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 ...

In the framework of this study, genome wide linkage scans of the following five inherited disorders were evaluated with parametric programs and suggestive loci were subsequently investigated with fine-mapping studies and ...

FGF signal transduction pathway activates a cascade of kinase and phosphatase dependent phosphorylation and dephosphorylation events. The pathway is subject to tight control mechanisms through negative feedback exerted by ...

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 ...

The olfactory epithelium (OE) has a high regenerative capacity that ensures the lifelong replacement of olfactory sensory neurons (OSNs). Different modes of neurogen esis originate from the selective activity of two distinct ...

Inherited peripheral neuropathies are a group of genetic disorders of the periph eral nervous system. The most common type is called Charcot-Marie-Tooth (CMT) disease that constitutes an interesting research focus due to ...

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 ...

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 ...

Hereditary Spastic Paraplegia (HSP), characterized by lower limb spasticity and progressive weakness, is a group of inherited neurodegenerative disorders. 47 of the 63 genes responsible for HSP, have been associated with ...

As a result of high calorie diet and low physical activity, obesity has become widespread worldwide in the last two decades. Obesity, which is a risk factor for many diseases including diabetes, hypertension, and fatty ...