Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A7
Variant:p.N129K
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UGT1A7

NM_019077.3:p.N129K

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

A Common UDP-Glucuronosyltransferase (UGT)1A Haplotype Is Associated With Accelerated Aging in Humanized Transgenic Mice.

Langhans B et al.

Oxidative Medicine and Cellular Longevity, 2025

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Effects of common genetic variants of human uridine diphosphate glucuronosyltransferase subfamilies on irinotecan glucuronidation.

Tagawa K et al.

Toxicology Mechanisms and Methods, 2023

The UGT1A9*22 genotype identifies a high-risk group for irinotecan toxicity among gastric cancer patients.

Lee CK et al.

Genomics & Informatics, 2022

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

UDP-glucuronosyltransferase polymorphisms affect diethylnitrosamine-induced carcinogenesis in humanized transgenic mice.

Landerer S et al.

Cancer Science, 2020

UGT1A3 and Sex Are Major Determinants of Telmisartan Pharmacokinetics-A Comprehensive Pharmacogenomic Study.

Hirvensalo P et al.

Clinical Pharmacology and Therapeutics, 2020

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Genetic variants of UDP-glucuronosyltransferase 1A genes are associated with disease presentation and outcome in primary sclerosing cholangitis.

Weismüller TJ et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

Pharmacogenomics and Pharmacogenetics: In Silico Prediction of Drug Effects in Treatments for Novel Coronavirus SARS-CoV2 Disease.

Cafiero C et al.

Pharmacogenomics and Personalized Medicine, 2020

Host genetic profiling to increase drug safety in colorectal cancer from discovery to implementation.

Cecchin E et al.

Drug Resistance Updates : Reviews and Commentaries in Antimicrobial and Anticancer Chemotherapy, 2018

Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma.

Yamamoto Y et al.

Oncotarget, 2018

Rapid and sensitive detection of UGT1A1 polymorphisms associated with irinotecan toxicity by a novel DNA microarray.

Tsunedomi R et al.

Cancer Science, 2017

Examination of multiple UGT1A and DPYD polymorphisms has limited ability to predict the toxicity and efficacy of metastatic colorectal cancer treated with irinotecan-based chemotherapy: a retrospective analysis.

Liu D et al.

Bmc Cancer, 2017

Unusual gastrointestinal and cutaneous toxicities by bleomycin, etoposide, and cisplatin: a case report with pharmacogenetic analysis to personalize treatment.

Del Re M et al.

The Epma Journal, 2017

UGT1A1*6, UGT1A7*3 and UGT1A9*1b polymorphisms are predictive markers for severe toxicity in patients with metastatic gastrointestinal cancer treated with irinotecan-based regimens.

Cui C et al.

Oncology Letters, 2016

Genetic polymorphisms of human UDP-glucuronosyltransferase (UGT) genes and cancer risk.

Hu DG et al.

Drug Metabolism Reviews, 2016

Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver.

Liu W et al.

Human Molecular Genetics, 2014

Population pharmacogenetic pharmacokinetic modeling for flip-flop phenomenon of enteric-coated mycophenolate sodium in kidney transplant recipients.

Han N et al.

European Journal of Clinical Pharmacology, 2014

Differences in UGT1A1, UGT1A7, and UGT1A9 polymorphisms between Uzbek and Japanese populations.

Maeda H et al.

Molecular Diagnosis & Therapy, 2014

Alteration of the function of the UDP-glucuronosyltransferase 1A subfamily by cytochrome P450 3A4: different susceptibility for UGT isoforms and UGT1A1/7 variants.

Ishii Y et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2014

Polymorphisms of uridine glucuronosyltransferase gene and irinotecan toxicity: low dose does not protect from toxicity.

Tziotou M et al.

Ecancermedicalscience, 2014

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P8H

Differences in frequencies of UGT1A9, 1A7, and 1A1 genetic polymorphisms in Chinese Tibetan versus Han Chinese populations.

Yan W et al.

