Showing 41 - 60 results of 278 for search '"functional analysis"', query time: 0.09s Refine Results
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    Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

    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. by G Robert Aguilar, Berta Vidal, Hongzhu Ji, Joke Evenblij, Chien-Po Liao, Hongfei Ji, Giulio Valperga, Christopher Fang-Yen, Oliver Hobert

    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 by Liubov O. Skorodumova, Ekaterina N. Grafskaia, Daria D. Kharlampieva, Dmitry I. Maltsev, Tatiana V. Petrova, Alexandra V. Kanygina, Elena V. Fedoseeva, Pavel V. Makarov, Boris E. Malyugin

    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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