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Cloning and Functional Analysis of <i>BraTSD2</i> Associated with Root Swelling in Turnip (<i>Brassica rapa</i> L.)
Published 2025-01-01Subjects: Get full text
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Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses
Published 2025-02-01“…Herein, we are the first to report a 5-year-old boy with the blended phenotypes of infantile hypotonia, severe neurodevelopmental disorder, patent ductus arteriosus, cryptorchidism, obesity, distinctive facial features, and elevated isovaleryl carnitine.MethodsTrio-based whole-exome sequencing was performed on genomic DNA from peripheral blood samples from the boy and his parents. Functional analysis of the IVD variant in vitro was performed. …”
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Functional analysis of conserved C. elegans bHLH family members uncovers lifespan control by a peptidergic hub neuron.
Published 2025-01-01“…Strikingly, through null mutant analysis and cell-specific rescue experiments, we find that loss of hlh-15/NHLH in the peptidergic AVK neurons and the resulting abrogation of neuropeptide secretion from these neurons causes a substantially extended lifespan of the animal, which we propose to be akin to hypothalamic control of lifespan in vertebrates. Our functional analysis reveals themes of bHLH gene function during terminal differentiation that are complementary to the earlier lineage specification roles of other bHLH family members. …”
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TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation
Published 2024-07-01“…Genetic analysis revealed a homozygous deletion, NM_002353.3:c.653del, in the TACSTD2 gene. Functional analysis in a cell model system revealed the loss of the transmembrane domain and subcellular protein mislocalization. …”
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A novel ubiquitination-related gene signature for overall survival prediction in patients with liver hepatocellular carcinoma
Published 2025-01-01Subjects: Get full text
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Structural and Functional Approach to the Assessment of the Educational Programs Quality
Published 2020-10-01Subjects: Get full text
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Evolution of infectious diseases induced by epidemic prevention publicity and interaction between heterogeneous strains
Published 2024-08-01Subjects: Get full text
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Stature estimation and sex determination from contemporary Northeastern Thai clavicles using discriminant function and linear regression analyses
Published 2025-03-01Subjects: Get full text
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