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3 records shown · first 60

Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma.

PMID 36937130 | PMCID PMC10022703 | DOI 10.7759/cureus.36293 · Cureus · 2023 · 6 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantrs17587“TaqMan Real-Time PCR was used to determine genotype distributions and allele frequencies for the PSMB9 rs17587 G>A and PSMB8 rs2071543 G>T SNPs.”0.90hgvs_regex_v1
genePSMB8“Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma.”0.98hgnc_dict_v1
genePSMB9“Sequence Variants in PSMB8/PSMB9 Immunoproteasome Genes and Risk of Urothelial Bladder Carcinoma.”0.98hgnc_dict_v1
geneUBC“Because recent evidence has demonstrated an immunological role for proteasomes in various malignancies, including urothelial bladder carcinoma (UBC), we evaluated single nucleotide polymorphisms (SNPs) in PSMB9 and PSMB8.”0.98hgnc_dict_v1

Variations in TAP1 and PSMB9 Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community.

PMID 34984025 | PMCID PMC8702990 | DOI 10.2147/IJGM.S341079 · International journal of general medicine · 2021 · 6 validated mentions
TypeEntitySource evidenceConfidenceExtractor
variantrs17587“METHODS: Samples of genomic DNA from buccal cells of 172 patients with vitiligo and 129 healthy controls were analyzed using TaqMan™ genotyping assays for the TAP1 rs1135216 (A>G) and PSMB9 rs17587 (A>G) single nucleotide polymorphisms (SNPs).”0.90hgvs_regex_v1
geneTAP1“Variations in TAP1 and PSMB9 Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community.”0.98hgnc_dict_v1
genePSMB9“Variations in TAP1 and PSMB9 Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community.”0.98hgnc_dict_v1
populationSaudi Arabia“Variations in TAP1 and PSMB9 Genes Involved in Antigen Processing and Presentation Increase the Risk of Vitiligo in the Saudi Community. METHODS: Samples of genomic DNA from buccal cells of 172 patients with vitiligo and 129 healthy controls were analyzed using TaqMan™ genotyping assays for the TAP1 rs1135216 (A>G) and PSMB9 rs17587 (A>G) single nucleotide polymorphisms (SNPs). CONCLUSION: Our findings suggest a crucial role for TAP1 rs1135216 and PSMB9 rs17587 in the risk and progression of vitiligo in the Saudi community.”0.95saudi_context_rules_v1
TypeEntitySource evidenceConfidenceExtractor
variantrs17587“We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients.”0.90hgvs_regex_v1
populationSaudi Arabia“Transporter TAP1-637G and immunoproteasome PSMB9-60H variants influence the risk of developing vitiligo in the Saudi population. We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients.”0.95saudi_context_rules_v1
variantrs1135216“We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients.”0.90hgvs_regex_v1