Read more about the article COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.
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COL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.

Abstract Mutations in the COL4A3/COL4A4 genes of type IV collagen account for about 40% of cases of thin basement membrane nephropathy, a condition that is estimated to affect 1% or…

Continue ReadingCOL4A3 founder mutations in Greek-Cypriot families with thin basement membrane nephropathy and focal segmental glomerulosclerosis dating from around 18th century.
Read more about the article A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
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A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.

Abstract Senataxin (chromosome 9q34) was recently identified as the causative gene for an autosomal recessive form of Ataxia (ARCA), termed as Ataxia with Oculomotor Apraxia, type 2 (AOA2) and characterized…

Continue ReadingA novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
Read more about the article Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.
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Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.

Abstract Murine oligodendrocytes express the gap junction (GJ) proteins connexin32 (Cx32), Cx47, and Cx29. CNS phenotypes in patients with X-linked Charcot-Marie-Tooth disease may be caused by dominant effects of Cx32…

Continue ReadingHuman oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.
Read more about the article Characterization of the porcine KIT ligand gene: expression analysis, genomic structure, polymorphism detection and association with coat colour traits.
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Characterization of the porcine KIT ligand gene: expression analysis, genomic structure, polymorphism detection and association with coat colour traits.

Abstract Kit ligand (KITLG) is the ligand for the type III receptor tyrosine kinase KIT. Studies of the KIT/KITLG pathway in a number of mammalian species have shown that it…

Continue ReadingCharacterization of the porcine KIT ligand gene: expression analysis, genomic structure, polymorphism detection and association with coat colour traits.
Read more about the article Thalassemia and its relevance to personalized medicine.
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Thalassemia and its relevance to personalized medicine.

Abstract Thalassemias are the most common monogenic gene disorders in the world. Patients present with a wide variability of clinical phenotypes ranging from severe phenotype (β-thalassemia major) to a very…

Continue ReadingThalassemia and its relevance to personalized medicine.
Read more about the article Generation of an ABCG2(GFPn-puro) transgenic line–a tool to study ABCG2 expression in mice.
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Generation of an ABCG2(GFPn-puro) transgenic line–a tool to study ABCG2 expression in mice.

Abstract The ATP-binding cassette (ABC) transporter 2 (ABCG2) is expressed by stem cells in many organs and in stem cells of solid tumors. These cells are isolated based on the…

Continue ReadingGeneration of an ABCG2(GFPn-puro) transgenic line–a tool to study ABCG2 expression in mice.
Read more about the article Population programs for the detection of couples at risk for severe monogenic genetic diseases.
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Population programs for the detection of couples at risk for severe monogenic genetic diseases.

Abstract Population genetic screening programs for carrier detection of severe genetic disorders exist worldwide, mainly for beta-thalassemia. These screening programs are either mandatory or voluntary. In several Arab countries and…

Continue ReadingPopulation programs for the detection of couples at risk for severe monogenic genetic diseases.
Read more about the article The paraphyletic composition of Leishmania donovani zymodeme MON-37 revealed by multilocus microsatellite typing.
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The paraphyletic composition of Leishmania donovani zymodeme MON-37 revealed by multilocus microsatellite typing.

Abstract Multilocus microsatellite typing (MLMT) was employed to compare strains of Leishmania donovani belonging to the MON-37 zymodeme (MON-37 strains) from Cyprus and Israel to MON-37 strains from the Indian…

Continue ReadingThe paraphyletic composition of Leishmania donovani zymodeme MON-37 revealed by multilocus microsatellite typing.
Read more about the article Hemoglobin variants in Cyprus.
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Hemoglobin variants in Cyprus.

Abstract Cyprus, located at the eastern end of the Mediterranean region, has been a place of eastern and western civilizations, and the presence of various hemoglobin (Hb) variants can be…

Continue ReadingHemoglobin variants in Cyprus.
Read more about the article Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.
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Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.

Abstract The gap junction (GJ) protein connexin32 (Cx32) is expressed by myelinating Schwann cells and oligodendrocytes and is mutated in X-linked Charcot-Marie-Tooth disease. In addition to a demyelinating peripheral neuropathy,…

Continue ReadingConnexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects.