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  1. Article ; Online: Epigenetics and cardiovascular disease.

    Webster, Andrew L H / Yan, Matthew Shu-Ching / Marsden, Philip A

    The Canadian journal of cardiology

    2013  Volume 29, Issue 1, Page(s) 46–57

    Abstract: A commonly-assumed paradigm holds that the primary genetic determinant of cardiovascular disease resides within the DNA sequence of our genes. This paradigm can be challenged. For example, how do sequence changes in the non-coding region of the genome ... ...

    Abstract A commonly-assumed paradigm holds that the primary genetic determinant of cardiovascular disease resides within the DNA sequence of our genes. This paradigm can be challenged. For example, how do sequence changes in the non-coding region of the genome influence phenotype? Why are all diseases not shared between identical twins? Part of the answer lies in the fact that the environment or exogenous stimuli clearly influence disease susceptibility, but it was unclear in the past how these effects were signalled to the static DNA code. Epigenetics is providing a newer perspective on these issues. Epigenetics refers to chromatin-based mechanisms important in the regulation of gene expression that do not involve changes to the DNA sequence per se. The field can be broadly categorized into three areas: DNA base modifications (including cytosine methylation and cytosine hydroxymethylation), post-translational modifications of histone proteins, and RNA-based mechanisms that operate in the nucleus. Cardiovascular disease pathways are now being approached from the epigenetic perspective, including those associated with atherosclerosis, angiogenesis, ischemia-reperfusion damage, and the cardiovascular response to hypoxia and shear stress, among many others. With increasing interest and expanding partnerships in the field, we can expect new insights to emerge from epigenetic perspectives of cardiovascular health. This paper reviews the principles governing epigenetic regulation, discusses their presently-understood importance in cardiovascular disease, and considers the growing significance we are likely to attribute to epigenetic contributions in the future, as they provide new mechanistic insights and a host of novel clinical applications.
    MeSH term(s) Cardiovascular Diseases/genetics ; Epigenesis, Genetic ; Genetic Predisposition to Disease ; Humans ; Phenotype
    Language English
    Publishing date 2013-01
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 632813-1
    ISSN 1916-7075 ; 0828-282X
    ISSN (online) 1916-7075
    ISSN 0828-282X
    DOI 10.1016/j.cjca.2012.10.023
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  2. Article ; Online: Epigenetics of the vascular endothelium.

    Yan, Matthew Shu-Ching / Matouk, Charles C / Marsden, Philip A

    Journal of applied physiology (Bethesda, Md. : 1985)

    2010  Volume 109, Issue 3, Page(s) 916–926

    Abstract: Classical models of transcription in vascular endothelial cells, specifically the cis/trans paradigm, have limitations. For instance, how does the environment have chronic effects on gene expression in endothelial cells after weeks or years? When an ... ...

