Although the pathway and transcription factor regulation of anthocyanin biosynthesis in tea plants [ Camellia sinensis (L.) O. Ktze] are known, post-transcriptional regulation mechanisms involved in anthocyanin accumulation have not been comprehensively studied. We obtained the full-length transcriptome of a purple cultivar (‘Zijuan’) and a normal green cultivar (‘Yunkang 10#) of C. sinensis var….
Genotype-guided antiplatelet therapy is increasingly being incorporated into clinical care. The purpose of this study is to determine the extent to which patients initially genotyped for CYP2C19 to guide antiplatelet therapy were prescribed additional medications affected by CYP2C19. We assembled a cohort of patients from eight sites performingCYP2C19 genotyping to inform antiplatelet therapy….
Discover. Educate. Advocate.
Montserrat Garcia-Closas and colleagues report findings from a new genome-wide association study (GWAS) for breast cancer identifying 32 novel susceptibility loci. Importantly, this study reveals genetic risk for breast cancer subtypes and expands the potential for the development of subtype-specific polygenic risk scores.
Want quality? We’ve got it. Our goal is to help you find the best home for your research, to ensure it is the best it can be, and to help you share it with the world.
Chondrogenic tumors involving the temporal bone are rare and typically arise spontaneously with unilateral presentation. Somatic IDH mutations are common in these tumors, but germline inheritance has not been documented to our knowledge. We describe familial chondrosarcoma, grade 1, of the mastoid with unilateral presentation in the mother and bilateral presentation in each of her two children….
Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this report, we describe three individuals with this clinical entity and mosaic PIK3CA variants, c.3140A>G; p.(His1047Arg), c.328_330delGAA; p.(Glu110del), and…
Human Papillomavirus (HPV) vaccine research in the Infections and Immunoepidemiology Branch
Congenital diaphragmatic hernia (CDH) is associated with significant mortality and long-term morbidity in some but not all individuals. We hypothesize monogenic factors that cause CDH are likely to have pleiotropic effects and be associated with worse clinical outcomes. We enrolled and prospectively followed 647 newborns with CDH and performed genomic sequencing on 462 trios to identify de novo…
Pedro Saint-Maurice, Charles Matthews, and collaborators find taking more steps daily improves life expectancy.