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Fgf13 mutation

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. WebFGF13 Mutation Back to Biomarkers List Associated Genetic Biomarkers Associated Diseases Overview Gene Location [ 1] Xq26.3-q27.1 Gene FGF13 Clinical Trials View Clinical Trials for FGF13 Mutation Significance of FGF13 Mutation in Diseases Urothelial Carcinoma + Cancer + Cholangiocarcinoma + Endometrial Carcinoma + Gastric …

Fibroblast growth factor homologous factor 13 regulates Na

WebFgf13 deficiency resulted in decreased SGN density from the apical to the basal region without significant morphological changes and those in the number of hair cells. TUNEL and caspase-3... WebFGF13 was shown to directly bind to and colocalize with Na v 1.5 in mouse cardiac cells. Reducing the expression of FGF13 decreased the Na + current, shifted the availability curve toward more negative potentials, and slowed recovery from inactivation. olympus vn 7200 manual pdf https://qandatraders.com

Elmo1 overexpression in hippocampal neurons affects axonal …

WebJan 22, 2024 · FGF13 provided by HGNC Official Full Name fibroblast growth factor 13 provided by HGNC Primary source HGNC:HGNC:3670 See related Ensembl ... Domain Mapping of Disease Mutations; FGF13; Eukaryotic Promoter Database; FGF13_1; GenScript latest version of gene cDNA ORF Clone; GenScript latest version of gene … 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 … WebThis deletion encompassed only one gene, Fibroblast Growth Factor Homologous Factor 13 (FGF13), which encodes a 216-amino acid protein that acts intracellularly in neurons … olympus vn 702pc user manual

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

Category:Fibroblast growth factor 13 is involved in the pathogenesis of …

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Fgf13 mutation

FGFR4 gene: MedlinePlus Genetics

WebJun 29, 2024 · In the present study, mice with the point mutation of Fgf13 5′-UTR showed the defects of neuronal polarization, axon branching, … 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 …

Fgf13 mutation

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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 … WebFeb 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.

WebHomozygous 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 … 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 …

WebThis 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. WebGene FGF13 Clinical Trials View Clinical Trials for FGF13 Mutation Significance of FGF13 Mutation in Diseases Urothelial Carcinoma + Cancer + Cholangiocarcinoma + …

WebNov 18, 2024 · A number of dysfunctional aberrations, such as gene amplification, chromosomal translocations, or missense point mutations have been identified in FGFs and FGFRs genes in various cancers [12,21,22,23,24].

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. is any cheese allowed on paleoWebIn addition, loss of Fgf13 reduced in vitro cell migration, suggesting that Fgf13 may be critical for tumor cells to escape the primary tumor and to … isany coiffure merignacWebFGF13 Gene - Somatic Mutations in Cancer FGF13 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, FGF13 Genome Browser, FGF13 References FGF13 - Explore an overview of … olympus vn-541 pc won\u0027t connect to pcWebFGF13 enhances resistance to platinum drugs by regulating hCTR1 and ATP7A via a microtubule-stabilizing effect. FGF13 interaction with SHCBP1 activates AKT … is any chairs that recline reclinersWebMar 30, 2024 · Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+) in … olympus vn-541pc voice recorder 4gbWebIn 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. olympus vn-7200 voice recorderWeb1 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. olympus voice recorder vn 541pc manual