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Fgf13 mutation

WebThe FGF13 gene encodes fibroblast growth factor-13, which belongs to a subclass of fibroblast growth factors expressed in the developing and adult central nervous system ( … 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 …

FGF13 suppresses acute myeloid leukemia by regulating bone …

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 … 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 ... sanitary sewer smart covers https://planetskm.com

Fibroblast Growth Factor Homologous Factor 13 Regulates Na

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

Elmo1 overexpression in hippocampal neurons affects axonal …

Category:FGF13 Gene - Somatic Mutations in Cancer - Wellcome …

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Fgf13 mutation

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

WebOverview NCI Definition: A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. WebIn 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.

Fgf13 mutation

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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. 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 …

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

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 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 …

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 …

WebFGF13 mutation has been identified in patients with inherent seizure, suggesting a potential association between FGF13 and the etiology of TLE. Here, we set to explore the pathological role of ... short funny sister quotesWebJun 29, 2024 · Mice carrying the homologous point mutation in 5'-UTR of Fgf13 showed delayed neuronal migration during cortical development, and weakened learning … sanitary sewer shut off valveWebJun 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 … short funny stories about prayerWebJun 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 … sanitary sewer pressure testingWebIn 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 … short funny skit scriptsWebFGF13 enhances resistance to platinum drugs by regulating hCTR1 and ATP7A via a microtubule-stabilizing effect. FGF13 interaction with SHCBP1 activates AKT … short funny stories to readWebHomozygous 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 … short funny quotes laugh