R1530 / Roche - LARVOL DELTA

Comparative Genomic Analysis of Active Multiple Myeloma and Monoclonal Gammopathy of Uncertain Significance Using Single Nucleotide Variants Microarray (IMW 2024) - "The top ten SNVs by the RF selection were: KIAA1614 rs17302207, ALPK2 rs9967112, TMEM132C rs117202260, NOTCH1 rs10870078, and MYO5B 17714688, MYOD1 rs71484784, ITGA9 rs76052815, ROS1 rs13201929, PLXNA2 rs72739456, and SHISA9 rs153096, with 80% of them being associated with cancer risk or tumoral progression In summary, our study underscores the potential role of extensive SNV genotyping in distinguishing between MGUS and MM... In summary, our study underscores the potential role of extensive SNV genotyping in distinguishing between MGUS and MM. We observed distinct SNV patterns indicating potential associations with prognostic biomarkers for susceptibility to MM progression, based on genes involved and their biological functions. These findings have implications for personalized therapeutic strategies in clinical practice."

Genomic analysis • Omic analysis • Hematological Malignancies • Monoclonal Gammopathy • Multiple Myeloma • Oncology • ALPK2 • ARHGEF3 • FSTL1 • ITGA9 • MMRN2 • MYOD1 • NOTCH1 • PLXNA2 • ROS1 • TRPC6

Allele-specific DNA methylation affecting the STEAP3 gene in renal cell carcinomas (AUA 2024) - "Recurrent gains of methylation in the STEAP3 - C2orf76 intergenic insulator in ccRCCs, preferentially affecting the rs1530562 ALT allele, have implications for new treatment approaches targeting ferroptosis. Our results further suggest that the GWAS signal for ccRCC in the STEAP3 gene warrants additional study, with ASM mapping helping to pinpoint candidate functional SNPs. A, WGBS of the STEAP3 insulator region in a ccRCC T/N pair (Red, methylated; Blue, unmethylated CpG)."

Epigenetic controller • Clear Cell Renal Cell Carcinoma • Genito-urinary Cancer • Oncology • Renal Cell Carcinoma • Solid Tumor • STEAP3

The primary ciliary dyskinesia-related genetic risk score is associated with susceptibility to adult-onset asthma. (PubMed, PLoS One) - "Genes associated with PCD, particularly the common SNPs associated with abnormal expression of DNAH5, may have a certain influence on the development of adult-onset asthma, perhaps through impaired mucociliary clearance."

Journal • Asthma • Otorhinolaryngology • Pulmonary Disease • Respiratory Diseases

CD40 gene polymorphism and its expression in children with Kawasaki disease from North India: a preliminary case-control study and meta-analysis. (PubMed, Front Pediatr) - "In the meta-analysis, the T allele of rs153045 was significantly associated with KD. Our study confirms a significant genetic heterogeneity in KD among different ethnicities."

IO biomarker • Journal • Retrospective data • CD40

Whole Transcriptome Sequencing Reveals Cancer-Related, Prognostically Significant Transcripts and Tumor-Infiltrating Immunocytes in Mantle Cell Lymphoma. (PubMed, Cells) - "Similarly, high expression of MSTRG.153013.3, an overexpressed alternative transcript, was associated with shortened MCL survival...WTS results were cross-validated with qRT-PCR of selected transcripts as well as linear correlation analyses. In conclusion, expression levels of oncogenesis-associated transcripts and/or the ratios of microenvironmental immunocytes in MCL tumors may be used to improve prognostication, thereby leading to better patient management and outcomes."

Journal • Hematological Malignancies • Lymphoma • Mantle Cell Lymphoma • Non-Hodgkin’s Lymphoma • Oncology • CCND1 • CD8 • PCA3 • ROR1 • SOX11 • VCAM1

Replication of European hypertension associations in a case-control study of 9,534 African Americans. (PubMed, PLoS One) - "These findings suggest that European-descent and AA populations share genetic loci that contribute to blood pressure traits and hypertension. However, the OR and beta-coefficient estimates differ, and some are age-dependent. Additional genetic studies of hypertension in AA are warranted to identify new loci associated with hypertension and blood pressure traits in this population."

Clinical • Journal • Cardiovascular • Coronary Artery Disease • Diabetes • Hypertension • Metabolic Disorders • Type 2 Diabetes Mellitus

Allele-Specific MicroRNA-Mediated Regulation of a Glycolysis Gatekeeper PDK1 in Cancer Metabolism. (PubMed, Cancers (Basel)) - "The present study is the first to report the regulation of the PDK1 gene by miRNAs in an allele-dependent manner and highlights the role of PDK1 in metabolic adaption associated with PCa progression."

Journal • Genito-urinary Cancer • Oncology • Prostate Cancer • Solid Tumor • PDPK1

Association of Wnt9B rs1530364 and Wnt5A rs566926 Gene Polymorphisms with Nonsyndromic Cleft lip and Palate in South Indian Population using Deoxyribonucleic Acid Sequencing. (PubMed, Contemp Clin Dent) - "This study also suggests that the likelihood of NSCLP is higher in subjects having CC (P = 0.02) genotype for Wnt9B gene variant rs1530364. We can conclude that Wnt9B gene variant rs1530364 can be considered as genetic marker for NSCLP for our population."

Clinical • Journal • PCR

Evaluation of Protein Kinase Inhibitors with PLK4 Cross-Over Potential in a Pre-Clinical Model of Cancer. (PubMed, Int J Mol Sci) - "Here, we examined an array of PK inhibitors (CFI-400945, CFI-400437, centrinone, centrinone-B, R-1530, axitinib, KW-2449, and alisertib) for their potential crossover to PLK4 by comparative structural docking and activity inhibition in multiple established embryonal tumor cell lines (MON, BT-12, BT-16, DAOY, D283). (3) KW-2449, R-1530 and axitinib are the ones predicted to have moderate-to-good brain penetration. In conclusion, a new selective PLK4 inhibitor with favorable physiochemical properties for optimal brain exposure can be beneficial for the treatment of EBT."

Journal

Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families. (PubMed, Mol Genet Genomic Med) - "Eight FBN1 mutations were identified in Chinese families with MFS and related disorder. These data expands FBN1 mutation spectrum and further emphasizes the role of FBN1 in the pathogenesis of MFS."

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