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Research progress of RP1L1 gene in disease.
Liu J, Hayden MR, Yang Y. Liu J, et al. Gene. 2024 Jun 20;912:148367. doi: 10.1016/j.gene.2024.148367. Epub 2024 Mar 12. Gene. 2024. PMID: 38485037 Free article. Review.
Retinitis pigmentosa 1-like 1 (RP1L1) is a component of photoreceptor cilia. Pathogenic variants in RP1L1 cause photoreceptor diseases, suggesting that RP1L1 plays an important role in photoreceptor biology, although its exact function is unknown. ...Here, we …
Retinitis pigmentosa 1-like 1 (RP1L1) is a component of photoreceptor cilia. Pathogenic variants in RP1L1 cause photoreceptor …
RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration.
Daniute G, Vilkeviciute A, Gedvilaite G, Kriauciuniene L, Liutkeviciene R. Daniute G, et al. Ophthalmic Genet. 2022 Apr;43(2):164-171. doi: 10.1080/13816810.2021.2010770. Epub 2021 Dec 5. Ophthalmic Genet. 2022. PMID: 34865606
The incidence of the disease is only slightly below that of cancer and cardiovascular diseases. This study aimed to determine the association of RP1L1 single nucleotide polymorphism and serum RP1L1 levels with the onset of the early AMD. ...CONCLUSION: Based …
The incidence of the disease is only slightly below that of cancer and cardiovascular diseases. This study aimed to determine the ass …
Machine learning algorithm integrates bulk and single-cell transcriptome sequencing to reveal immune-related personalized therapy prediction features for pancreatic cancer.
Zang L, Zhang B, Zhou Y, Zhang F, Tian X, Tian Z, Chen D, Miao Q. Zang L, et al. Aging (Albany NY). 2023 Dec 12;15(23):14109-14140. doi: 10.18632/aging.205293. Epub 2023 Dec 12. Aging (Albany NY). 2023. PMID: 38095640 Free PMC article.
Pancreatic cancer (PC) is a digestive malignancy with worse overall survival. Tumor immune environment (TIME) alters the progression and proliferation of various solid tumors. ...Next, the immune-related signature (IRS) model was established based on 8 IRGs (SYT12, TNNT1, …
Pancreatic cancer (PC) is a digestive malignancy with worse overall survival. Tumor immune environment (TIME) alters the progression …
Efficacy and safety of anlotinib combined with the STUPP regimen in patients with newly diagnosed glioblastoma: a multicenter, single-arm, phase II trial.
Lai S, Li P, Liu X, Liu G, Xie T, Zhang X, Wang X, Huang J, Tang Y, Liu Z, Shen G, Li C, Lu F, Wang L, Jiang F, Sun C, Chen Y, Chen M. Lai S, et al. Cancer Biol Med. 2024 Mar 4;21(5):433-44. doi: 10.20892/j.issn.2095-3941.2023.0373. Cancer Biol Med. 2024. PMID: 38445445 Free PMC article. Clinical Trial.
HEG1 (HR, 5.6; 95% CI, 1.3-23.7; P = 0.021) and RP1L1 alterations (HR, 11.1; 95% CI, 2.2-57.2; P = 0.004) were associated with a significantly shorter PFS. CONCLUSIONS: Anlotinib plus the STUPP regimen has promising anti-tumor activity against glioblastoma and manageable t …
HEG1 (HR, 5.6; 95% CI, 1.3-23.7; P = 0.021) and RP1L1 alterations (HR, 11.1; 95% CI, 2.2-57.2; P = 0.004) were associated with a sign …
Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing.
Kassem PH, Montasser IF, Mahmoud RM, Ghorab RA, AbdelHakam DA, Fathi MESA, Wahed MAA, Mohey K, Ibrahim M, Hadidi ME, Masssoud YM, Salah M, Abugable A, Bahaa M, Khamisy SE, Meteini ME. Kassem PH, et al. BMC Med Genomics. 2024 Aug 9;17(1):202. doi: 10.1186/s12920-024-01965-w. BMC Med Genomics. 2024. PMID: 39123171 Free PMC article.
BACKGROUND: Hepatocellular carcinoma (HCC) is the most common primary liver cancer. Chronic hepatitis and liver cirrhosis lead to accumulation of genetic alterations driving HCC pathogenesis. ...Cancer Genome Landscape analysis revealed Tier 1 and Tier 2 variants in …
BACKGROUND: Hepatocellular carcinoma (HCC) is the most common primary liver cancer. Chronic hepatitis and liver cirrhosis lead to acc …
Whole exome-seq and RNA-seq data reveal unique neoantigen profiles in Kenyan breast cancer patients.
