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Publications

12 records shown · first 60

Impact of ABCB1 Gene (C3435T/A2677G) Polymorphic Sequence Variations on the Outcome of Patients with Chronic Myeloid Leukemia and Acute Lymphoblastic Leukemia in Kashmiri Population: A Case-Control Study.

PMID 33707832 | PMCID PMC7900282 | DOI 10.1007/s12288-020-01289-6 · Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2021 · 4 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“Keeping in view inter-individual sensitivities for such drugs, we through this case-control study tested whether ABCB1 C3435T and G2677T polymorphisms have any influence on the risk and treatment response in patients with chronic myeloid leukemia (CML) and B-acute lymphoblastic leukemia (B-ALL).”0.82literature_variant_regex_v2
geneABCB1“Impact of ABCB1 Gene (C3435T/A2677G) Polymorphic Sequence Variations on the Outcome of Patients with Chronic Myeloid Leukemia and Acute Lymphoblastic Leukemia in Kashmiri Population: A Case-Control Study.”0.98hgnc_dict_v1
phenotypeleukemia“Impact of ABCB1 Gene (C3435T/A2677G) Polymorphic Sequence Variations on the Outcome of Patients with Chronic Myeloid Leukemia and Acute Lymphoblastic Leukemia in Kashmiri Population: A Case-Control Study.”0.98phenotype_alias_lexicon_v2
variantG2677T“Keeping in view inter-individual sensitivities for such drugs, we through this case-control study tested whether ABCB1 C3435T and G2677T polymorphisms have any influence on the risk and treatment response in patients with chronic myeloid leukemia (CML) and B-acute lymphoblastic leukemia (B-ALL).”0.82literature_variant_regex_v2

Association between ABCB1, ABCG2 carrier protein and COX-2 enzyme gene polymorphisms and breast cancer risk in a Turkish population.

PMID 32042261 | PMCID PMC7000306 | DOI 10.1016/j.jsps.2019.11.024 · Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2020 · 9 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“Comparing the pathological parameters with the variants, only, the frequency of C allele of ABCB1 C3435T was significantly lower in the estrogen receptor-α (ERα) (OR = 2.25; 95% CI: 0.75-6.76; p = 0.041) and progesterone receptor (PgR) (OR = 3.67; 95% CI: 1.34-10.03; p = 0.008) positive breast cancer patients.”0.82literature_variant_regex_v2
geneABCB1“Association between ABCB1, ABCG2 carrier protein and COX-2 enzyme gene polymorphisms and breast cancer risk in a Turkish population.”0.98hgnc_dict_v1
geneABCG2“Association between ABCB1, ABCG2 carrier protein and COX-2 enzyme gene polymorphisms and breast cancer risk in a Turkish population.”0.98hgnc_dict_v1
phenotypebreast cancer“Association between ABCB1, ABCG2 carrier protein and COX-2 enzyme gene polymorphisms and breast cancer risk in a Turkish population.”0.98phenotype_alias_lexicon_v2

Combinations of common SNPs of the transporter gene ABCB1 influence apparent bioavailability, but not renal elimination of oral digoxin.

