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DNA hydroxymethylation is associated with disease severity and persists at enhancers of oncogenic regions in multiple myeloma
BackgroundMultiple myeloma (MM) is a heterogeneous plasma cell malignancy that remains challenging to cure. Global hypomethylation correlates with an...
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Super-enhancers complexes zoom in transcription in cancer
Super-enhancers (SEs) consist of multiple typical enhancers enriched at high density with transcription factors, histone-modifying enzymes and...
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Exploiting PRMT5 as a target for combination therapy in mantle cell lymphoma characterized by frequent ATM and TP53 mutations
Constant challenges for the treatment of mantle cell lymphoma (MCL) remain to be recurrent relapses and therapy resistance, especially in patients...
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Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we...
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Epigenetic markers and therapeutic targets for metastasis
The last few years have seen an increasing number of discoveries which collectively demonstrate that histone and DNA modifying enzyme modulate...
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The omics era: a nexus of untapped potential for Mendelian chromatinopathies
The OMICs cascade describes the hierarchical flow of information through biological systems. The epigenome sits at the apex of the cascade, thereby...
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Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene
BackgroundWolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm...
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The effective function of circular RNA in colorectal cancer
Colorectal cancer (CRC) is the 3rd most common type of cancer worldwide. Late detection plays role in one-third of annual mortality due to CRC....
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The epigenomics of sarcoma
Epigenetic regulation is critical to physiological control of development, cell fate, cell proliferation, genomic integrity and, fundamentally,...
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Gene regulation by histone-modifying enzymes under hypoxic conditions: a focus on histone methylation and acetylation
Oxygen, which is necessary for sustaining energy metabolism, is consumed in many biochemical reactions in eukaryotes. When the oxygen supply is...
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PDGFD switches on stem cell endothelial commitment
The critical factors regulating stem cell endothelial commitment and renewal remain not well understood. Here, using loss- and gain-of-function...
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Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
The multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins provides comprehensive medical care for individuals with rare disorders that...
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Discoidin domain receptor 1 promotes hepatocellular carcinoma progression through modulation of SLC1A5 and the mTORC1 signaling pathway
PurposeHepatocellular carcinoma (HCC) is one of the most common cancers in the world with a high mortality rate. Receptor tyrosine kinases play...
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EZH1/2 as targets for cancer therapy
The enhancer of zeste homolog 2 (EZH2) and its highly related homolog EZH1 are considered to be epigenetic silencing factors, and they play key roles...
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Emerging paradigms: unmasking the role of oxidative stress in HPV-induced carcinogenesis
The contribution of the human papillomavirus (HPV) to cancer is significant but not exclusive, as carcinogenesis involves complex mechanisms, notably...
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Tumor-suppressive functions of protein lysine methyltransferases
Protein lysine methyltransferases (PKMTs) play crucial roles in histone and nonhistone modifications, and their dysregulation has been linked to the...
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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome...
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PHD Finger Protein 19 Promotes Cardiac Hypertrophy via Epigenetically Regulating SIRT2
Epigenetic regulations essentially participate in the development of cardiomyocyte hypertrophy. PHD finger protein 19 (PHF19) is a polycomb protein...
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Solid tumours hijack the histone variant network
Cancer is a complex disease characterized by loss of cellular homeostasis through genetic and epigenetic alterations. Emerging evidence highlights a...
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Leveraging epigenetics to enhance the efficacy of immunotherapy
BackgroundEpigenetic mechanisms regulate chromatin accessibility patterns that govern interaction of transcription machinery with genes and their...