    Abstract Classical models of transcription in vascular endothelial cells, specifically the cis/trans paradigm, have limitations. For instance, how does the environment have chronic effects on gene expression in endothelial cells after weeks or years? When an endothelial cell divides, how is this information transmitted to daughter cells? Epigenetics refers to chromatin-based pathways important in the regulation of gene expression and includes three distinct, but highly interrelated, mechanisms: DNA methylation, histone density and posttranslational modifications, and RNA-based mechanisms. Together they offer a newer perspective on transcriptional control paradigms in vascular endothelial cells and provide a molecular basis for understanding how the environment impacts the genome to modify disease susceptibility. This alternative viewpoint for transcriptional regulation allows a reassessment of the cis/trans model and even helps explain some of its limitations. This review provides an introduction to epigenetic concepts for vascular biologists and uses topical examples in cell biology to provide insight into how cell types or even whole organisms, such as monozygotic human twins with the same DNA sequence, can exhibit heterogeneous patterns of gene expression, phenotype, or diseases prevalence. Using endothelial nitric oxide synthase (NOS3) as an example, we examine the growing body of evidence implicating epigenetic pathways in the control of vascular endothelial gene expression in health and disease.
    MeSH term(s) Animals ; Cardiovascular Diseases/genetics ; Cardiovascular Diseases/metabolism ; Cardiovascular Diseases/physiopathology ; Cell Differentiation/genetics ; Chromatin Assembly and Disassembly ; DNA Methylation ; Endothelium, Vascular/metabolism ; Endothelium, Vascular/physiopathology ; Epigenesis, Genetic ; Gene Expression Regulation ; Histones/metabolism ; Humans ; Nitric Oxide Synthase Type III/genetics ; Nitric Oxide Synthase Type III/metabolism ; Protein Processing, Post-Translational ; RNA, Untranslated/metabolism ; Transcription, Genetic
    Chemical Substances Histones ; RNA, Untranslated ; Nitric Oxide Synthase Type III (EC 1.14.13.39)
    Language English
    Publishing date 2010-09
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 219139-8
    ISSN 1522-1601 ; 0021-8987 ; 0161-7567 ; 8750-7587
    ISSN (online) 1522-1601
    ISSN 0021-8987 ; 0161-7567 ; 8750-7587
    DOI 10.1152/japplphysiol.00131.2010
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  3. Article ; Online: A mechanistic role for DNA methylation in endothelial cell (EC)-enriched gene expression: relationship with DNA replication timing.

    Shirodkar, Apurva V / St Bernard, Rosanne / Gavryushova, Anna / Kop, Anna / Knight, Britta J / Yan, Matthew Shu-Ching / Man, Hon-Sum Jeffrey / Sud, Maneesh / Hebbel, Robert P / Oettgen, Peter / Aird, William C / Marsden, Philip A

    Blood

    2013  Volume 121, Issue 17, Page(s) 3531–3540

    Abstract: Proximal promoter DNA methylation has been shown to be important for regulating gene expression. However, its relative contribution to the cell-specific expression of endothelial cell (EC)-enriched genes has not been defined. We used methyl-DNA ... ...

    Abstract Proximal promoter DNA methylation has been shown to be important for regulating gene expression. However, its relative contribution to the cell-specific expression of endothelial cell (EC)-enriched genes has not been defined. We used methyl-DNA immunoprecipitation and bisulfite conversion to analyze the DNA methylation profile of EC-enriched genes in ECs vs nonexpressing cell types, both in vitro and in vivo. We show that prototypic EC-enriched genes exhibit functional differential patterns of DNA methylation in proximal promoter regions of most (eg, CD31, von Willebrand factor [vWF], VE-cadherin, and intercellular adhesion molecule-2), but not all (eg, VEGFR-1 and VEGFR-2), EC-enriched genes. Comparable findings were evident in cultured ECs, human blood origin ECs, and murine aortic ECs. Promoter-reporter episomal transfection assays for endothelial nitric oxide synthase, VE-cadherin, and vWF indicated functional promoter activity in cell types where the native gene was not active. Inhibition of DNA methyltransferase activity indicated important functional relevance. Importantly, profiling DNA replication timing patterns indicated that EC-enriched gene promoters with differentially methylated regions replicate early in S-phase in both expressing and nonexpressing cell types. Collectively, these studies highlight the functional importance of promoter DNA methylation in controlling vascular EC gene expression.
    MeSH term(s) Animals ; Antigens, CD/genetics ; Aorta/cytology ; Aorta/metabolism ; Cadherins/genetics ; Cattle ; Cell Adhesion Molecules/genetics ; Cells, Cultured ; Chromatin Immunoprecipitation ; DNA Methylation ; DNA Replication Timing ; Dermis/cytology ; Dermis/metabolism ; Endothelium, Vascular/cytology ; Endothelium, Vascular/metabolism ; Gene Expression Regulation ; Hepatocytes/cytology ; Hepatocytes/metabolism ; Human Umbilical Vein Endothelial Cells/cytology ; Human Umbilical Vein Endothelial Cells/metabolism ; Humans ; Keratinocytes/cytology ; Keratinocytes/metabolism ; Mice ; Muscle, Smooth, Vascular/cytology ; Muscle, Smooth, Vascular/metabolism ; Nitric Oxide Synthase Type III/genetics ; Promoter Regions, Genetic/genetics ; S Phase/physiology ; Vascular Endothelial Growth Factor Receptor-1/genetics ; Vascular Endothelial Growth Factor Receptor-2/genetics ; von Willebrand Factor/genetics
    Chemical Substances Antigens, CD ; Cadherins ; Cell Adhesion Molecules ; cadherin 5 ; von Willebrand Factor ; Nitric Oxide Synthase Type III (EC 1.14.13.39) ; Vascular Endothelial Growth Factor Receptor-1 (EC 2.7.10.1) ; Vascular Endothelial Growth Factor Receptor-2 (EC 2.7.10.1)
    Language English
    Publishing date 2013-02-28
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood-2013-01-479170
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  4. Article: DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.

