2 results for “Prader-Willi and Angelman Syndromes”

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Research ArticleOpen accessIn the keywordsUNUSUAL SPECTRUM OF GENETIC PATHOLOGIES AND NOVEL MUTATIONS IN PWS AND AS PATIENTS DETECTED BY A WIDE CLUSTER OF METHODSLivia Kotysova, Robert Petrovic, Jan ChandogaPrader-Willi and Angelman syndromes are clinically distinct neurodevelopmental genetic disorders that map to 15q11.2-q13 locus. The common phenotypes are attributable to loss of expression of parentally specific imprinted genes inside this region, where the gene function is dependent on parental origin. Initial diagnosis was proved for the years by methylation pattern analyses of the SNRPN exon 1/promoter region within the … …OnLine Journal of Biological Sciences, Vol. 14, Issue 3 · 12 Nov 2014 · 7,006 accessesView PDF Cite

Research ArticleOpen accessIn the keywordsGENE IMPRINTING: ENGRAVING THE PATHOGENESIS OF HERIDETARY DISEASESSandeep Satapathy, Roshan Kumar Singh, Harikrishnan RajendranGene imprinting has conduited the scope of our understanding of phenotypic expression and its corelation with constituent genotype. It is an epigenetic process that involves DNA methylation and histone modulation to attain monoallelic gene expression without altering the genetic sequences. A distinctive model of non-mendelian genetics, imprinting extends the control over expression of traits and selection of the allele that … …American Journal of Immunology, Vol. 10, Issue 1 · 12 Feb 2014 · 7,682 accessesView PDF Cite