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 Discovering genetic polymorphism associated with gene expression levels across the whole genome.
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Discovering genetic polymorphism associated with gene expression levels across the whole genome.

Abstract Genetic differences have been shown to contribute to gene expression variability. A complete evaluation of the associations between a whole genome scan with 550k Single Nucleotide Polymorphisms (SNPs) and…

Continue ReadingDiscovering genetic polymorphism associated with gene expression levels across the whole genome.
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 Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia.
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Assessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia.

Abstract The objective of this study was to identify factors involved in the success of 2 well-established population-based carrier screening programs - Tay-Sachs disease (TSD) in Ashkenazi Jews and beta-thalassemia…

Continue ReadingAssessing the potential success of cystic fibrosis carrier screening: lessons learned from Tay-Sachs disease and beta-thalassemia.
Read more about the article A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
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A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.

Abstract Recent studies and advances in high-density oligonucleotide arrays have shown that microdeletions and microduplications occur at a high frequency in the human genome, causing various genetic conditions including mental…

Continue ReadingA new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
Read more about the article High frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus.
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High frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus.

Abstract A cluster of Friedreich's ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus. Molecular genetic studies revealed that all patients had the…

Continue ReadingHigh frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus.
Read more about the article Quaternary history and contemporary patterns in a currently expanding species.
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Quaternary history and contemporary patterns in a currently expanding species.

Abstract Quaternary climatic oscillations had dramatic effects on species evolution. In northern latitudes, populations had to survive the coldest periods in refugial areas and recurrently colonized northern regions during interglacials.…

Continue ReadingQuaternary history and contemporary patterns in a currently expanding species.
Read more about the article SOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch.
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SOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch.

Abstract During neural development the transition from neurogenesis to gliogenesis, known as the neuron-glial (Nu/G) fate switch, requires the coordinated function of patterning factors, pro-glial factors and Notch signalling. How…

Continue ReadingSOX1 links the function of neural patterning and Notch signalling in the ventral spinal cord during the neuron-glial fate switch.
Read more about the article Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
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Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.

Abstract We report five mutations, three of them novel, responsible for maple syrup urine disease in four unrelated Cypriot families. The five children studied are the first cases of classic…

Continue ReadingMaple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
Read more about the article Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
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Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.

Abstract Inability to correctly repair DNA damage is known to play a role in the development of breast cancer. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been identified,…

Continue ReadingGenetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.