Journal of

Genetics and Genome ResearchISSN: 2378-3648


 Open Access DOI:10.23937/2378-3648/1410025

Sedaghatian-Type Spondylometaphyseal Dysplasia: A Case of Rapid Demise with Evidence of Myocardial Injury

Mehmet Sah Ipek and Alper Akin

Article Type: Case Report | First Published: June 02, 2016

Sedaghatian-type spondylometaphyseal dysplasia (SSMD) is a lethal neonatal form of spondylometaphyseal dysplasias that is reported rarely. The case of a female infant demonstrating a clinical phenotype consistent with a diagnosis of SSMD was presented. She died with acute evidence of myocardial injury. In SSMD, certain organ systems including the central nervous, cardiac, and skeletal systems, are clearly involved. Although the exact cause of the uniform fatality remains unclear, cardiac involve...

 Open Access DOI:10.23937/2378-3648/1410024

Susceptibility of Patients with Manganese Superoxide Dismutase Ala16val Genetic Polymorphism to Type 2 Diabetes Mellitus and its Complications in a Sample of Lebanese Population

Abir M Zahreddine, Mohamed E Moustafa and Hala A Chamieh

Article Type: Original Article | First Published: May 24, 2016

Oxidative stress has been frequently associated with the development of type 2 diabetes mellitus. Manganese superoxide dismutase (MnSOD) is one of the most important enzymes responsible for the defense against oxidative damage in the mitochondria. A polymorphism in the second exon of the MnSOD at position 16 that changes Ala into Val, induces changes in the structural conformation and mitochondrial transport of MnSOD. This polymorphism affects the scavenger activity of the enzyme and generates h...

 Open Access DOI:10.23937/2378-3648/1410023

A Perspective on the Algorithms Predicting and Evaluating the RNA Secondary Structure

Giulia Fiscon, Giulio Iannello and Paola Paci

Article Type: Review Article | First Published: May 20, 2016

Investigating the RNA structure contributes greatly to understand RNA roles in cellular processes. Indeed, functional RNAs show specific instrumental sub-structures for their interaction with other molecules. The RNA structure prediction will provide fundamental insights into developing hypothesis connecting function to structure, but it is a challenging and unsolved task yet. We aim at discussing the current status of the widespread RNA folding tools and comparing their performances on RNA fami...

 Open Access DOI:10.23937/2378-3648/1410022

Microevolutionary History of Helicobacter Pylori During Infection: A Review

Mendoza-Elizalde S, Olivares-Cervantes AL, Zuniga G, Valencia-Mayoral P, Vigueras-Galindo JC and Velazquez-Guadarrama N

Article Type: Review Article | First Published: April 13, 2016

Helicobacter pylori is a bacterium that has evolved with humans, is transmitted from person to person and persistently colonizes the stomach. During its long coexistence with humans, H. Pylori has developed complex strategies to limit the degree and extent of inflammation and damage to the gastric mucosa. It is capable of altering the physiology and immune response of the host, thereby allowing it to persist throughout life. Infection with H. pylori has been linked to such diseases as severe gas...

Volume 3
Issue 1