PMID 32719417 | PMCID PMC7385621 | DOI 10.1038/s41598-020-69326-y · Scientific reports · 2020 · 4 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“Current studies on the individual effects of three commonly investigated single nucleotide polymorphisms (SNPs) of the ABCB1 gene encoding P-gp (C1236T, G2677T/A, and C3435T) on digoxin pharmacokinetics are inconclusive.”0.82literature_variant_regex_v2
geneABCB1“Combinations of common SNPs of the transporter gene ABCB1 influence apparent bioavailability, but not renal elimination of oral digoxin.”0.98hgnc_dict_v1
variantC1236T“Current studies on the individual effects of three commonly investigated single nucleotide polymorphisms (SNPs) of the ABCB1 gene encoding P-gp (C1236T, G2677T/A, and C3435T) on digoxin pharmacokinetics are inconclusive.”0.82literature_variant_regex_v2
variantG2677T“Current studies on the individual effects of three commonly investigated single nucleotide polymorphisms (SNPs) of the ABCB1 gene encoding P-gp (C1236T, G2677T/A, and C3435T) on digoxin pharmacokinetics are inconclusive.”0.82literature_variant_regex_v2
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“The stage III resistant cases revealed heterozygous mutation (C/T) in exon 12 (C1236T) and 26 (C3435T) and increased level of mRNA, whereas homozygous mutation (T/T) was found at stage IV tumor patients.”0.82literature_variant_regex_v2
phenotypeovarian cancer“MDR1 Gene Polymorphisms and Its Association With Expression as a Clinical Relevance in Terms of Response to Chemotherapy and Prognosis in Ovarian Cancer.”0.98phenotype_alias_lexicon_v2
variantC1236T“The stage III resistant cases revealed heterozygous mutation (C/T) in exon 12 (C1236T) and 26 (C3435T) and increased level of mRNA, whereas homozygous mutation (T/T) was found at stage IV tumor patients.”0.82literature_variant_regex_v2
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“METHODS: Three single nucleotide polymorphisms (SNPs) of the ABCB1 gene (rs 3213619 T129C, rs 2032582 G2677T and rs1045642 C3435T) were analysed in 70 Saudi children with ALL and 60 control subjects.”0.82literature_variant_regex_v2
geneABCB1“The influence of polymorphisms in the drug transporter, ABCB1 on the toxicity of glucocorticoids in Saudi children with acute lymphoblastic leukaemia.”0.98hgnc_dict_v1
phenotypeleukemia“The influence of polymorphisms in the drug transporter, ABCB1 on the toxicity of glucocorticoids in Saudi children with acute lymphoblastic leukaemia.”0.93phenotype_alias_lexicon_v2
populationSaudi Arabia“The influence of polymorphisms in the drug transporter, ABCB1 on the toxicity of glucocorticoids in Saudi children with acute lymphoblastic leukaemia. This study, the first of its kind in a Saudi population, investigates associations of ABCB1 gene polymorphisms (pharmacodynamics and pharmacokinetic) with the development of toxicity and side effects (glucose abnormality, liver toxicity and infection) in a small population of Saudi children with ALL. METHODS: Three single nucleotide polymorphisms (SNPs) of the ABCB1 gene (rs 3213619 T129C, rs 2032582 G2677T and rs1045642 C3435T) were analysed in 70 Saudi children with ALL and 60 control subjects.”0.95saudi_context_rules_v1

ABCB1 variants C3435T and T129C are not associated with colorectal cancer risk.

PMID 32127820 | PMCID PMC7040265 | DOI 10.4314/ahs.v19i3.23 · African health sciences · 2019 · 7 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“ABCB1 variants C3435T and T129C are not associated with colorectal cancer risk.”0.82literature_variant_regex_v2
geneABCB1“ABCB1 variants C3435T and T129C are not associated with colorectal cancer risk.”0.98hgnc_dict_v1
phenotypecolorectal cancer“ABCB1 variants C3435T and T129C are not associated with colorectal cancer risk.”0.98phenotype_alias_lexicon_v2
populationSaudi Arabia“BACKGROUND: Colorectal cancer (CRC) is one of the most prevalent cancers in Saudi Arabia that is highly characterized with poor survival rate and advanced metastasis. METHODS: 125 subjects (62 CRC patients and 63 healthy controls) were involved.”0.95saudi_context_rules_v1

P-glycoprotein polymorphism and levothyroxine bioavailability in hypothyroid patients.

PMID 30166928 | PMCID PMC6111188 | DOI 10.1016/j.jsps.2017.11.012 · Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2018 · 4 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“RESULTS: In the genotype analysis, the minor allele frequencies were 0.48 for C1236T, 0.51 for G2677T/A, and 0.51 for C3435T.”0.82literature_variant_regex_v2
geneABCB1“Indeed, there is a need to evaluate the association between SNPs of P-gp encoded multidrug resistance genes (MDR1, ABCB1), and the dosage requirements of these drugs.”0.98hgnc_dict_v1
variantC1236T“RESULTS: In the genotype analysis, the minor allele frequencies were 0.48 for C1236T, 0.51 for G2677T/A, and 0.51 for C3435T.”0.82literature_variant_regex_v2
variantG2677T“RESULTS: In the genotype analysis, the minor allele frequencies were 0.48 for C1236T, 0.51 for G2677T/A, and 0.51 for C3435T.”0.82literature_variant_regex_v2

Quantitation of the impact of CYP3A5 A6986G polymorphism on quetiapine pharmacokinetics by simulation of target attainment.

