International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Olfactory dysfunction (OD) is an increasingly recognized but under‐investigated comorbidity of cystic fibrosis (CF). Its prevalence, assessment methods, and response to CF‐directed treatment, including highly effective modulator therapy (HEMT) remains incompletely characterized.
Luca Cox +5 more
wiley +1 more source
Modified meiosis in the tardigrade Hypsibius exemplaris maintains heterozygosity across the genome. [PDF]
GeneticsCoke AN +4 more
europepmc +1 more source
A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant
Animal Models and Experimental Medicine, EarlyView.Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund +7 more
wiley +1 more source
Comparison of Heterozygosity and Genetic Diversity Between Wild and Domesticated Macadamia. [PDF]
Biology (Basel)Lakmini Manatunga S +5 more
europepmc +1 more source
Desmoplakin-Related Arrhythmogenic Cardiomyopathy Carriers and Desmosomal-Type Acantholysis: A Previous Description of the Keratinocyte "Fingerprint Sign". Comment on Metze et al. Desmosomal-Type Acantholysis-A New Histologic Pattern Related to Mutations of Genes for Desmosomal Proteins. <i>Dermatopathology</i> 2026, <i>13</i>, 17. [PDF]
Dermatopathology (Basel)Fernández-Flores Á.
europepmc +1 more source
Animal Models and Experimental Medicine, EarlyView.Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou +4 more
wiley +1 more source
An Investigation of Sleep Macro‐ and Microarchitecture by APOE Genotype
Annals of Neurology, EarlyView.Objectives Apolipoprotein E ε4 (APOE ε4), a robust genetic risk factor for Alzheimer's disease (AD) is associated with functional connectivity deficits and amyloid pathology in brain regions involved in sleep regulation. Thus, alterations in sleep architecture may be one pathway through which ε4 contributes to Alzheimer's disease vulnerability. However,
Gawon Cho +6 more
wiley +1 more source
Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients. [PDF]
Orphanet J Rare DisZhao M, Li F, Lu X, Zheng H, Du X.
europepmc +1 more source
Annals of Neurology, EarlyView.Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate +34 more
wiley +1 more source
Interleukin-6 Levels and Interleukin-6 rs1800795 Variant in Pediatric Familial Mediterranean Fever: Associations with Clinical Manifestations, Inflammatory Markers, and MEFV Mutation Status. [PDF]
Diagnostics (Basel)Dogantan S +4 more
europepmc +1 more source