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Atrial Fibrillation Related Titin Truncation Is Associated With Atrial Myopathy in Patient-Derived Induced Pluripotent Stem Cell Disease Models.
Circ Genom Precis Med
January 2025
Centre for Heart Lung Innovation, University of British Columbia, Vancouver. (K.H., M.A., L.R., Y.L., A.S., H.H., L.R.B., Z.W.L.).
Background: Protein-truncating mutations in the titin gene are associated with increased risk of atrial fibrillation. However, little is known about the underlying pathophysiology.
Methods: We identified a heterozygous titin truncating variant (TTNtv) in a patient with unexplained early onset atrial fibrillation and normal ventricular function.
Targeted correction of megabase-scale duplication in induced pluripotent stem cells and impacts on gene expression.
PeerJ
January 2025
Genomic Mechanisms of Ontogenesis, Institute of Cytology and Genetics, Novosibirsk, Novosibirsk, Russia.
Copy number variations of the human gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. However, duplication of the full-length human gene presents with variable penetrance, resulting in phenotypes that range from neurodevelopmental disorders to no visible pathologies, even within the same family.
View Article and Find Full Text PDFEfficacy of cartilage-targeted IGF-1 in a mouse model of growth hormone insensitivity.
Front Endocrinol (Lausanne)
January 2025
Section on Growth and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD, United States.
Recombinant human IGF-1 is used to treat severe primary IGF-1 deficiency, but this treatment requires twice-daily injection, often does not fully correct the growth deficit, and has important off-target effects. We therefore sought to target IGF-1 to growth plate cartilage by generating fusion proteins combining IGF-1 with single-chain human antibody fragments that target matrilin-3, a cartilage matrix protein. We previously showed that this cartilage-targeting IGF-1 fusion protein (CV1574-1) promoted growth plate function in a GH-deficient (lit) mouse model.
View Article and Find Full Text PDFIterative optimization annotation pipeline and ALSS-YOLO-Seg for efficient banana plantation segmentation in UAV imagery.
Front Plant Sci
January 2025
Guangdong University of Technology, Guangzhou Higher Education Mega Centre, Guangzhou, China.
Precise segmentation of unmanned aerial vehicle (UAV)-captured images plays a vital role in tasks such as crop yield estimation and plant health assessment in banana plantations. By identifying and classifying planted areas, crop areas can be calculated, which is indispensable for accurate yield predictions. However, segmenting banana plantation scenes requires a substantial amount of annotated data, and manual labeling of these images is both timeconsuming and labor-intensive, limiting the development of large-scale datasets.
View Article and Find Full Text PDFMyofascial System and Physical Exercise: A Narrative Review on Stiffening (Part II).
Cureus
December 2024
Rehabilitation Medicine, Spine Center, Bologna, ITA.
In the past two decades, interest in the fascial system has exponentially increased, particularly manual treatment and stretching exercises. The fascia's fundamental role remains the transmission of tensions, although this function can be impaired due to excessive or reduced stiffness. This second part of the work outlines the basic principles concerning the importance of appropriate and balanced fascial stiffness for correct postural and functional maintenance of the human body.
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