-
Články
- Časopisy
- Kurzy
- Témy
- Kongresy
- Videa
- Podcasty
The Williams-Beuren Syndrome—A Window into Genetic Variants Leading to the Development of Cardiovascular Disease
article has not abstract
Vyšlo v časopise: The Williams-Beuren Syndrome—A Window into Genetic Variants Leading to the Development of Cardiovascular Disease. PLoS Genet 8(2): e32767. doi:10.1371/journal.pgen.1002479
Kategorie: Perspective
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1002479Souhrn
article has not abstract
Zdroje
1. PoberBR 2010 Williams-Beuren syndrome. N Engl J Med 362 239 252
2. PoberBRJohnsonMUrbanZ 2008 Mechanisms and treatment of cardiovascular disease in Williams-Beuren Syndrome. J Clin Invest 118 1606 1615
3. Del PasquaARinelliGToscanoAIacobelliRDigilioC 2009 New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren Syndrome. Cardiol Young 19 563 567
4. GoergenCJLiHHFranckeUTaylorCA 2011 Induced chromosome deletion in a Williams-Beuren Syndrome mouse model causes cardiovascular sbnormalities. J Vasc Res 48 119 129
5. Del CampoMAntonellAMaganoLFMuñozFJFloresR 2006 Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet 78 533 542
6. LandmesserUSpiekermannSDikalovSTatgeHWilkeR 2002 Vascular oxidative stress and endothelial dysfunction in patients with chronic heart failure: role of xanthine-oxidase and extracellular superoxide dismutase. Circulation 106 3073 3078
7. CampuzanoVSeguraMTerradoVSánchez-RodríguezCCoustestM 2012 Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren syndrome. PLoS Genet 8 e1002458 doi:10.1371/journal.pgen.1002458
8. DikalovaAEBikineyevaATBudzynKNazarewiczRRMcCannL 2010 Therapeutic targeting of mitochondrial superoxide in hypertension. Circ Res 107 106 116
9. AdamsGNLaRuschGAStavrouEZhouYNiemanMT 2011 Murine prolylcarboxypeptidase depletion induces vascular dysfunction with hypertension and faster arterial thrombosis. Blood 117 3929 3937
10. Kris-EtheronPMLichtensteinAHHowardBVSteinbergDWiztumJL 2004 Antioxidant vitamin supplements and cardiovascular disease. Circulation 110 637 641
11. SimonsenURodriguez-RodriguezRDalsgaardTBuusNHStankeviciusE 2009 Novel approaches to improving endothelium-dependent nitric oxide-mediated vasodilation. Pharmacol Rep 61 105 115
12. HoffmannDSWeydertCJLazartiguesEKutschekeWJKienzleMF 2008 Chronic tempol prevents hypertension, proteinuria, and poor feto-placental outcomes in BPH/5 mouse model of preeclampsia. Hypertension 51 1058 1065
13. HeumüllerSWindSBarbosa-SicardESchmidtHHBusseR 2008 Apocynin is not an inhibitor of vascular NADPH oxidases but an antioxidant. Hypertension 51 211 217
14. StefanskaJSokolowskaMSarniakAWlodarczykADoniecZ 2010 Apocynin decreases hydrogen peroxide and nitrate concentrations in exhaled breath in healthy subjects. Pulm Pharmacol Ther 23 48 54
15. TrueALOliveMBoehmMSanHWestrickRJ 2007 Heme oxygenase-1 deficiency accelerates formation of arterial thrombosis through oxidative damage to the endothelium, which is rescued by inhaled carbon monoxide. Circ Res 101 893 901
16. GlaserCBMorserJClarkeJHBlaskoEMcLeanK 1992 Oxidation of a specific methionine in thrombomodulin by activated neutrophil products blocks cofactor activity. J Clin Invest 90 2565 2573
Štítky
Genetika Reprodukčná medicína
Článok vyšiel v časopisePLOS Genetics
Najčítanejšie tento týždeň
2012 Číslo 2- Gynekologové a odborníci na reprodukční medicínu se sejdou na prvním virtuálním summitu
- Je „freeze-all“ pro všechny? Odborníci na fertilitu diskutovali na virtuálním summitu
-
Všetky články tohto čísla
- Upsetting the Dogma: Germline Selection in Human Males
- A Strong Deletion Bias in Nonallelic Gene Conversion
- Positive Selection for New Disease Mutations in the Human Germline: Evidence from the Heritable Cancer Syndrome Multiple Endocrine Neoplasia Type 2B
- Genome-Wide Association Study in East Asians Identifies Novel Susceptibility Loci for Breast Cancer
- Mixed Effects Modeling of Proliferation Rates in Cell-Based Models: Consequence for Pharmacogenomics and Cancer
- Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome
- Genome-Wide Association Study Identifies Chromosome 10q24.32 Variants Associated with Arsenic Metabolism and Toxicity Phenotypes in Bangladesh
- Structural Basis of Transcriptional Gene Silencing Mediated by MOM1
- Genomic Restructuring in the Tasmanian Devil Facial Tumour: Chromosome Painting and Gene Mapping Provide Clues to Evolution of a Transmissible Tumour
- Genome-Wide Association Study Identifies Novel Loci Associated with Circulating Phospho- and Sphingolipid Concentrations
