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Copy Number Variation in Asthma: An Integrative Review.
Clin Rev Allergy Immunol
January 2025
Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil.
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
View Article and Find Full Text PDFAcute administration of NLX-101, a Serotonin 1A receptor agonist, improves auditory temporal processing during development in a mouse model of Fragile X Syndrome.
J Neurodev Disord
January 2025
Graduate Neuroscience Program, University of California, Riverside, CA, USA.
Background: Fragile X syndrome (FXS) is a leading known genetic cause of intellectual disability and autism spectrum disorders (ASD)-associated behaviors. A consistent and debilitating phenotype of FXS is auditory hypersensitivity that may lead to delayed language and high anxiety. Consistent with findings in FXS human studies, the mouse model of FXS, the Fmr1 knock out (KO) mouse, shows auditory hypersensitivity and temporal processing deficits.
View Article and Find Full Text PDFA Complex Case of Acute Liver Failure Following Idiosyncratic Drug-Induced Liver Injury, Potentiated by Herpes Simplex Virus Infection.
Cureus
December 2024
Internal Medicine, Unidade Local de Saúde de São José, Lisbon, PRT.
Acute liver failure (ALF) is a rare, life-threatening condition that may be secondary to drug-induced liver injury (DILI) and certain viral infections. We present the case of a 73-year-old male with a history of fibrotic hypersensitivity pneumonitis with a progressive phenotype, type 2 diabetes mellitus, hypertension, and hyperlipidemia, who was admitted with ALF potentially secondary to DILI. Prior to admission, he was receiving therapy that may be related to idiosyncratic DILI (I-DILI) and ALF, namely nintedanib, which appears to have a most probable relation to I-DILI in this case, considering it was the most recently started drug.
View Article and Find Full Text PDFZmL75 is required for colonization by arbuscular mycorrhizal fungi and for saline-alkali tolerance in maize.
J Genet Genomics
December 2024
Institute of Genetics and Developmental Biology, Key Laboratory of Seed Innovation, Chinese Academy of Sciences, Beijing 100101, China. Electronic address:
Saline-alkali soil severely reduces the productivity of crops, including maize (Zea mays). Although several genes associated with saline-alkali tolerance have been identified in maize, the underlying regulatory mechanism remains elusive. Here, we report a direct link between colonization by arbuscular mycorrhizal fungi (AMF) and saline-alkali tolerance in maize.
View Article and Find Full Text PDFCardio-metabolic and cytoskeletal proteomic signatures differentiate stress hypersensitivity in dystrophin-deficient mdx mice.
J Proteomics
December 2024
School of Biological Sciences, University of Canterbury, Christchurch 8041, New Zealand; Institute for Physical Activity and Nutrition, School of Exercise and Nutrition Sciences, Deakin University, Geelong, Australia; Department of Medicine, University of Otago, Christchurch 8014, New Zealand; Biomolecular Interaction Centre, School of Biological Sciences, University of Canterbury, Christchurch 8140, New Zealand; Maurice Wilkins Centre for Molecular Biodiscovery, Auckland 1010, New Zealand. Electronic address:
Extreme heterogeneity exists in the hypersensitive stress response exhibited by the dystrophin-deficient mdx mouse model of Duchenne muscular dystrophy. Because stress hypersensitivity can impact dystrophic phenotypes, this research aimed to understand the peripheral pathways driving this inter-individual variability. Male and female mdx mice were phenotypically stratified into "stress-resistant" or "stress-sensitive" groups based on their response to two laboratory stressors.
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