Read more about the article Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
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Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.

Abstract Complement is a key component of the innate immune system, and variation in genes that regulate its activation is associated with renal and other disease. We aimed to establish…

Continue ReadingIdentification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis.
Read more about the article Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.
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Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.

Abstract The X-linked demyelinating/type I Charcot-Marie-Tooth neuropathy (CMT1X) is an inherited peripheral neuropathy caused by mutations in GJB1, the gene that encodes the gap junction protein connexin32. Connexin32 is expressed…

Continue ReadingAxonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy.
Read more about the article The application of ribozymes and DNAzymes in muscle and brain.
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The application of ribozymes and DNAzymes in muscle and brain.

Abstract The discovery of catalytic nucleic acids (CNAs) has provided scientists with valuable tools for the identification of new therapies for several untreated diseases through down regulation or modulation of…

Continue ReadingThe application of ribozymes and DNAzymes in muscle and brain.
Read more about the article ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
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ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.

Abstract The detection and diagnosis of β-thalassaemia for populations with molecular heterogeneity, or diverse ethnic groups, has increased the need for the development of an array high-throughput diagnostic tool that…

Continue ReadingThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia.
Read more about the article Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.
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Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.

Abstract DM1 (myotonic dystrophy type I) is a common form of muscular dystrophy that affects mainly adults. It is a disease that belongs to the group of defective RNA export…

Continue ReadingTackling the pathogenesis of RNA nuclear retention in myotonic dystrophy.
Read more about the article Molecular mechanisms of gap junction mutations in myelinating cells.
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Molecular mechanisms of gap junction mutations in myelinating cells.

Abstract There is an emerging group of neurological disorders that result from genetic mutations affecting gap junction proteins in myelinating cells. The X-linked form of Charcot Marie Tooth disease (CMT1X)…

Continue ReadingMolecular mechanisms of gap junction mutations in myelinating cells.
Read more about the article Characterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.
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Characterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.

Abstract Phleboviruses cause sandfly fever but isolates are rare. To analyse samples from concurrent outbreaks of suspected sandfly fever in the Mediterranean provinces of Adana, Izmir and the central province…

Continue ReadingCharacterization of a sandfly fever Sicilian virus isolated during a sandfly fever epidemic in Turkey.
Read more about the article Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
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Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.

Abstract Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. CMT is classified into 2 main subgroups: a demyelinating and an axonal type. Further subdivisions within these 2 main categories…

Continue ReadingCharcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics.
Read more about the article New insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.
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New insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.

Abstract Mouse trophoblast stem (TS) cells represent a unique in vitro system that provides an unlimited supply of TS cells for the study of trophoblast differentiation and TS cell self-renewal.…

Continue ReadingNew insights for Ets2 function in trophoblast using lentivirus-mediated gene knockdown in trophoblast stem cells.
Read more about the article Brainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.
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Brainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.

Abstract Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, with epileptic seizures sometimes observed in the same patients. In this study, we used evoked responses…

Continue ReadingBrainstem lesions may be important in the development of epilepsy in multiple sclerosis patients: an evoked potential study.