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Structural polymorphism and diversity of human segmental duplications.
Nat Genet
January 2025
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies (from 85 samples representing 38 Africans and 47 non-Africans) in which the majority of autosomal SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms and sex chromosomes, we identify 173.
View Article and Find Full Text PDFDual ASXL1 and CSF3R mutations drive myeloid biased stem cell expansion and enhance neutrophil differentiation.
Blood Adv
January 2025
Oregon Health & Science University, Portland, Oregon, United States.
Mutations in the epigenetic regulator Additional Sex Combs-Like 1 (ASXL1) are frequently observed in chronic neutrophilic leukemia (CNL). CNL is a myeloproliferative neoplasm (MPN) driven by activating mutations in the Colony Stimulating Factor 3 Receptor (CSF3R), which cause excessive neutrophil production. Despite the high rates of co-occurrence, the interplay between ASXL1 and CSF3R mutations in hematopoiesis and leukemia remains poorly understood.
View Article and Find Full Text PDFPatient perspectives on educational needs in scleroderma-interstitial lung disease.
J Scleroderma Relat Disord
January 2025
Division of Pulmonary and Critical Care, Weill Cornell Medicine, New York, NY, USA.
Background: Systemic sclerosis is a chronic and rare connective tissue disease with multiorgan effects, including interstitial lung disease (ILD). Navigating systemic sclerosis-interstitial lung disease presents a challenge for patients due to the gaps in patient education, which can impact patient health and quality of life. This study utilized the nominal group technique to identify priority knowledge gaps among patients with systemic sclerosis-interstitial lung disease and inform future educational interventions and research.
View Article and Find Full Text PDFDirect Measurement of the Mutation Rate and Its Evolutionary Consequences in a Critically Endangered Mollusk.
Mol Biol Evol
January 2025
Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, Santa Cruz, CA 95060, USA.
The rate at which mutations arise is a fundamental parameter of biology. Despite progress in measuring germline mutation rates across diverse taxa, such estimates are missing for much of Earth's biodiversity. Here, we present the first estimate of a germline mutation rate from the phylum Mollusca.
View Article and Find Full Text PDFTracing the paths of modular evolution by quantifying rearrangement events of protein domains.
BMC Ecol Evol
January 2025
Institute for Evolution and Biodiversity, University of Münster, Münster, 48159, Germany.
Background: Protein evolution is central to molecular adaptation and largely characterized by modular rearrangements of domains, the evolutionary and structural building blocks of proteins. Genetic events underlying protein rearrangements are relatively rare compared to changes of amino-acids. Therefore, these events can be used to characterize and reconstruct major events of molecular adaptation by comparing large data sets of proteomes.
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