Wagutu G, Gitau J, Mwangi K, Murithi M, Melly E, Harris AR, Sayed S, Ambs S, Makokha F. Wagutu G, et al. Front Oncol. 2024 Dec 11;14:1444327. doi: 10.3389/fonc.2024.1444327. eCollection 2024. Front Oncol. 2024. PMID: 39723380 Free PMC article.
We aimed to profile neoantigens in Kenyan breast cancer patients using genomic DNA and total RNA from paired tumor and adjacent non-cancerous tissue samples of 23 patients. ...Neoantigen prediction focused on human leukocyte antigens (HLA) crucial to cancer, …
We aimed to profile neoantigens in Kenyan breast cancer patients using genomic DNA and total RNA from paired tumor and adjacent non- …
Whole genome and transcriptome sequencing of matched primary and peritoneal metastatic gastric carcinoma.
Zhang J, Huang JY, Chen YN, Yuan F, Zhang H, Yan FH, Wang MJ, Wang G, Su M, Lu G, Huang Y, Dai H, Ji J, Zhang J, Zhang JN, Jiang YN, Chen SJ, Zhu ZG, Yu YY. Zhang J, et al. Sci Rep. 2015 Sep 2;5:13750. doi: 10.1038/srep13750. Sci Rep. 2015. PMID: 26330360 Free PMC article.
Gastric cancer is one of the most aggressive cancers and is the second leading cause of cancer death worldwide. ...Here we describe a comprehensive whole-genome and transcriptome sequencing analysis of one advanced gastric cancer case, including non- …
Gastric cancer is one of the most aggressive cancers and is the second leading cause of cancer death worldwide. ...Here …
Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma.
Dong J, Maj C, Tsavachidis S, Ostrom QT, Gharahkhani P, Anderson LA, Wu AH, Ye W, Bernstein L, Borisov O, Schröder J, Chow WH, Gammon MD, Liu G, Caldas C, Pharoah PD, Risch HA, May A, Gerges C, Anders M, Venerito M, Schmidt T, Izbicki JR, Hölscher AH, Schumacher B, Vashist Y, Neuhaus H, Rösch T, Knapp M, Krawitz P, Böhmer A, Iyer PG, Reid BJ, Lagergren J, Shaheen NJ, Corley DA, Gockel I, Fitzgerald RC; Stomach and Oesophageal Cancer Study (SOCS) consortium; Cook MB, Whiteman DC, Vaughan TL, Schumacher J, Thrift AP. Dong J, et al. Gastroenterology. 2020 Dec;159(6):2065-2076.e1. doi: 10.1053/j.gastro.2020.08.052. Epub 2020 Sep 9. Gastroenterology. 2020. PMID: 32918910 Free PMC article.
After Bonferroni correction, our meta-analysis of sex-specific GWAS identified 1 variant at chromosome 6q11.1 (rs112894788, KHDRBS2-MTRNR2L9, P(BONF) = .039) that was statistically significantly associated with BE/EA risk in male individuals only, and 1 variant at chromosome 8p23 …
After Bonferroni correction, our meta-analysis of sex-specific GWAS identified 1 variant at chromosome 6q11.1 (rs112894788, KHDRBS2-MTRNR2L9 …
Identification of Genetic Alterations in Rapid Progressive Glioblastoma by Use of Whole Exome Sequencing.
Khan I, Işık EB, Mahfooz S, Khan AM, Hatiboglu MA. Khan I, et al. Diagnostics (Basel). 2023 Mar 7;13(6):1017. doi: 10.3390/diagnostics13061017. Diagnostics (Basel). 2023. PMID: 36980325 Free PMC article.
The top ten genes with the highest number of substitutions were MUC3A, MUC4, MUC6, OR4C5, PDE4DIP, AHNAK2, OR4C3, ZNF806, TTN, and RP1L1. Notably, variant prioritization after annotation indicated that the MTCH2 (Chr11: 47647265 A>G) gene sequence change was putative de …
The top ten genes with the highest number of substitutions were MUC3A, MUC4, MUC6, OR4C5, PDE4DIP, AHNAK2, OR4C3, ZNF806, TTN, and RP1L1 …
DUSP5 and PHLDA1 mutations in mature cystic teratomas of the ovary identified on whole-exome sequencing may explain teratoma characteristics.
Wang WC, Lai YC. Wang WC, et al. Hum Genomics. 2022 Oct 26;16(1):50. doi: 10.1186/s40246-022-00424-w. Hum Genomics. 2022. PMID: 36289533 Free PMC article.
METHODS: In the present study, 9 mature cystic teratomas of the ovary were analyzed by whole-exome sequencing and the results were compared with the Catalogue of Somatic Mutations in Cancer and dbSNP databases. RESULTS: Mutations were validated in 15 genes with alterations …
METHODS: In the present study, 9 mature cystic teratomas of the ovary were analyzed by whole-exome sequencing and the results were compared …
14 results