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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...
Copper extraction and phytotoxicity of organic acid leached mine tailings in Brassica napusNARA Subscribed
Mine tailings pose environmental hazards but can also contain economically valuable metals like copper (Cu). Organic solvents, particularly low molecular weight organic acids (LMWOAs), are natural and biodegradable acids with great potential for Cu removal and tailings remediation. We evaluated the potential of citric, malic, maleic, malonic and lactic acids (concentration of 1 M) in extracting Cu from legacy Cu-tailings, as w...
Interpretable deep learning reveals spatiotemporal MRI features of brain aging that align with neurodegenerationNARA Subscribed
Cortical thinning and atrophy are hallmarks of brain aging that have been characterized using magnetic resonance imaging (MRI). Brain aging involves many neuroanatomic features whose effects on brain structure remain unexplored. To address this challenge, we trained interpretable deep neural networks (DNNs) to estimate brain age (BA) from T 1 -weighted ( T 1 w) MRI. By identifying MRI features unapparent to humans, DNNs can fi...
People with physical and/or sensory disability have lower uptake of breast, cervical, and colorectal cancer screening than those without disability. This systematic review aims to identify evidence-based interventions designed to positively influence cancer screening participation for people with physical and/or sensory disability. Databases were searched for peer-reviewed studies reporting interventions targeting breast, cerv...
Alzheimer’s disease (AD) disproportionately affects women and carriers of the apolipoprotein E ε4 allele (APOE4), yet little is known about how sex and APOE interact to influence white matter (WM) integrity during disease progression. We integrated diffusion MRI and matched blood transcriptomic data to investigate these interactions and their underlying biological mechanisms. WM microstructure was quantified using diffusion te...
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...
Congener Conflict: Invasive Barred Owl Landscape Use Across the Range of the Northern Spotted OwlNARA Subscribed
Aim To map the probability of landscape use of invading barred owls ( Strix varia ) across the range of the threatened northern spotted owl ( S. Occidentallis Caurina ) in the Pacific Northwest, USA , identifying environmental drivers of barred owl landscape use to inform targeted management interventions. Location Forests of the Pacific Northwest, USA. Taxon Barred Owl ( Strix varia ). Methods We deployed 4081 autonomous reco...
Predicting the progression of MCI and Alzheimer’s disease on structural brain integrity and other features with machine learningNARA Subscribed
Machine learning (ML) on structural MRI data shows high potential for classifying Alzheimer’s disease (AD) progression, but the specific contribution of brain regions, demographics, and proteinopathy remains unclear. Using Alzheimer’s Disease Neuroimaging Initiative (ADNI) data, we applied an extreme gradient-boosting algorithm and SHAP (SHapley Additive exPlanations) values to classify cognitively normal (CN) older adults, th...
Approximately 30% of sebaceous skin lesions (or sebaceous neoplasia) demonstrate DNA mismatch repair (MMR)-deficiency. MMR-deficiency can be caused by Lynch syndrome, resulting from germline pathogenic variants in the DNA MMR genes MLH1 , MSH2 , MSH6 and PMS2 , but other causes include somatic MLH1 gene promoter hypermethylation, constitutional MLH1 gene promoter hypermethylation ( MLH1 epimutation), or biallelic somatic MMR g...
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...