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Page 1
Nephronophthisis-Related Ciliopathies.
Stokman M, Lilien M, Knoers N. Stokman M, et al. 2016 Jun 23 [updated 2023 Mar 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Jun 23 [updated 2023 Mar 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 27336129 Free Books & Documents. Review.
Genetic variations in the CTLA-4 immune checkpoint pathway are associated with colon cancer risk, prognosis, and immune infiltration via regulation of IQCB1 expression.
Ben S, Zhu Q, Chen S, Li S, Du M, Xin J, Chu H, Zhang Z, Wang M. Ben S, et al. Arch Toxicol. 2021 Jun;95(6):2053-2063. doi: 10.1007/s00204-021-03040-0. Epub 2021 Apr 13. Arch Toxicol. 2021. PMID: 33847778
Moreover, rs2681416 had an expression quantitative trait locus effect on the B7-2 flanking gene IQCB1 in colon tissues, which contributed to colon cancer risk by regulating genome organization and influenced the expression of IQCB1 in an allele-specific manne …
Moreover, rs2681416 had an expression quantitative trait locus effect on the B7-2 flanking gene IQCB1 in colon tissues, which contrib …
Single-cell transcriptomic analysis of the role of HPV16-positive macrophages in cervical cancer prognosis.
Wang S, Li X, Liu C, Yuan Y, Ma F. Wang S, et al. J Med Virol. 2023 Jan;95(1):e28410. doi: 10.1002/jmv.28410. J Med Virol. 2023. PMID: 36519591
Almost all cases of cervical cancer (CC) can be attributed to high-risk human papillomavirus (HPVs) infections in keratinocytes. ...HPV16(+) macrophages highly expressed the genes that promote cell adhesion and the favorable genes such as WAS, IQCB1, MYO1F, and PDZD …
Almost all cases of cervical cancer (CC) can be attributed to high-risk human papillomavirus (HPVs) infections in keratinocytes. ...H …
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.
Nash BM, Ma A, Ho G, Farnsworth E, Minoche AE, Cowley MJ, Barnett C, Smith JM, Loi TH, Wong K, St Heaps L, Wright D, Dinger ME, Bennetts B, Grigg JR, Jamieson RV. Nash BM, et al. Int J Mol Sci. 2022 Mar 31;23(7):3905. doi: 10.3390/ijms23073905. Int J Mol Sci. 2022. PMID: 35409265 Free PMC article.
Further molecular investigations were facilitated by focused assays in these regions. Deep intronic variants were identified in IQCB1 and ABCA4, with functional RNA based studies of the IQCB1 variant revealing activation of a cryptic splice acceptor site. ...
Further molecular investigations were facilitated by focused assays in these regions. Deep intronic variants were identified in IQCB1 …
Identification of alternative splicing events regulated by the oncogenic factor SRSF1 in lung cancer.
de Miguel FJ, Sharma RD, Pajares MJ, Montuenga LM, Rubio A, Pio R. de Miguel FJ, et al. Cancer Res. 2014 Feb 15;74(4):1105-15. doi: 10.1158/0008-5472.CAN-13-1481. Epub 2013 Dec 26. Cancer Res. 2014. PMID: 24371231
Abnormal alternative splicing has been associated with cancer. Genome-wide microarrays can be used to detect differential splicing events. ...In conclusion, using a novel analytical tool, we have identified new splicing events regulated by the oncogenic splicing factor SRS …
Abnormal alternative splicing has been associated with cancer. Genome-wide microarrays can be used to detect differential splicing ev …
Identification of Prognostic Dosage-Sensitive Genes in Colorectal Cancer Based on Multi-Omics.
Chang Z, Miao X, Zhao W. Chang Z, et al. Front Genet. 2020 Jan 9;10:1310. doi: 10.3389/fgene.2019.01310. eCollection 2019. Front Genet. 2020. PMID: 31998369 Free PMC article.
Several studies have already identified the prognostic markers in colorectal cancer (CRC) based on somatic copy number alteration (SCNA). However, very little information is available regarding their value as a prognostic marker. ...Function enrichment analysis revealed th …
Several studies have already identified the prognostic markers in colorectal cancer (CRC) based on somatic copy number alteration (SC …