Table of Content

Open Access Original Research

Molecular Cytogenetic Characterization of Two Murine Colorectal Cancer Cell Lines

Received: 30 July 2018;  Published: 19 September 2018;  doi: 10.21926/obm.genet.1803037


(1) Background: Colorectal cancer (CRC) is the third most common cancer in human and the fourth leading cause of adult man’s death. Murine tumor cell lines have been established as a model system for CRC, but their cytogenetic properties have so far been only poorly understood. (2) Methods: The two [...]

420 2727

Open Access Review

Histone O-GlcNAcylation and Potential Biological Functions

Received: 05 July 2018;  Published: 17 September 2018;  doi: 10.21926/obm.genet.1803036


Histone modifications play an important role in the control of all DNA-based processes by altering the structure and function of chromatin. An O-linked N-acetylglucosamine (O-GlcNAc) modification is a type of post-translational modification of proteins, and gets attached to serine (Ser)/threonine (T [...]

437 2207

Open Access Case Report

Identification of a Small Supernumerary Marker Chromosome Involving 11p14.1q12.1 in a Prenatal Case: Clinical and Molecular Characterization

Received: 30 May 2018;  Published: 16 September 2018;  doi: 10.21926/obm.genet.1803035


Background: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, and their characterization exclusively by banding cytogenetics is almost impossible. Multicolor fluorescence in situ hybridization approaches for their characterization are effective but expensive and ti [...]

339 1871

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


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 [...]

349 1779

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


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 [...]

352 1719

Open Access Review

Epigenetics of IgA Nephropathy: A Brief Review

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


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 1711

Open Access Review

Uniparental Disomy and Imprinting Disorders

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


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 [...]

527 4358

Open Access Review

Prospects for Cure in Wilson Disease

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


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 [...]

368 2300

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


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 [...]

380 2186

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


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 1872