Diabetes mellitus is a chronic disease often accompanied by diabetic retinopathy (DR), one of the most common complications. DR an eye condition that causes vision deficiency and leads to blindness. develops when blood vessels damage retina, light-sensitive tissue at back eye. Before changes in retinal vessel permeability, different molecular anatomical modifications take place including early ...

Background Methods for haplotyping and DNA copynumber typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA of a single cell by microarray or next-generation sequencing, a whole-genome amplification (WGA) process is required, but it substantially distorts the frequency and composition of the cell’s alleles. As a conseque...

Experimental autoimmune encephalomyelitis (EAE) is a polygenic chronic inflammatory demyelinating disease of the nervous system, commonly used as an animal model of multiple sclerosis. Previous studies have identified multiple quantitative trait loci (QTLs) controlling different aspects of disease pathogenesis. However, direct genetic control of cortical motor evoked potentials (cMEPs) as a str...

Neurodegeneration with brain iron accumulation (NBIA) is a rare set of inherited neurodegenerative disorders with abnormal accumulation of iron in basal ganglia. It is a clinically and genetically heterogeneous disorder that is characterized by movement disorders, dystonia, dysarthria, Parkinsonism, intellectual disability, and spasticity. The age at onset varies from childhood to adulthood and...

We demonstrate that familial hypertrophic cardiomyopathy (FHC), an autosomal dominant disorder of heart muscle, is a genetically heterogeneous disease. The locus responsible for FHC in members of one large kindred was recently mapped to chromosome 14q11-12 (FHC-1). We have characterized three additional unrelated families in which the gene for FHC segregates as an autosomal dominant trait to de...

BackgroundHereditary angioedema (HAE) is a potentially fatal disorder resulting in recurrent attacks of severe swelling. It may be associated with genetic deficiency functional C1 inhibitor or normal (HAEnCI). In families HAEnCI, HAE-linked mutations the F12, PLG, KNG1, ANGPT1, MYOF genes have been identified. many HAEnCI cause disease currently unknown.ObjectiveThe aim this study was to identi...

3. Korenke GC, Roth C, Krasemann E, Hufner M, Hunneman DH, Hanefeld F. Variability in endocrinological dysfunction in 55 patients with X-linked adrenoleukodystrophy: clinical laboratory and genetic findings. Eur J Endocrinol 1997; 137: 40-47. 4. Laureti S, Casucci G, Santerusanio F, Angeletti G, Aubourg P, Brunetti P. X linked adrenoleukodystrophy is a frequent cause of idiopathic Addison’s dis...

multiple sclerosis (ms) is a demyelinating disease of the central nervous system,with unknown etiology in which both genetic and environmental factors are thought to be involved. the hla system provides a set of genetic markers which lend themselves to systematic study. the disease also has variable clinical manifestations, ranging from a relapsing-remitting course to a chronic progressive dise...