    Lam, Ching-Wan / Yan, Matthew Shu-Ching / Li, Chi-Kong / Lau, Kin-Chong / Tong, Sui-Fan / Tang, Hoi-Yin

    Clinica chimica acta; international journal of clinical chemistry

    2007  Volume 376, Issue 1-2, Page(s) 250–252

    MeSH term(s) Asian Continental Ancestry Group ; Base Sequence ; DNA/genetics ; DNA Mutational Analysis ; Humans ; Molecular Sequence Data ; Mucolipidoses/diagnosis ; Mucopolysaccharidosis VI/diagnosis ; Pedigree ; Rare Diseases/diagnosis ; Rare Diseases/genetics
    Chemical Substances DNA (9007-49-2)
    Language English
    Publishing date 2007-02
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 80228-1
    ISSN 1873-3492 ; 0009-8981
    ISSN (online) 1873-3492
    ISSN 0009-8981
    DOI 10.1016/j.cca.2006.09.004
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  5. Article: Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b.

    Lam, Ching-Wan / Yan, Matthew Shu-Ching / Law, Tat-Yin / Tong, Sui-Fan / Orrico, A / Galli, L / Sorrentino, V / Benedetti, A

    Clinica chimica acta; international journal of clinical chemistry

    2006  Volume 374, Issue 1-2, Page(s) 147–148

    MeSH term(s) Alternative Splicing/genetics ; Antiporters/genetics ; Base Sequence ; Glycogen Storage Disease Type I/genetics ; Humans ; Italy ; Molecular Sequence Data ; Monosaccharide Transport Proteins/genetics ; Mutation ; Polymerase Chain Reaction
    Chemical Substances Antiporters ; Monosaccharide Transport Proteins ; SLC37A4 protein, human
    Language English
    Publishing date 2006-12
    Publishing country Netherlands
    Document type Letter
    ZDB-ID 80228-1
    ISSN 1873-3492 ; 0009-8981
    ISSN (online) 1873-3492
    ISSN 0009-8981
    DOI 10.1016/j.cca.2006.04.003
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  6. Article: A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.

    Lam, Ching-Wan / Cheung, Ka-Ming / Tsui, Man-Shan / Yan, Matthew Shu-Ching / Lee, Ching-Yin / Tong, Sui-Fan

    Journal of hepatology

    2006  Volume 44, Issue 1, Page(s) 240–242

    Abstract: We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the ... ...

    Abstract We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2.
    MeSH term(s) ATP Binding Cassette Subfamily B Member 11 ; ATP-Binding Cassette Transporters/genetics ; Adolescent ; Cholestasis, Intrahepatic/genetics ; Cholestasis, Intrahepatic/metabolism ; DNA/genetics ; Disease Progression ; Humans ; Male ; Mutation ; Phenotype ; Polymerase Chain Reaction
    Chemical Substances ABCB11 protein, human ; ATP Binding Cassette Subfamily B Member 11 ; DNA (9007-49-2)
    Language English
    Publishing date 2006-01
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 605953-3
    ISSN 1600-0641 ; 0168-8278
    ISSN (online) 1600-0641
    ISSN 0168-8278
    DOI 10.1016/j.jhep.2005.09.013
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