Variant appearance in text: N/A
PubMed Link: 31013856
Variant Present in the following documents:
View BVdb publication page



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: UGT1A6: R184S; rs1105879
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs1105879
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



PAIRUP-MS: Pathway analysis and imputation to relate unknowns in profiles from mass spectrometry-based metabolite data.

Plos Computational Biology
Hsu, Yu-Han H YH; Churchhouse, Claire C; Pers, Tune H TH; Mercader, Josep M JM; Metspalu, Andres A; Fischer, Krista K; Fortney, Kristen K; Morgen, Eric K EK; Gonzalez, Clicerio C; Gonzalez, Maria E ME; Esko, Tonu T; Hirschhorn, Joel N JN
Publication Date: 2019-01

Variant appearance in text: UGT1A6: R184S; rs1105879
PubMed Link: 30640898
Variant Present in the following documents:
  • Main text
  • pcbi.1006734.pdf
View BVdb publication page



Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population.

Nutrients
Coltell, Oscar O; Asensio, Eva M EM; Sorlí, José V JV; Barragán, Rocio R; Fernández-Carrión, Rebeca R; Portolés, Olga O; Ortega-Azorín, Carolina C; Martínez-LaCruz, Raul R; González, José I JI; Zanón-Moreno, Vicente V; Gimenez-Alba, Ignacio I; Fitó, Montserrat M; Ros, Emilio E; Ordovas, Jose M JM; Corella, Dolores D
Publication Date: 2019-01-04

Variant appearance in text: rs1105879
PubMed Link: 30621171
Variant Present in the following documents:
  • Main text
  • nutrients-11-00090.pdf
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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: UGT1A6: R184S; rs1105879
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
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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: rs1105879
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
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GSTP1 rs1695 is associated with both hematological toxicity and prognosis of ovarian cancer treated with paclitaxel plus carboplatin combination chemotherapy: a comprehensive analysis using targeted resequencing of 100 pharmacogenes.

Oncotarget
Yoshihama, Tomoko T; Fukunaga, Koya K; Hirasawa, Akira A; Nomura, Hiroyuki H; Akahane, Tomoko T; Kataoka, Fumio F; Yamagami, Wataru W; Aoki, Daisuke D; Mushiroda, Taisei T
Publication Date: 2018-07-03

Variant appearance in text: rs1105879
PubMed Link: 30038720
Variant Present in the following documents:
  • Main text
  • oncotarget-09-29789.pdf
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Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations.

Plos One
Sheth, Harsh H; Northwood, Emma E; Ulrich, Cornelia M CM; Scherer, Dominique D; Elliott, Faye F; Barrett, Jennifer H JH; Forman, David D; Wolf, C Roland CR; Smith, Gillian G; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Haile, Robert R; Casey, Graham G; Jenkins, Mark M; Win, Aung Ko AK; Hopper, John L JL; Marchand, Loic Le LL; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Potter, John D JD; Burn, John J; Bishop, D Timothy DT
Publication Date: 2018

Variant appearance in text: UGT1A6: R184S; rs1105879
PubMed Link: 29425227
Variant Present in the following documents:
  • Main text
  • pone.0192223.pdf
View BVdb publication page