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Fgf13 mutation

WebFibroblast growth factor 13 (FGF13) is aberrantly expressed in multiple cancer types, suggesting its essential role in tumorigenesis. Hence, we aimed to explore its …

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WebFGF13 enhances resistance to platinum drugs by regulating hCTR1 and ATP7A via a microtubule-stabilizing effect. FGF13 interaction with SHCBP1 activates AKT … WebAug 2, 2013 · Moreover, analogous to loss-of-function mutations in JPH2, we hypothesize that FGF13 mutations may lead to “orphaned ryanodine receptors” that are no longer apposed to Ca V 1.2, and thus may be associated with heart failure. 20 Further studies in the appropriate model are necessary to test that hypothesis. stanley school district wi https://paramed-dist.com

Entry - *300070 - FIBROBLAST GROWTH FACTOR 13; FGF13 - O…

WebMutations in fibroblast growth factor (FGF8) and FGF10 identified in patients with conotruncal defects. FGF10 and FGF13 genetic variation and tooth-size discrepancies. … WebFGF13 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, FGF13 Genome Browser, FGF13 References. FGF13 - Explore an overview of FGF13, with a histogram displaying coding mutations, full … WebDec 1, 1995 · Crouzon syndrome, an autosomal dominant condition characterized by craniosynostosis, ocular proptosis and midface hypoplasia, is associated with mutations in fibroblast growth factor receptor 2 ... stanley school

Entry - *300070 - FIBROBLAST GROWTH FACTOR 13; FGF13 - OMIM

Category:FGF13 Gene - Somatic Mutations in Cancer

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Fgf13 mutation

Fibroblast Growth Factor Homologous Factor 13 Regulates Na

WebFGF13 Gene - Somatic Mutations in Cancer FGF13 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, FGF13 Genome Browser, FGF13 References FGF13 - Explore an overview of … WebJun 29, 2024 · In the present study, mice with the point mutation of Fgf13 5′-UTR showed the defects of neuronal polarization, axon branching, …

Fgf13 mutation

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WebSecreted FGFs have been shown to be involved in a wide range of biological processes during normal physiological development including cell differentiation in the early embryo, pattern formation, branching … WebJun 29, 2024 · The human FGF13 sequence was highly conserved among many species including the mouse (Figure 2A), then we constructed the homologous mouse 5′-UTR …

WebMutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in a single family segregating a balanced translocation with a breakpoint in this X chromosome gene, predicting a partial knockout … WebView Clinical Trials for FGF13 FGF13 status serves as an inclusion eligibility criteria in 4 clinical trials, of which 3 are open and 1 is closed. Of the trials that contain FGF13 status …

Web1 with Fgf13 mouse models; 1 with human FGF13 associations Human Disease Mouse Models : intellectual disability. IDs View 1 model developmental and epileptic encephalopathy ... All Mutations and Alleles. 12. Endonuclease-mediated. 5. Targeted. 7. Find Mice (IMSR) 9 strains or lines available. WebJun 29, 2024 · Mice carrying the homologous point mutation in 5'-UTR of Fgf13 showed delayed neuronal migration during cortical development, and weakened learning …

WebMar 30, 2024 · Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in …

WebJun 22, 2012 · FGF13, a nonsecretory protein of the FGF family, is expressed in cerebral cortical neurons during development and is a candidate gene for syndromal and nonspecific forms of X-chromosome-linked mental retardation (XLMR). However, its function during development remains unclear. perth ontario real estateWebThis protein is part of a family of fibroblast growth factor receptors that share similar structures and functions. These receptor proteins play a role in important processes such as cell division, regulating cell growth and maturation, formation of blood vessels, wound healing, and embryo development. perth ontario police checkWebAug 4, 2011 · FGF13 interacts directly and colocalizes with Na V 1.5 in adult mouse ventricular myocytes lysates.A, Detection of endogenous FGF13 in mouse ventricle by immunoblot with an FGF13 antibody or FGF13 antibody plus the immunizing FGF13 peptide antigen. GAPDH was used as loading control. ... Mutation analysis in the fibroblast … perth ontario rv dealerWebFeb 23, 2024 · Fibroblast Growth Factor 13 ( FGF13) encodes an intracellular protein involved in microtubule stabilization and regulation of voltage-gated sodium channels (VGSCs) function. FGF13 mutation has been identified in patients with inherent seizure, suggesting a potential association between FGF13 and the etiology of TLE. stanley school pensbyWebIn the article by Yu et al., the team explores the pathogenesis of deafness and its association with the Fgf13 mutation. The study reveals the novel role of Fgf13 in auditory function, in which it regulates the survival of spiral ganglion neurons in the inner ear making it a potential drug target for treating deafness. stanley school district north dakotaWebHomozygous mice Fgf13 fl/Y; Atoh1-cre (Fgf13 –/Y) and Fgf13 –/–; Atoh1-cre (Fgf13 –/–) were denoted knockout (Fgf13 cKO) mice and Fgf13 –/+; Atoh1-cre (Fgf13 –/+) were … perth ontario taxi serviceWebDec 1, 2016 · Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in a single family segregating a … stanley school thingwall