Read more about the article A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
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A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.

Abstract We describe a Cypriot family in which some family members presented with episodes of pressure palsies, while other family members had a slowly progressive chronic polyneuropathy typical of the…

Continue ReadingA novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
Read more about the article Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
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Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

Abstract The entire coding regions of the two breast cancer susceptibility genes BRCA1 and BRCA2 from breast cancer patients from 40 Cypriot families with multiple cases of breast and ovarian…

Continue ReadingHereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
Read more about the article Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3′ untranslated region transcripts.
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Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3′ untranslated region transcripts.

Abstract The woodchuck post-transcriptional regulatory element (WPRE) can naturally accumulate hepatitis transcripts in the cytoplasm, and has been recently exploited as an enhancer of transgene expression. The retention of mutant…

Continue ReadingWoodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3′ untranslated region transcripts.
Read more about the article Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus.
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Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus.

Abstract Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the endothelial cell nitric…

Continue ReadingEvidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus.
Read more about the article Chloroplast DNA microsatellite analysis supports a polyphyletic origin for barley.
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Chloroplast DNA microsatellite analysis supports a polyphyletic origin for barley.

Abstract Five barley chloroplast DNA microsatellites (cpSSRs) were used to study genetic relationships among a set of 186 barley accessions-34 Hordeum vulgare ssp. spontaneum (HS accessions) from Morocco, Ethiopia, Cyprus,…

Continue ReadingChloroplast DNA microsatellite analysis supports a polyphyletic origin for barley.
Read more about the article HLA-B27 in the Greek Cypriot population: distribution of subtypes in patients with ankylosing spondylitis and other HLA-B27-related diseases. The possible protective role of B*2707.
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HLA-B27 in the Greek Cypriot population: distribution of subtypes in patients with ankylosing spondylitis and other HLA-B27-related diseases. The possible protective role of B*2707.

Abstract The major purpose of the present study was to investigate the frequency of human leukocyte antigen (HLA)-B27 alleles in healthy controls and in patients with ankylosing spondylitis (AS) and…

Continue ReadingHLA-B27 in the Greek Cypriot population: distribution of subtypes in patients with ankylosing spondylitis and other HLA-B27-related diseases. The possible protective role of B*2707.
Read more about the article The shaping of mitochondrial DNA phylogeographic patterns of the brown hare (Lepus europaeus) under the combined influence of Late Pleistocene climatic fluctuations and anthropogenic translocations.
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The shaping of mitochondrial DNA phylogeographic patterns of the brown hare (Lepus europaeus) under the combined influence of Late Pleistocene climatic fluctuations and anthropogenic translocations.

Abstract The phylogeographic structure of the brown hare (Lepus europaeus) was studied by analysing mtDNA control region sequences of 98 individuals from continental and insular Greece, Bulgaria, Cyprus and northern…

Continue ReadingThe shaping of mitochondrial DNA phylogeographic patterns of the brown hare (Lepus europaeus) under the combined influence of Late Pleistocene climatic fluctuations and anthropogenic translocations.
Read more about the article Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
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Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Abstract GM1-gangliosidosis is a lysosomal storage disorder caused by a deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration and in its most severe infantile form it leads to…

Continue ReadingFour novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Read more about the article Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation.
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Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation.

Abstract Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). The…

Continue ReadingDescription of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation.
Read more about the article Restoration of protein synthesis in pancreatic cancer cells by trans-splicing ribozymes.
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Restoration of protein synthesis in pancreatic cancer cells by trans-splicing ribozymes.

Abstract This report describes the use of trans-splicing ribozymes to restore p16 protein synthesis in pancreatic cancer cells. A group I intron ribozyme was designed to trans-splice the 2 base-deleted…

Continue ReadingRestoration of protein synthesis in pancreatic cancer cells by trans-splicing ribozymes.