Genetics and Molecular Research : Gmr, 2013

UGT1A1*6, 1A7*3, and 1A9*22 genotypes predict severe neutropenia in FOLFIRI-treated metastatic colorectal cancer in two prospective studies in Japan.

Hazama S et al.

Cancer Science, 2013

S-1 plus irinotecan and oxaliplatin for the first-line treatment of patients with metastatic colorectal cancer: a prospective phase II study and pharmacogenetic analysis.

Kim SY et al.

British Journal of Cancer, 2013

The effect of genetic polymorphisms in UGT2B15 on the pharmacokinetic profile of sipoglitazar, a novel anti-diabetic agent.

Stringer F et al.

European Journal of Clinical Pharmacology, 2013

Polymorphisms of the UDP-glucuronosyl transferase 1A genes are associated with adverse events in cancer patients receiving irinotecan-based chemotherapy.

Inoue K et al.

The Tohoku Journal of Experimental Medicine, 2013

Pharmacogenetic study of deferasirox, an iron chelating agent.

Lee JW et al.

Plos One, 2013

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR et al.

Genome Medicine, 2013

Is there diversity among UGT1A1 polymorphism in Japan?

Kobayashi M et al.

World Journal of Gastrointestinal Oncology, 2012

Gilbert syndrome redefined: a complex genetic haplotype influences the regulation of glucuronidation.

Ehmer U et al.

Hepatology (baltimore, Md.), 2012

High enzyme activity UGT1A1 or low activity UGT1A8 and UGT2B4 genotypes increase esophageal cancer risk.

Dura P et al.

International Journal of Oncology, 2012

Genetic variants in carcinogen-metabolizing enzymes, cigarette smoking and pancreatic cancer risk.

Jang JH et al.

Carcinogenesis, 2012

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

Zhang X et al.

Genetics and Molecular Biology, 2012

Polymorphisms in heterocyclic aromatic amines metabolism-related genes are associated with colorectal adenoma risk.

Eichholzer M et al.

International Journal of Molecular Epidemiology and Genetics, 2012

Association between polymorphisms in UDP-glucuronosyltransferase 1A6 and 1A7 and colorectal cancer risk.

Osawa K et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2012

Impact of UDP-gluconoryltransferase 2B17 genotype on vorinostat metabolism and clinical outcomes in Asian women with breast cancer.

Wong NS et al.

Pharmacogenetics and Genomics, 2011

Interactions among genetic variants in tobacco metabolizing genes and smoking are associated with head and neck cancer susceptibility in North Indians.

Sharma R et al.

Dna and Cell Biology, 2011

Ethnic differences in the metabolism, toxicology and efficacy of three anticancer drugs.

Sai K et al.

Expert Opinion on Drug Metabolism & Toxicology, 2011

Evaluation of the association studies of single nucleotide polymorphisms and hepatocellular carcinoma: a systematic review.

Jin F et al.

Journal of Cancer Research and Clinical Oncology, 2011

Part 3: Pharmacogenetic variability in phase II anticancer drug metabolism.

Deenen MJ et al.

The Oncologist, 2011

Polymorphisms in CYP2A13 and UGT1A7 genes and head and neck cancer susceptibility in North Indians.

Sharma R et al.

Oral Diseases, 2010

Pharmacogenetic impact of UDP-glucuronosyltransferase metabolic pathway and multidrug resistance-associated protein 2 transport pathway on mycophenolic acid in thoracic transplant recipients: an exploratory study.

Ting LS et al.

Pharmacotherapy, 2010

Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).

Strassburg CP

Best Practice & Research. Clinical Gastroenterology, 2010

UGT1A and TYMS genetic variants predict toxicity and response of colorectal cancer patients treated with first-line irinotecan and fluorouracil combination therapy.

Martinez-Balibrea E et al.

British Journal of Cancer, 2010

Genetic polymorphism in metabolism and host defense enzymes: implications for human health risk assessment.

Ginsberg G et al.

Critical Reviews in Toxicology, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."