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Elucidating the genetic contributions to Parkinson's disease (PD) etiology across diverse ancestries is a critical priority for the development of targeted therapies in a global context. We conducted the largest sequencing characterization of potentially disease-causing, protein-altering and splicing mutations in 710 cases and 11,827 controls from genetically predicted African or African admixed ancestries. We explored copy number variants (CNVs) and runs of homozygosity (ROHs) in prioritized early onset and familial cases.
View Article and Find Full Text PDFHDC1 Promotes Primary Root Elongation by Regulating Auxin and K Homeostasis in Response to Low-K Stress.
Biology (Basel)
January 2025
Hunan Provincial Key Laboratory of Phytohormones and Growth Development, College of Bioscience and Biotechnology, Hunan Agricultural University, Changsha 410128, China.
Plants frequently encounter relatively low and fluctuating potassium (K) concentrations in soil, with roots serving as primary responders to this stress. Histone modifications, such as de-/acetylation, can function as epigenetic markers of stress-inducible genes. However, the signaling network between histone modifications and low-K (LK) response pathways remains unclear.
View Article and Find Full Text PDFUnravelling the case of suspected ectopic ureter in a young adult patient.
Radiol Case Rep
March 2025
Department of Radiology, Hasan Sadikin Academic Medical Center-Faculty of Medicine, University of Padjadjaran, Jatinangor, Indonesia.
An ectopic ureter (EU) opens outside the bladder's trigone, a rare condition with an incidence of 0.05%-0.025%.
View Article and Find Full Text PDFConstruing the resilience to osmotic stress using endophytic fungus in maize (Zea mays L.).
Plant Mol Biol
January 2025
Department of Plant Pathology, University of Agricultural Sciences, Gandhi Krishi Vignana Kendra (GKVK), Bengaluru, India.
In a wake of shifting climatic scenarios, plants are frequently forced to undergo a spectrum of abiotic and biotic stresses at various stages of growth, many of which have a detrimental effect on production and survival. Naturally, microbial consortia partner up to boost plant growth and constitute a diversified ecosystem against abiotic stresses. Despite this, little is known pertaining to the interplay between endophytic microbes which release phytohormones and stimulate plant development in stressed environments.
View Article and Find Full Text PDFUnraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Orphanet J Rare Dis
January 2025
Ophthalmology Department, Centro Hospitalar e Universitário de Coimbra (CHUC), Hospitais da Universidade de Coimbra (HUC), ULS Coimbra, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal.
Background: Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources.
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