Table of Content

Open Access Editorial

Introduction to the Special Issue on Next Generation Sequencing: Short General Overview of NGS

Received: 14 August 2018;  Published: 13 September 2018;  doi: 10.21926/obm.genet.1803034

Abstract

he publication of the double helix DNA structure in 1953 [1] was the kick-off of numerous efforts to understand and unravel the complexity of the human genome. It took 50 years until the human genome project, based on Sanger sequencing, was completed in 2003 [2]. This was followed by what may be con [...]

347 1769

Open Access Case Report

sSMC Characterization in a Male with Turner Syndrome Stigmata

Received: 23 March 2018;  Published: 07 September 2018;  doi: 10.21926/obm.genet.1803033

Abstract

Background: Small supernumerary marker chromosomes (sSMC) are rare cytogenetic findings in general, but especially in Turner syndrome so called sSMCT in a karyotype 46,X,mar are even more scarce. According to the literature sSMCT are derived from one of the Y-chromosome in ~70% of the cases. Thus, t [...]

349 1714

Open Access Review

Epigenetics of IgA Nephropathy: A Brief Review

Received: 27 May 2018;  Published: 06 September 2018;  doi: 10.21926/obm.genet.1803032

Abstract

Immunoglobin A Nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Its development is characterized by the deposition of immune complexes that consist of abnormally galactozylated IgA1 molecules and IgG or IgA autoantibodies in the mesangium and the subsequent induction of re [...]

347 1707

Open Access Review

Uniparental Disomy and Imprinting Disorders

Received: 28 June 2018;  Published: 30 August 2018;  doi: 10.21926/obm.genet.1803031

Abstract

Uniparental disomy (UPD), the inheritance of both homologues of a chromosome from only one parent, has been reported for nearly all human chromosomes. Depending on its mode of formation and time of occurrence, UPD can be present in all cells of an organism, or restricted to some cell lines as a mosa [...]

525 4348

Open Access Review

Prospects for Cure in Wilson Disease

Received: 18 July 2018;  Published: 22 August 2018;  doi: 10.21926/obm.genet.1803030

Abstract

Wilson Disease is a monogenetic disorder of copper metabolism affecting the ATP7B gene. Treatment is lifelong and focuses on removal of copper to arrest disease progression and improve the clinical manifestations of copper toxicity. Currently the only cure is replacement of ATP7B in hepatocytes by l [...]

367 2286

Open Access Original Research

New Insights into the Epigenetic Activities of Natural Compounds

Received: 30 May 2018;  Published: 16 August 2018;  doi: 10.21926/obm.genet.1803029

Abstract

Background: With their varied pharmacophores, natural products are interesting tools to open the drug discovery pipeline. Several plant secondary metabolites belong to our diet and have conflictual documented epigenetic activities which need clarification. Methods: Seventy-one different natural pro [...]

377 2178

Open Access Opinion

Runs of Homozygosity and Epigenetic Deregulation of Genomic Imprinting

Received: 29 May 2018;  Published: 15 August 2018;  doi: 10.21926/obm.genet.1803028

Abstract

Runs of homozygosity (ROH) are uninterrupted continuous regions within the genome exhibiting allelic homozygosity (identical alleles are inherited from each parent). Genome-wide analyses consistently evidence that megabase-scale ROH are ubiquitous in humans reflecting individual demographic history. [...]

325 1871

Open Access Original Research

Newborn Screening Programs: Next Generation Ethical and Social Issues

Received: 19 October 2017;  Published: 14 August 2018;  doi: 10.21926/obm.genet.1803027

Abstract

Although newborn screening programs are among the ten most important public health achievements, a number of ethical, legal and social issues have emerged. Notably, the number of diseases screened; consent and notification processes; sample, retention; and potentially secondary use of residual blood [...]

375 2150

Open Access Original Research

Epigenetic Symmetry of DLGAP2: Pre-Implantation Maternal Methylation Switches to a Random Monoallelic Profile in Somatic Tissues

Received: 29 May 2018;  Published: 29 July 2018;  doi: 10.21926/obm.genet.1803026

Abstract

- Background Symmetric DNA methylation profiles of autosomal genes is associated with equal expression from both alleles. Genes with an allelic imbalance or monoallelic expression are associated with discrete intervals of allele-specific methylation (ASM), as highlighted by genomic imprinting, X-chr [...]

388 2041

Open Access Review

Experimental DNA- or RNA-Directed Therapies for Trinucleotide Repeat Disease

Received: 17 April 2018;  Published: 27 July 2018;  doi: 10.21926/obm.genet.1803025

Abstract

Dynamic mutations involve expansion of the number of repeat units consisting of three or more nucleotides in tandem (i.e., adjacent to one another), present in a gene or in its neighborhood. Depending on expansion size, unaffected individuals can be carriers of a pre-mutation. Instability of triplet [...]

380 2094

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