- Contrasting Properties of Gene-Specific Regulatory, Coding, and Copy Number Mutations in : Frequency, Effects, and Dominance
- The Origin and Nature of Tightly Clustered Deletions in Precursor B-Cell Acute Lymphoblastic Leukemia Support a Model of Multiclonal Evolution
- Ultrafast Evolution and Loss of CRISPRs Following a Host Shift in a Novel Wildlife Pathogen,
- Phosphorylation of Chromosome Core Components May Serve as Axis Marks for the Status of Chromosomal Events during Mammalian Meiosis
- Psoriasis Patients Are Enriched for Genetic Variants That Protect against HIV-1 Disease
- A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity
- The Mitochondrial Chaperone Protein TRAP1 Mitigates α-Synuclein Toxicity
- Homeobox Genes Critically Regulate Embryo Implantation by Controlling Paracrine Signaling between Uterine Stroma and Epithelium
- Developmental Transcriptional Networks Are Required to Maintain Neuronal Subtype Identity in the Mature Nervous System
- Down-Regulating Sphingolipid Synthesis Increases Yeast Lifespan
- Gene Expression and Stress Response Mediated by the Epigenetic Regulation of a Transposable Element Small RNA
- Loss of Tgif Function Causes Holoprosencephaly by Disrupting the Shh Signaling Pathway
- Sequestration of Highly Expressed mRNAs in Cytoplasmic Granules, P-Bodies, and Stress Granules Enhances Cell Viability
- Discovery of a Modified Tetrapolar Sexual Cycle in and the Evolution of in the Species Complex
- The Role of Glypicans in Wnt Inhibitory Factor-1 Activity and the Structural Basis of Wif1's Effects on Wnt and Hedgehog Signaling
- Nondisjunction of a Single Chromosome Leads to Breakage and Activation of DNA Damage Checkpoint in G2
- A Regulatory Network for Coordinated Flower Maturation
- Coexpression Network Analysis in Abdominal and Gluteal Adipose Tissue Reveals Regulatory Genetic Loci for Metabolic Syndrome and Related Phenotypes
- Diced Triplets Expose Neurons to RISC
- The Williams-Beuren Syndrome—A Window into Genetic Variants Leading to the Development of Cardiovascular Disease
- The Empirical Power of Rare Variant Association Methods: Results from Sanger Sequencing in 1,998 Individuals
- Systematic Detection of Epistatic Interactions Based on Allele Pair Frequencies
- Familial Identification: Population Structure and Relationship Distinguishability
- Raf1 Is a DCAF for the Rik1 DDB1-Like Protein and Has Separable Roles in siRNA Generation and Chromatin Modification
- Loss of Function of the Cik1/Kar3 Motor Complex Results in Chromosomes with Syntelic Attachment That Are Sensed by the Tension Checkpoint
- Computational Prediction and Molecular Characterization of an Oomycete Effector and the Cognate Resistance Gene
- The Dynamics and Prognostic Potential of DNA Methylation Changes at Stem Cell Gene Loci in Women's Cancer
- GTPase Activity and Neuronal Toxicity of Parkinson's Disease–Associated LRRK2 Is Regulated by ArfGAP1
- Evaluation of the Role of Functional Constraints on the Integrity of an Ultraconserved Region in the Genus
- Neurophysiological Defects and Neuronal Gene Deregulation in Mutants
- Genetic and Functional Analyses of Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
- Negative Supercoiling Creates Single-Stranded Patches of DNA That Are Substrates for AID–Mediated Mutagenesis
- Rewiring of PDZ Domain-Ligand Interaction Network Contributed to Eukaryotic Evolution
- The Eph Receptor Activates NCK and N-WASP, and Inhibits Ena/VASP to Regulate Growth Cone Dynamics during Axon Guidance
- Repression of a Potassium Channel by Nuclear Hormone Receptor and TGF-β Signaling Modulates Insulin Signaling in
- The Retrohoming of Linear Group II Intron RNAs in Occurs by Both DNA Ligase 4–Dependent and –Independent Mechanisms
- Cell Lineage Analysis of the Mammalian Female Germline
- Association of a Functional Variant in the Wnt Co-Receptor with Early Onset Ileal Crohn's Disease
- PLOS Genetics
- Archív čísel
- Aktuálne číslo
- Informácie o časopise
Najčítanejšie v tomto čísle- Gene Expression and Stress Response Mediated by the Epigenetic Regulation of a Transposable Element Small RNA
- Contrasting Properties of Gene-Specific Regulatory, Coding, and Copy Number Mutations in : Frequency, Effects, and Dominance
- Homeobox Genes Critically Regulate Embryo Implantation by Controlling Paracrine Signaling between Uterine Stroma and Epithelium
- Nondisjunction of a Single Chromosome Leads to Breakage and Activation of DNA Damage Checkpoint in G2
Prihlásenie#ADS_BOTTOM_SCRIPTS#Zabudnuté hesloZadajte e-mailovú adresu, s ktorou ste vytvárali účet. Budú Vám na ňu zasielané informácie k nastaveniu nového hesla.
- Časopisy