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Review, Journal: Perspectives and challenges in developing small molecules targeting purine nucleoside phosphorylase. (Pubmed Central) - May 11, 2024 The most recent direction in PNP inhibitor development has been focused on PNP small-molecule inhibitors with better potency, selectivity, and pharmacokinetic property. In this perspective, considering the structure, biological functions, and disease relevance of PNP, we highlight the recent research progress in PNP small-molecule inhibitor development and discuss prospective strategies for designing additional PNP therapeutic agents.
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Variant Load in Childhood Nephrotic Syndrome Is Associated With Pattern of Therapy Response (Exhibit Hall, Orange County Convention Center, West Building) - Oct 13, 2022 - Abstract #KIDNEYWEEK2022KIDNEY_WEEK_3026; Genotyping was done using TaqMan and Direct Sanger Sequencing for 10 childhood NS risk loci: HLA-DQA1 (rs1129740 & rs1071630), BTNL2 (rs9348883), HLA-DR/DQ (rs4642516 & rs3134996), Intergenic (rs9273371), CALHM6 (rs2637678), NPHS1/KIRREL (rs56117924), TNFSF15 (rs6478109), and TNFRSF11A (rs34213471)...Variant load was associated with both SRNS and FR/SD (SRNS vs. SSNS p=1.98e -15 and IFR vs. FR/SD p=0.002). Conclusion Our study showed that genetic risk loci for childhood NS are associated with pattern of therapy response and may predict disease outcome.
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Journal: A multi-omics study links TNS3 and SEPT7 to long-term former smoking NSCLC survival. (Pubmed Central) - May 20, 2021 We identified two SNPs, rs34211819 at 7p12.3 (P = 3.90 × 10) and rs1143149 at 7p14.2 (P = 9.75 × 10), were significantly associated with survival of NSCLC patients who were long-term former smokers...Pathway enrichment analysis indicated a unique pattern among long-term former smokers that was related to immune pathways. This study provides important insights into the genetic architecture associated with long-term former smoking NSCLC.
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[VIRTUAL] EXPANDED GENOME-WIDE ASSOCIATION STUDY OF IBD IDENTIFIES OVER 80 NOVEL LOCI AND IMPLICATES NEW GENES AND PATHWAYS IN DISEASE SUSCEPTIBILITY (DDW Virtual) - Mar 15, 2021 - Abstract #DDW2021DDW_990; Five of the associated regions contain genes implicated in monogenic autosomal recessive syndromes that include colitis: DOCK8, G6PC3, HPS4, NCF1, RAG1, and RAG2. Many risk loci causally alter the expression of nearby genes, suggesting that aberrant expression of these genes underpins the IBD association, including TNFRSF8, PLCG1-AS1, ITPKC and CSF1.
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Clinical, Journal, Adverse events: Integrase strand transfer inhibitors and neuropsychiatric adverse events in a large prospective cohort. (Pubmed Central) - Jun 8, 2020 Although discontinuation for side effects was less frequent with dolutegravir than with boosted elvitegravir, discontinuation for NPAEs, although rare (2.7%), was more frequent with dolutegravir. No patient characteristic was found to be associated with these side effects in this very large population.
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