In order to increase significantly the discriminatory potential of Y-STR systems available to the forensic community, we have developed and validated a 21-locus Y-STR multiplex system. Since the system was designed specifically to augment the European Y chromosome typing community's "minimal haplotype" Y-STR set (MHL) for forensic casework, it contains a novel constellation of markers not conta...

Phonological dyslexics (Ph-DYS) are characterized by a phonological deficit, while surface dyslexics (S-DYS) are characterized by an orthographic deficit. Four issues were addressed in this study. First, we determined the proportion of Ph-DYS and S-DYS in a population of French dyslexics by applying Castles and Coltheart's (1993) regression method to two previously unused diagnostic measures: p...

The whole-cell patch-clamp technique was used to study voltage-dependent calcium currents in primary cultures of myotubes and in freshly dissociated skeletal muscle from normal and dysgenic mice. In addition to the transient, dihydropyridine (DHP)-insensitive calcium current previously described, a maintained DHP-sensitive calcium current was found in dysgenic skeletal muscle. This current, her...

BACKGROUND Dystonias (Dys) represent the third most common movement disorder after essential tremor (ET) and Parkinson's disease (PD). While some pathogenetic mechanisms and genetic causes of Dys have been identified, little is known about their neuropathologic features. Previous neuropathologic studies have reported generically defined neuronal loss in various cerebral regions of Dys brains, m...

Mutations of the Caenorhabditis elegans dystrophin/utrophin-like dys-1 gene lead to hyperactivity and hypercontraction of the animals. In addition dys-1 mutants are hypersensitive to acetylcholine and acetylcholinesterase inhibitors. We investigated this phenotype further by assaying acetylcholinesterase activity. Total extracts from three different dys-1 alleles showed significantly less acety...

AIMS In our study, we investigated the impact of papillary muscle systolic dyssynchrony (DYS-PAP) and the configuration of mitral leaflets in the prediction of significant functional mitral regurgitation (MR) with two-dimensional (2D) speckle-tracking strain analysis in non-ischaemic dilated cardiomyopathy (DCM) patients with sinus rhythm. METHODS Thirty-six non-ischaemic DCM patients (left v...

BACKGROUND Dystrophin is the product of the gene that is mutated in Duchenne muscular dystrophy (DMD), a progressive neuromuscular disease for which no treatment is available. Mice carrying a mutation in the gene for dystrophin (mdx mice) display only a mild phenotype, but it is aggravated when combined with a mutation in the MyoD gene. The nematode worm Caenorhabditis elegans has a dystrophin ...