Ask about this productRelated genes to: MEF2C Blocking Peptide
- Gene:
- MEF2C NIH gene
- Name:
- myocyte enhancer factor 2C
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 5q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 1995-02-08
- Date modifiied:
- 2015-08-25
Related products to: MEF2C Blocking Peptide
Related articles to: MEF2C Blocking Peptide
- Acute myeloid leukemia (AML) is a hematologic malignancy caused by the malignant proliferation and differentiation block of immature myeloid cells (blasts) in the bone marrow. The pathogenesis, diagnostic classification, treatment, and prognosis of AML are fundamentally linked to the accumulation of genetic variants, fusion gene formation, and chromosomal karyotype abnormalities. Using mRNA sequencing (next-generation sequencing, NGS), we identified and validated two novel fusion genes, and , in a case of AML-M2a. This patient also harbored six single nucleotide variants (SNV) (, , , , , and ) and complex karyotype (CK). The chromosomes exhibited extreme instability and high variability, with tumor cells containing multiple clones and showing continuous karyotype evolution as the disease progressed. The patient was treated with three chemotherapy regimens (VMA, VHAA, and Decitabine-Venetoclax), but none achieved remission. We propose that the combination of these novel fusion genes, multiple SNVs, and the complex karyotype collectively contributed to the patient's multidrug resistance. - Source: PubMed
Publication date: 2026/08/18
Tu JifangWang YunguiGao XiangliWang HuanpingWang HuafengJin JieTong Hongyan - The metabolic importance of brown adipose tissue (BAT) has been recognized, but its origins, particularly supraclavicular BAT (scBAT), remain unclear. Here, we traced scBAT to Mef2c-anterior heart field (AHF)-marked cells. Mef2c-AHF-marked cells isolated from scBAT can spontaneously differentiate into brown adipocytes, express mesenchymal stem cell markers, and can be isolated from the stromal-vascular fraction (SVF) of wild-type scBAT as [CD31CD45Sca-1CD29CD34CD24] (CD34) cells. Mef2c-AHF-marked cells substantially overlap with Prrx1-marked cells in scBAT, which also contribute to beige adipocytes in inguinal white adipose tissue (iWAT). Similarly, CD34 cells isolated from the SVF of iWAT can spontaneously differentiate into beige adipocytes in vitro. Intersectional lineage tracing shows that common progenitors of Mef2c-AHF- and Prrx1-marked cells in scBAT emerge from the developing heart. Thus, these studies reveal a common origin for scBAT and cardiac tissue and suggest that scBAT and iWAT beige adipocytes arise from progenitor populations with overlapping lineage origins and molecular characteristics. - Source: PubMed
Publication date: 2026/08/14
Ran YaliZhang KaiShen Yi-TingMo QianxingWang ZiyiYalamanchili Hari KrishnaJohn SharonKogiso MariGao XiaWang ChunmeiSinha TanviBlack Brian LChen Miao-Hsueh - Attention-Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3) previously implicated in ADHD, in an indigenous sample, comparing them with reference populations from the 1000 Genomes Project. Exome data from 64 individuals representing 12 Indigenous groups from the Brazilian Amazon were analyzed. Among the identified, 99 met the inclusion criteria. Four previously unreported variants in the developed reference datasets were identified in ADGRL3, DCC, and FOXP2. Significant differences in allele frequencies were observed for 56 variants compared with continental populations. Multidimensional scaling analysis indicated genetic differentiation of the Indigenous group in relation to other populations. This study highlights the distinct genetic profile of Amazonian Indigenous populations, likely shaped by demographic and evolutionary processes such as genetic drift and founder effects. The identification of exclusive variants and marked allele frequency differences reinforces the importance of including historically underrepresented populations in genomic studies related to ADHD and neurodevelopment, contributing to a broader understanding of human genetic diversity. - Source: PubMed
Publication date: 2026/08/11
de Matos Hirlesson PaixãoMonte NatashaAguiar Kaio Evandro Cardosode Cássia Calderaro RitaSantos Aline PasquiniRodrigues Juliana Carla GomesRibeiro-Dos-Santos André MaurícioDe Souza Sandro JoséRibeiro-Dos-Santos ÂndreaGuerreiro João FariasSantos Sidney Emanuel Batista DosSantos Ney Pereira Carneiro Dos - Periodontitis is a long-term inflammatory disease of the gums that damages the tissues and bone supporting the teeth. Recent studies suggest that changes in cellular metabolism may influence immune responses during chronic inflammation; however, the contribution of fumarate-associated transcriptional programs to periodontitis remains unclear. In this study, we integrated bulk transcriptomic data from human periodontal tissues with single-cell RNA sequencing data to identify fumarate-associated genes and cell clusters associated with periodontitis. Our analyses revealed a fumarate-associated immune regulatory signature that was enriched in periodontitis. Three genes, C3, CXCR4, and MEF2C, were consistently increased in diseased tissues and showed similar expression trends in a ligature-induced mouse model of periodontitis. These genes showed transcript-level diagnostic potential and were predominantly expressed in immune cells, including myeloid cells and neutrophils, as well as stromal cells. In addition, computational drug screening and molecular docking highlighted carbenoxolone and a CXCR4 antagonist (USL311) as potential candidates for future study. Overall, this study provides an integrative view of fumarate-associated immunometabolic alterations in periodontitis and identifies candidate transcriptomic markers and therapeutic hypotheses that warrant further experimental validation. - Source: PubMed
Publication date: 2026/08/05
Liu RongpengLv JinfengZeng YaoWang JiepingWang XiaoyanLiu YangLi ShuoQin HanZaheen SumbalLiu ZuohuaSong JinlinZhou Chan - Cytogenomics, including karyotyping, FISH, chromosomal microarrays, and optical genome mapping, has yielded significant results for clinical phenotypes in constitutional and cancer genetics, including intellectual disability, autism spectrum disorders, dysmorphic features, and hematological and solid-tissue neoplasia. However, some of these assays have yielded results of unclear significance because the abnormalities detected were often located in intergenic regions of the genome. Because these abnormalities are within the "dark matter" of the genome, their clinical significance has been a matter of speculation. However, functional genomics can explore the clinical implications of such abnormalities more robustly, whether the abnormalities disrupt topologically associating domains (TADs), delete regulatory regions, etc. Some human genetic diseases associated with these intergenic abnormalities and characterized by functional genomics include preaxial polydactyly ( gene), Pierre Robin syndrome (), and 5q14.3 microdeletion syndrome (). While functional genomics is a broad research topic, this review focuses on prior and current efforts to leverage functional genomics within the intergenic regions for human health. - Source: PubMed
Publication date: 2026/06/30
Gonzales Patrick R