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Extreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.
Turk J Haematol
January 2025
Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye.
Ectothermic arthropods, like ticks, are sensitive indicators of environmental changes, and their seasonality plays a critical role in tick-borne disease dynamics in a warming world. Juvenile tick phenology, which influences pathogen transmission, may vary across climates, with longer tick seasons in cooler climates potentially amplifying transmission. However, assessing juvenile tick phenology is challenging in climates where desiccation pressures reduce the time ticks spend seeking blood meals.
View Article and Find Full Text PDFMammalian genomes contain millions of regulatory elements that control the complex patterns of gene expression. Previously, The ENCODE consortium mapped biochemical signals across many cell types and tissues and integrated these data to develop a Registry of 0.9 million human and 300 thousand mouse candidate cis-Regulatory Elements (cCREs) annotated with potential functions .
View Article and Find Full Text PDFInflammatory discoveries two years after acute severe COVID-19: a longitudinal biomarker profile assessment in long COVID individuals in the Brazilian Amazon.
Front Immunol
January 2025
Diretoria de Ensino e Pesquisa, Fundação de Medicina Tropical Dr Heitor Vieira Dourado, Manaus, AM, Brazil.
Background: In SARS-CoV-2 infection, cytokines and laboratory biomarkers play a key role in disease progression and their long-term levels have been associated with the outcome of long COVID-19.
Objectives: I) study the levels of cytokines, hematological and biochemical biomarkers in the acute and post-acute phases of COVID-19 disease; and II) assess the impact of COVID-19 vaccine doses on fatigue symptoms.
Methods: This study is an exploratory cohort nested within a clinical and laboratory follow-up of surviving participants after pre-vaccine acute COVID-19 infection with severe clinical manifestations.
Characterization of a novel allele harboring a c.28 + 5G>A mutation on the background: a study utilizing PacBio third-generation sequencing and functional assays.
Front Immunol
January 2025
Blood Group Reference Laboratory, Dalian Blood Center, Dalian, China.
Background: Mutations in the ABO gene, including base insertions, deletions, substitutions, and splicing errors, can result in blood group subgroups associated with the quantity and quality of blood group antigens. Here, we employed third-generation PacBio sequencing to uncover a novel allele arising from an intron splice site mutation, which altered the expected A phenotype to manifest as an Ael phenotype. The study aimed to characterize the molecular mechanism underlying this phenotypic switch.
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