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Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencingNARA Subscribed
Lynch syndrome, the most common hereditary cancer syndrome, is caused by germline pathogenic variants in DNA mismatch repair (MMR) genes. Identifying complex or structural MMR gene pathogenic variants can be challenging with short-read sequencing resulting in patients with unexplained MMR-deficient tumours. In this study, we report multiple members of a family who developed MSH2-deficient tumours where clinical multi-gene pane...
Healthy maternal metabolism is critical during pregnancy and lactation to support fetal development and protect against environmental toxins. Polychlorinated biphenyl 11 (PCB 11), a lower-chlorinated, non-legacy congener, is detected in human serum, including pregnant women and children; however, its impact during these sensitive life stages remains poorly understood. This study presents the first comprehensive hepatic proteom...
Who needs closure? Estimating abundance with a Markovian availability model for geographically open removal samplingNARA Subscribed
Removal sampling is an important method for estimating abundance, but nearly all removal models assume closure during sampling. Yet, closure may be difficult to assume, evaluate, or enforce in many settings. To address situations where populations are geographically open between each removal sample, we incorporated a Markovian availability process into an N‐mixture model framework. This model relates local abundance available...
Follicular DNA Damage and Pesticide Exposure Among Latinx Children in Rural and Urban CommunitiesNARA Subscribed
The intersectional risks of children in United States immigrant communities include environmental exposures. Pesticide exposures and their biological outcomes are not well characterized in this population group. We assessed pesticide exposure and related these exposures to DNA double-strand breaks (DSBs) in Latinx children from rural, farmworker families (FW; N = 30) and from urban, non-farmworker families (NFW; N = 15) living...
Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X familyNARA Subscribed
Genetic susceptibility to familial colorectal cancer (CRC), including for individuals classified as Familial Colorectal Cancer Type X (FCCTX), remains poorly understood. We describe a multi-generation CRC-affected family segregating pathogenic variants in both BRCA1 , a gene associated with breast and ovarian cancer and RNF43 , a gene associated with Serrated Polyposis Syndrome (SPS). A single family out of 105 families meetin...