The role of mutations in the SCN5A gene in cardiomyopathies, and MORE || Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)



June 30 - July 7, 2016

CARDIOMYOPATHY

Last Updated: Jun 30, 2016

• The role of mutations in the SCN5A gene in cardiomyopathies.
  Zaklyazminskaya Elena et al. Biochimica et biophysica acta 2016 Jul 1863(7 Pt B) 1799-805
• APOE and MS4A6A interact with GnRH signaling in Alzheimer's disease: Enrichment of epistatic effects.
  Cáceres Alejandro, et al. Alzheimer's & dementia : the journal of the Alzheimer's Association 2016 6
• Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant.
  Svensson Anneli, et al. American journal of cardiovascular disease 2016 0 (2) 55-65
• These sisters are surviving a dangerous heart ailment together
  Washington Post, June 27, 2016
• Cardiomyopathy represents a collection of diverse conditions of the heart muscle 
• The Rationale and Timing of Molecular Genetic Testing for Dilated Cardiomyopathy.
  Morales Ana et al. The Canadian journal of cardiology 2015 Nov (11) 1309-12
• A Genetic Biomarker of Oxidative Stress, the Paraoxonase-1 Q192R Gene Variant, Associates with Cardiomyopathy in CKD: A Longitudinal Study.
  Dounousi E, et al. Oxidative medicine and cellular longevity 2016 0 1507270
• Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathy.
  Tarkiainen Mika, et al. Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2016 0 (1) 33
• Surveillance after cardiac arrest in patients with Brugada syndrome without an implantable defibrillator: An alarm effect of the previous syncope.
  Calvo David, et al. International journal of cardiology 2016 5 69-74
• [The pathogenic gene screening in a cardiomyopathy pedigree of Yunnan province].
  Xiang H, et al. Zhonghua xin xue guan bing za zhi 2016 5 (5) 416-20
• Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
  Pena Loren D M, et al. Molecular genetics and metabolism 2016 5
• Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.
  Vrijenhoek Terry et al. European journal of human genetics : EJHG 2015 Sep 23(9) 1142-50
• Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today.
  Kobayashi Michio et al. Rinsho shinkeigaku = Clinical neurology 2016 May
• Common miR-590 Variant rs6971711 Present Only in African Americans Reduces miR-590 Biogenesis.
  Lin Xiaoping, et al. PloS one 2016 0 (5) e0156065
• Genomic African and Native American Ancestry and Chagas Disease: The Bambui (Brazil) Epigen Cohort Study of Aging.
  Lima-Costa M Fernanda, et al. PLoS neglected tropical diseases 2016 5 (5) e0004724

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB

Public Health Genomics Knowledge Base (v1.0)