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    MEGF10 multiple EGF like domains 10 [ Homo sapiens (human) ]

    Gene ID: 84466, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    [A family with early onset myopathy caused by MEGF10 gene defect and literature review].

    [A family with early onset myopathy caused by MEGF10 gene defect and literature review].
    Lin YF, Wu XY, Yang L, Cheng GQ, Huang Y, Zhuang DY.

    03/6/2023
    Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.

    Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.
    AlMuhaizea M, Dabbagh O, AlQudairy H, AlHargan A, Alotaibi W, Sami R, AlOtaibi R, Ali MM, AlHindi H, Colak D, Kaya N., Free PMC Article

    02/12/2022
    ZNF667-AS1, a positively regulating MEGF10, inhibits the progression of uveal melanoma by modulating cellular aggressiveness.

    ZNF667-AS1, a positively regulating MEGF10, inhibits the progression of uveal melanoma by modulating cellular aggressiveness.
    Yang H, Cai MY, Rong H, Ma LR, Xu YL.

    07/31/2021
    Findings indicate that the risk alleles and haplotype near the multiple epidermal growth factor-like-domains 10 (MEGF10) transcription start site (TSS) might modulate transcriptional activity and increase the susceptibility to autism.

    Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population.
    Wu Z, Qin J, You Y, Ma Y, Jia M, Wang L, Lu T, Yue W, Ruan Y, Zhang D, Li J, Wang L., Free PMC Article

    01/12/2019
    Results suggested that methylation level and mRNA expression of MEGF10 in glioma were not only correlated with IDH mutation but also associated with clinical outcome of patients.

    MEGF10, a Glioma Survival-Associated Molecular Signature, Predicts IDH Mutation Status.
    Li G, Wang Z, Zhang C, Liu X, Yang F, Sun L, Liang J, Hu H, Liu Y, You G, Bao Z, Zhang W, Wang Z, Jiang T., Free PMC Article

    10/27/2018
    Concentrating on hypermethylated genes to identify candidate tumor suppressor loci, the study found the cell engulfment and adhesion factor gene MEGF10 to be epigenetically repressed by DNA hypermethylation or by H3K27/K9 methylation in neuroblastoma cell lines.

    Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma.
    Charlet J, Tomari A, Dallosso AR, Szemes M, Kaselova M, Curry TJ, Almutairi B, Etchevers HC, McConville C, Malik KT, Brown KW., Free PMC Article

    09/16/2017
    MEGF10 mutations can cause myopathy with adult-onset respiratory insufficiency

    Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.
    Liewluck T, Milone M, Tian X, Engel AG, Staff NP, Wong LJ.

    07/29/2017
    results indicate that myogenin is a positive regulator in transcriptional regulation of MEGF10 in skeletal muscle

    Myogenin is a positive regulator of MEGF10 expression in skeletal muscle.
    Park SY, Yun Y, Kim MJ, Kim IS.

    11/8/2014
    Megf10 is required for preserving the undifferentiated, proliferative potential of satellite cells, myogenic precursors that regenerate skeletal muscle in response to injury or disease.

    Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
    Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB, Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB., Free PMC Articles: PMC3332380, PMC3332380

    09/1/2012
    Mutations in MEGF10 cause a recessive congenital myopathy with minicores and suggest satellite cell dysfunction as the pathogenic mechanism

    Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
    Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB, Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB., Free PMC Articles: PMC3332380, PMC3332380

    04/30/2012
    Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

    Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
    Logan CV, Lucke B, Pottinger C, Abdelhamed ZA, Parry DA, Szymanska K, Diggle CP, van Riesen A, Morgan JE, Markham G, Ellis I, Manzur AY, Markham AF, Shires M, Helliwell T, Scoto M, Hübner C, Bonthron DT, Taylor GR, Sheridan E, Muntoni F, Carr IM, Schuelke M, Johnson CA.

    01/21/2012
    The results of this study suggested that no association between schizophrenia and rs27388 of the MEGF10 gene in Chinese case-control sample.

    No association between schizophrenia and rs27388 of the MEGF10 gene in Chinese case-control sample.
    Yun L, Gu Y, Hou Y.

    05/14/2011
    MEGF10 is involved in the uptake of amyloid-beta peptide (Abeta42) in the brain.

    MEGF10 functions as a receptor for the uptake of amyloid-β.
    Singh TD, Park SY, Bae JS, Yun Y, Bae YC, Park RW, Kim IS.

    10/23/2010
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    in a system of forced expression by transfection, MEGF10 function can be modulated by the ATP binding cassette transporter ABCA1, ortholog to CED-7

    Cooperation between engulfment receptors: the case of ABCA1 and MEGF10.
    Hamon Y, Trompier D, Ma Z, Venegas V, Pophillat M, Mignotte V, Zhou Z, Chimini G., Free PMC Article

    03/22/2010
    In expression studies, MEGF10 had higher expression levels in the affected than the unaffected (p = .015). Schizophrenia patients with a 1/1 genotype at rs27388 had higher expressions than those patients with 1/2 and 2/2 genotypes (p = .0008).

    MEGF10 association with schizophrenia.
    Chen X, Wang X, Chen Q, Williamson V, van den Oord E, Maher BS, O'Neill FA, Walsh D, Kendler KS, Chen X, Wang X, Chen Q, Williamson V, van den Oord E, Maher BS, O'Neill FA, Walsh D, Kendler KS., Free PMC Articles: PMC2268016, PMC2268016

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (3) articles

    Apoptotic engulfment pathway and schizophrenia.
    Chen X, Sun C, Chen Q, O'Neill FA, Walsh D, Fanous AH, Chowdari KV, Nimgaonkar VL, Scott A, Schwab SG, Wildenauer DB, Che R, Tang W, Shi Y, He L, Luo XJ, Su B, Edwards TL, Zhao Z, Kendler KS.

    Vascular endothelial growth factor gene polymorphisms are associated with the risk of developing adenomyosis.
    Kang S, Zhao J, Liu Q, Zhou R, Wang N, Li Y.

    MEGF10 association with schizophrenia.
    Chen X, Wang X, Chen Q, Williamson V, van den Oord E, Maher BS, O'Neill FA, Walsh D, Kendler KS, Chen X, Wang X, Chen Q, Williamson V, van den Oord E, Maher BS, O'Neill FA, Walsh D, Kendler KS.

    03/13/2008
    An interaction between MEGF10 and clathrin assembly protein complex 2 medium chain (AP50), a component of clathrin-coated pits was identified.

    MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation.
    Suzuki E, Nakayama M.

    01/21/2010
    Human MEGF10 is an ortholog of Ced1.

    The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern.
    Suzuki E, Nakayama M.

    01/21/2010
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