D. Finlay results 45
· Newest (Page 1/2, per page 25)
Author: D. Finlay ×Clear All Filters
Search Results
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...
The germline MLH1 c.-42 C > T (rs41285097) promoter variant has been identified in cases with MLH1-deficient colorectal or endometrial cancers but remains a variant of uncertain significance. Genetic testing identified two new MLH1 c.-42 C > T index cases from Australia and the USA. Clinicopathologic and molecular characterisation of tumour and non-neoplastic tissues was performed to investigate the potential mechanism of path...
Interrupting marine fouling with active buffered coatingsNARA Subscribed
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...
Germline pathogenic variants in the DNA mismatch repair (MMR) genes (Lynch syndrome) predispose to colorectal (CRC) and endometrial (EC) cancer. However, mosaic variants in the MMR genes have been rarely described. We identified a likely de novo mosaic MSH6 :c.1135_1139del p.Arg379* pathogenic variant in a patient diagnosed with suspected Lynch syndrome/Lynch-like syndrome. The patient developed MSH6-deficient EC and CRC at 54...
Prolonging survival in good health is a fundamental societal goal. However, the leading determinants of disability-free survival in healthy older people have not been well established. Data from ASPREE, a bi-national placebo-controlled trial of aspirin with 4.7 years median follow-up, was analysed. At enrolment, participants were healthy and without prior cardiovascular events, dementia or persistent physical disability. Disab...
Longitudinal patterns and linkages in benthic fine particulate organic matter composition, respiration, and nutrient uptakeNARA Subscribed
Longitudinal changes in the structure and function of river ecosystems have long been recognized, yet our understanding of how such patterns shape elemental cycles remains limited. In particular, while benthic fine particulate organic matter (POM, 0.7–1000 μm) may control many stream nutrient cycles, less is known about longitudinal patterns or controls of benthic POM‐associated nutrient uptake. We conducted a survey of benthi...
A tipping point in carbon storage when forest expands into tundra is related to mycorrhizal recycling of nitrogenNARA Subscribed
Tundra ecosystems are global belowground sinks for atmospheric CO 2 . Ongoing warming‐induced encroachment by shrubs and trees risks turning this sink into a CO 2 source, resulting in a positive feedback on climate warming. To advance mechanistic understanding of how shifts in mycorrhizal types affect long‐term carbon (C) and nitrogen (N) stocks, we studied small‐scale soil depth profiles of fungal communities and C–N dynamics...
A Hybrid Model-Based Adaptive Framework for the Analysis of Climate Change Impact on Reservoir PerformanceNARA Subscribed
Climate change and population growth have influenced social and physical water scarcity in many regions. Accordingly, the future performance of water storage reservoirs, as one of the fundamental elements in the water resource management, are anticipated to be affected by climate change. This study reports on a framework that can model Reliability-Resiliency-Vulnerability (RRV) measures of water reservoirs in the context of cl...
Farewell Stan Stanley Falkow: 1934–2018NARA Subscribed
Summary Plant roots select non‐random communities of fungi and bacteria from the surrounding soil that have effects on their health and growth, but we know little about the factors influencing their composition. We profiled bacterial microbiomes associated with individual ectomycorrhizal Pinus sylvestris roots colonized by different fungi and analyzed differences in microbiome structure related to soils from distinct podzol ho...
Winter diet composition of brown trout Salmo trutta was quantified from November to March in 35 temperate groundwater‐dominated streams in south‐eastern Minnesota, U.S.A., in relation to stream physical characteristics including drainage area, channel slope and influence of groundwater on stream thermal regime. Aquatic invertebrates made up the majority of S. trutta diet in all streams and sampling periods and individual S. tr...
Summary Symbiotic ectomycorrhizal tree roots represent an important niche for interaction with bacteria since the fungi colonizing them have a large surface area and receive a direct supply of photosynthetically derived carbon. We examined individual root tips of P inus sylvestris at defined time points between 5 days and 24 weeks, identified the dominant fungi colonizing each root tip using Sanger sequencing and the bacterial...
Photodegradation of methylmercury in stream ecosystemsNARA Subscribed
Photodegradation is an important sink for highly toxic methylmercury (MeHg) in aquatic ecosystems. Lakes have been extensively studied for MeHg photodegradation, but much less is known about streams, mainly because of the heterogeneity in sunlight availability along stream reaches and because there has been a lack of tools with which to integrate this longitudinal variability. We utilize odd‐mass anomalies of stable Hg isotope...