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IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.
The gene affected in the congenital neuropathy familial dysautonomia (FD) is IKBKAP that codes for the IKAP/hELP1 protein. Several different functions have been suggested for this protein, but noneExpand
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IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.
Deficiency in the IKAP/Elp1 protein leads to the recessive sensory autosomal congenital neuropathy which is called familial dysautonomia (FD). This protein was originally identified as a role playerExpand
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S-adenosylmethionine blocks osteosarcoma cells proliferation and invasion in vitro and tumor metastasis in vivo: therapeutic and diagnostic clinical applications
Osteosarcoma (OS) is an aggressive and highly metastatic form of primary bone cancer affecting young children and adults. Previous studies have shown that hypomethylation of critical genes is drivingExpand
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Genome-Wide Study of Hypomethylated and Induced Genes in Patients with Liver Cancer Unravels Novel Anticancer Targets
Purpose: We utilized whole-genome mapping of promoters that are activated by DNA hypomethylation in hepatocellular carcinoma (HCC) clinical samples to shortlist novel targets for anticancerExpand
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The signature of liver cancer in immune cells DNA methylation
BackgroundThe idea that changes to the host immune system are critical for cancer progression was proposed a century ago and recently regained experimental support.ResultsHerein, the hypothesis thatExpand
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Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation
A splicing mutation in the IKBKAP gene causes Familial Dysautonomia (FD), affecting the IKAP protein expression levels and proper development and function of the peripheral nervous system (PNS). HereExpand
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DNA demethylation and invasive cancer: implications for therapeutics
One of the hallmarks of cancer is aberrant DNA methylation, which is associated with abnormal gene expression. Both hypermethylation and silencing of tumour suppressor genes as well asExpand
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Identification of an Epigenetic Signature of Osteoporosis in Blood DNA of Postmenopausal Women
Osteoporosis is one of the most common age‐related progressive bone diseases in elderly people. Approximately one in three women and one in five men are predisposed to developing osteoporosis. InExpand
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Epigenetic mechanisms underlie the crosstalk between growth factors and a steroid hormone
Abstract Crosstalk between growth factors (GFs) and steroid hormones recurs in embryogenesis and is co-opted in pathology, but underlying mechanisms remain elusive. Our data from mammary cells implyExpand
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Personalized Cardio‐Metabolic Responses to an Anti‐Inflammatory Nutrition Intervention in Obese Adolescents: A Randomized Controlled Crossover Trial
Scope Chronic inflammation and hypoadiponectinemia are characteristics of obesity‐induced insulin resistance (IR). The effect of an anti‐inflammatory nutrition supplement (AINS) on IR and adiponectinExpand
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