Publications by authors named "D Drichel"
Orofacial clefting (OFC) is a frequent congenital anomaly and can occur either in the context of underlying syndromes or in isolation (nonsyndromic). The two common OFC phenotypes are cleft lip with/without cleft palate (CL/P) and cleft palate only (CPO). In this study, we searched for penetrant CL/P genes, by evaluating de novo copy number variants (CNV) from an exome sequencing dataset of 50 nonsyndromic patient-parent trios.
View Article and Find Full Text PDFBackground: Mutations in the gene MTARC1 (mitochondrial amidoxime-reducing component 1) protect carriers from metabolic dysfunction-associated steatohepatitis (MASH) and cirrhosis. MTARC1 encodes the mARC1 enzyme, which is localized to the mitochondria and has no known MASH-relevant molecular function. Our studies aimed to expand on the published human genetic mARC1 data and to observe the molecular effects of mARC1 modulation in preclinical MASH models.
View Article and Find Full Text PDFDupuytren's disease (DD) is a highly heritable fibrotic disorder of the hand with incompletely understood etiology. A number of genetic loci, including Wnt signaling members, have been previously identified. Our overall aim was to identify novel genetic loci, to prioritize genes within the loci for functional studies, and to assess genetic correlation with associated disorders.
View Article and Find Full Text PDFArticle Synopsis
- Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is a genetic condition with complex causes, and while many risk loci have been identified, a significant portion of heritability remains unexplained.
- The study aimed to find new candidate genes by investigating de novo variants (DNVs) in nsCL/P patients and their parents, and then validated these findings in a larger, ethnically diverse group.
- Ultimately, the researchers identified 60 DNVs in 60 genes, including important candidate genes MDN1 and PAXIP1, demonstrating that detecting DNVs can effectively enhance our understanding of nsCL/P and potentially other similar genetic conditions.
Article Synopsis
- Smoking is the main cause of health problems and deaths that can be prevented, and our genes play a role in how we smoke and quit.
- Scientists studied DNA from 58,000 smokers and found important genetic spots that affect nicotine dependence, including two new ones they hadn’t discovered before.
- These genetic findings help us understand why some people find it harder to quit smoking and how their bodies react to nicotine.