Read more about the article Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
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Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Abstract CMT1X, an X-linked inherited neuropathy, is caused by mutations in GJB1, which codes for Cx32, a gap junction protein expressed by Schwann cells and oligodendrocytes. Many GJB1 mutations cause…

Continue ReadingLoss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
Read more about the article Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms.
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Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms.

Abstract Type 2 diabetes (T2D) has been the subject of numerous genetic studies in recent years which revealed associations of the disease with a large number of susceptibility loci. We…

Continue ReadingType 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms.
Read more about the article Plasticity vs Mutation. The role of microRNAs in human adaptation.
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Plasticity vs Mutation. The role of microRNAs in human adaptation.

Abstract The variability potential of a phenotype, on the background of the same genotype, is termed "phenotypic plasticity". This is considered by some scientists as a more important evolutionary procedure…

Continue ReadingPlasticity vs Mutation. The role of microRNAs in human adaptation.
Read more about the article Molecular diagnostics for detecting pyrethroid and abamectin resistance mutations in Tetranychus urticae.
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Molecular diagnostics for detecting pyrethroid and abamectin resistance mutations in Tetranychus urticae.

Abstract Avermectin and pyrethroid resistance mutations (the G314D and the G326E in the glutamate gated chloride channels, and the F1538I in the voltage gated sodium channel) have been reported in…

Continue ReadingMolecular diagnostics for detecting pyrethroid and abamectin resistance mutations in Tetranychus urticae.
Read more about the article ITS2-rDNA Sequence Variation of s.l. (Dip: Psychodidae) Populations in Iran.
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ITS2-rDNA Sequence Variation of s.l. (Dip: Psychodidae) Populations in Iran.

Abstract s.l. is considered the most likely vector of in Iran. Although two morphotypes- (A) and (B)-have been formally described, further morphological and a molecular analysis of mitochondrial cytochrome oxidase…

Continue ReadingITS2-rDNA Sequence Variation of s.l. (Dip: Psychodidae) Populations in Iran.
Read more about the article Short communication: Identification of variation in the ovine prolactin gene of Chios sheep with a cost-effective sequence-based typing assay.
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Short communication: Identification of variation in the ovine prolactin gene of Chios sheep with a cost-effective sequence-based typing assay.

Abstract The present study identified single nucleotide polymorphisms (SNP) in the coding and untranslated regions of the ovine prolactin gene of Chios sheep. By developing a cost-effective direct sequence-based typing…

Continue ReadingShort communication: Identification of variation in the ovine prolactin gene of Chios sheep with a cost-effective sequence-based typing assay.
Read more about the article Does complement Factor H-Related protein 5 Nephropathy (Troodos Nephropathy) protect from rickettsial infections?
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Does complement Factor H-Related protein 5 Nephropathy (Troodos Nephropathy) protect from rickettsial infections?

Abstract Complement Factor H-Related protein 5 Nephropathy (CFHR5N) is an endemic hereditary renal disease in the island of Cyprus. Although only very recently recognized, it has provided insight into previously…

Continue ReadingDoes complement Factor H-Related protein 5 Nephropathy (Troodos Nephropathy) protect from rickettsial infections?
Read more about the article Hb A Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.
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Hb A Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.

Abstract Thalassaemia is a potentially lethal inherited anaemia, caused by reduced or absent synthesis of globin chains. Measurement of the minor adult haemoglobin Hb A, combining α- with δ-globin, is…

Continue ReadingHb A Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.
Read more about the article Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
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Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

Abstract Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end…

Continue ReadingIdentification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
Read more about the article Evidence of digenic inheritance in autoinflammation-associated genes.
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Evidence of digenic inheritance in autoinflammation-associated genes.

Abstract Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a…

Continue ReadingEvidence of digenic inheritance in autoinflammation-associated genes.