Idiopathic absence epilepsies (IAE) are complex disorders mainly caused by genetic factors. Two major whole-genome linkage studies performed on many IAE samples pointed to chromosome 2q36 as a susceptibility locus for ...

The present study illustrates the results of years of research on different aspects of beta-thalassemia in Turkey. Methods to detect the C-T change at position -158 upstream of the Gy-globin gene and the (AT)xTy motif 5' ...

G protein coupled receptors are a large family of cell surface receptors and are involved in a plethora of physiological functions from vision to various neuronal func tions. They have been a major target in the pharmaceutical ...

The DNA polymerase I genes of seven newly identified Geobacillus species within the family Bacillaceae, were cloned, sequenced and overexpressed in Escherichia coli. The polA gene of these species encodes DNA polymerase I ...

Single cell molecular biology, a relatively new scientific branch, is promising to study unique questions and leading to novel applications in biology and medicine. Single cell studies have been challenged by difficulties ...

NLRP7 is a novel protein about which we have limited information. To date, mutations in NLRP7 gene have been associated with recurrent Complete Hydatidiform Mole (RCHM) and NLRP7 is accepted to be the first causative gene ...

The Drosophila eye is composed of 800 ommatidial units, each containing eight photoreceptors (PR). The outer PRs R1-R6 are responsible for motion detection, while the inner PRs R7 and R8 and are responsible for colour ...

Epidemiological studies provide the correlative data to understand the etiology of human inherited diseases and develop efficient genetic testing assays. Additionally, the accumulated data of genetic and epigenetic findings, ...

Rare diseases (RDs) are a large and diverse group of disorders and defined by low prevalence, in other words, it is any disease that affects a small percentage of the population. According to OMIM and Orphanet, ~7000 ...

Pelizaeus-Merzbacher disease (PMD) is a rare inherited leukodystrophy with Xlinked recessive segregation. About 80 per cent of patients with PMD have been associated with mutations of the PLP1 gene on Xq21.3-Xq22 which ...