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Biallelic germline MBD4 mutations predispose to colorectal polyposis, hypermutated AML, and schwannomasNARA Subscribed
Biallelic pathogenic variants in the MBD4 gene have recently been associated with an autosomal recessive cancer predisposition syndrome deemed “ MBD4 -associated neoplasia syndrome (MANS)”. Early reports of individuals with MANS highlight the propensity to develop young onset colorectal polyposis and hyper-mutated acute myeloid leukemia (AML). In the following case series, we present four patients with MANS from three families...
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...
Decoupled Climatic Drivers of Tree and Ground‐Layer Carbon Uptake in Mountain Ecosystems Around the WorldNARA Subscribed
One of the key ecological processes affected by climate change is plant carbon uptake. However, there is substantial uncertainty about how plant carbon uptake will respond to warming in mountain ecosystems, which are known for sharp temperature gradients and abrupt shifts in vegetation structure. Specifically, we lack an understanding of whether these response trajectories over time will be linear or non‐linear, and how they m...
Aim Coarse woody debris is increasingly being used in ecological restoration. We aimed to assess the global impacts of woody debris on ecosystem properties and functions. Location Global. Major Taxa Studied Soil biota, plants, soil function. Methods We conducted a quantitative global meta‐analysis of 66 studies (5234 observations) to assess how woody debris influences ecosystem health and specific ecological components, focusi...
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...
Two Contrasting Demographic Processes Shape the Divergence and Evolution of the Widespread Arid Zone Specialist, Petrogale lateralisNARA Subscribed
Organisms living in arid environments are predicted to be at increased risk of extinction under climatic and anthropogenic change. Response to past climate change can provide some insights into these risks; however, our understanding of the diversification and evolutionary history of many arid‐adapted species is still limited, particularly in Australia. Here, we evaluate the demographic and evolutionary history of a widespread...
Understanding the drivers of ecosystem collapse is critical for resource management, particularly for protected areas mandated to preserve biodiversity. In Rocky Mountain National Park, Colorado, tall willows ( Salix spp.) dominated riparian vegetation, and a beaver–willow state was the natural ecosystem type in the Colorado River headwaters. However, willows comprise a portion of elk diets and are a preferred food for recentl...
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesisNARA Subscribed
SMARCB1 is a core unit of the BAF chromatin remodelling complex and its functional impairment interferes with the self-renewal and pluripotency of stem cells, lineage commitment, cellular identity and differentiation. SMARCB1 is also an important tumour suppressor gene and somatic SMARCB1 pathogenic variants (PVs) have been detected in ~ 5% of all human cancers. Additionally, germline SMARCB1 PVs have been identified in patien...
Coexistence, Extinction and Survival—The Evolutionary History of Bison Species in Western EurasiaNARA Subscribed
European bison ( Bison bonasus ) are one of the few European megafaunal species to survive the Late Pleistocene mass megafaunal extinction. Current conservation management efforts have proceeded in the absence of information about their evolutionary history, which has been obscured by recent severe population bottlenecks. We characterized mitochondrial genomes from 135 ancient bison samples spanning > 50,000 years (> 50 ka) ac...