PMID 27137148 | DOI 10.1002/cpdd.172 · Clinical pharmacology in drug development · 2015 · 4 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“The single nucleotide polymorphisms (SNPs) evaluated for the genotype effects of quetiapine pharmacokinetics were CYP3A5 A6986G and ABCB1 C3435T, along with other demographic variables and formulations.”0.82literature_variant_regex_v2
geneCYP3A5“Quantitation of the impact of CYP3A5 A6986G polymorphism on quetiapine pharmacokinetics by simulation of target attainment.”0.98hgnc_dict_v1
geneABCB1“The aim of this study was to evaluate whether genetic polymorphisms in CYP3A5 and ABCB1 are responsible for the interindividual variability observed in quetiapine pharmacokinetics.”0.98hgnc_dict_v1
variantA6986G“Quantitation of the impact of CYP3A5 A6986G polymorphism on quetiapine pharmacokinetics by simulation of target attainment.”0.82literature_variant_regex_v2

The impact of genetic polymorphisms on time required to attain the target tacrolimus levels and subsequent pharmacodynamic outcomes in pediatric kidney transplant patients.

PMID 24625991 | DOI 10.4103/1319-2442.128501 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2014 · 2 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“In contrast, C3435T polymorphism had no significant influence on the proportion of patients achieving target TAC levels.”0.82literature_variant_regex_v2
geneCYP3A5“Recent pharmacogenetic studies involving various transplant recipients in diverse ethnic populations revealed contradictory findings regarding the impact of CYP3A5 and multidrug resistance-1 (MDR1) single nucleotide polymorphisms (SNPs) on the pharmacodynamics of tacrolmius (TAC).”0.98hgnc_dict_v1

Effect of the C3435T polymorphism of the multidrug resistance 1 gene on the severity of inflammatory bowel disease in Iranian Azeri Turks.

PMID 23828747 | PMCID PMC3745659 | DOI 10.4103/1319-3767.114515 · Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association · 2013 · 2 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“Effect of the C3435T polymorphism of the multidrug resistance 1 gene on the severity of inflammatory bowel disease in Iranian Azeri Turks.”0.82literature_variant_regex_v2
phenotypeinflammatory bowel disease“Effect of the C3435T polymorphism of the multidrug resistance 1 gene on the severity of inflammatory bowel disease in Iranian Azeri Turks.”0.98phenotype_alias_lexicon_v2

Genetic variability and haplotype profile of MDR1 in Saudi Arabian males.

PMID 23053935 | DOI 10.1007/s11033-012-1906-3 · Molecular biology reports · 2012 · 4 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“In this study, we determined the frequencies of the most common three polymorphisms in the MDR1 gene (i.e., C1236T, G2677T, and C3435T) in Saudi Arabians and their haplotypes.”0.82literature_variant_regex_v2
populationSaudi Arabia“Genetic variability and haplotype profile of MDR1 in Saudi Arabian males. In this study, we determined the frequencies of the most common three polymorphisms in the MDR1 gene (i.e., C1236T, G2677T, and C3435T) in Saudi Arabians and their haplotypes. These identified frequencies in Saudi Arabians are different from that reported in the other ethnic groups.”0.95saudi_context_rules_v1
variantC1236T“In this study, we determined the frequencies of the most common three polymorphisms in the MDR1 gene (i.e., C1236T, G2677T, and C3435T) in Saudi Arabians and their haplotypes.”0.82literature_variant_regex_v2
variantG2677T“In this study, we determined the frequencies of the most common three polymorphisms in the MDR1 gene (i.e., C1236T, G2677T, and C3435T) in Saudi Arabians and their haplotypes.”0.82literature_variant_regex_v2

MDR1 pharmacogenetics: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity.

PMID 11337937 | DOI 10.1097/00008571-200104000-00005 · Pharmacogenetics · 2001 · 3 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantC3435T“MDR1 pharmacogenetics: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity.”0.82literature_variant_regex_v2
genePGP“P-glycoprotein (PGP), the product of the multidrug resistance gene (MDR1), acts as an energy-dependent efflux pump that exports its substrates out of the cell.”0.98hgnc_dict_v1
populationSaudi Arabia“To facilitate clinical application throughout the world, 1280 subjects from 10 different ethnic groups were evaluated for this SNP using the polymerase chain reaction-restriction fragment length polymorphism assay and the genotype and allele frequency for each group were ascertained. The British Caucasian, Portuguese, South-west Asian, Chinese, Filipino and Saudi populations had lower frequencies of the C allele compared to the African group (48%, 43%, 34%, 53%, 59%, and 55%, respectively).”0.95saudi_context_rules_v1