Read more about the article Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
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Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Abstract The purpose of this study was to identify and determine the frequencies of rare CYP21A2 gene mutations in patients with 21-hydroxylase deficiency (21-OHD) in the Cypriot population. Direct sequencing…

Continue ReadingRare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.
Read more about the article Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
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Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.

Abstract Familial amyloidotic polyneuropathy (FAP) TTR Val30Met is a lethal autosomal dominant sensorimotor and autonomic neuropathy due to a substitution of methionine for valine at position 30 of the transthyretin…

Continue ReadingComplement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
Read more about the article A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
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A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.

Abstract Mutations in IFNGR1, IFNGR2, IL12RB1, IL12B, STAT1 and NEMO result in a common clinical phenotype known as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency is…

Continue ReadingA 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants.
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 An investigation of breast cancer risk factors in Cyprus: a case control study.
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An investigation of breast cancer risk factors in Cyprus: a case control study.

Abstract Breast cancer is the most common form of malignancy affecting women worldwide. It is also the leading cancer in females in Cyprus, with approximately 400 new cases diagnosed annually.…

Continue ReadingAn investigation of breast cancer risk factors in Cyprus: a case control study.
Read more about the article Multiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH).
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Multiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH).

Abstract Genomic imbalances in locus copy-number are highly significant for the diagnosis and prognosis of cancer. Rapidly progressing DNA microarray technologies detect such pathogenic copy-number changes in the genome with…

Continue ReadingMultiplex Amplifiable Probe Hybridization (MAPH) methodology as an alternative to comparative genomic hybridization (CGH).
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.