Read more about the article The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
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The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.

Abstract Fras1 and the structurally related proteins Frem1, Frem2, and Frem3, comprise a novel family of extracellular matrix proteins, which localize in a similar fashion underneath the lamina densa of…

Continue ReadingThe Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.
Read more about the article Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.
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Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.

Abstract Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12…

Continue ReadingCryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.
Read more about the article DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus.
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DNA-repair genetic polymorphisms and risk of breast cancer in Cyprus.

Abstract The DNA repair pathway is known to play a role in the etiology of breast cancer. A number of studies have demonstrated that common germline variants in genes involved…

Continue ReadingDNA-repair genetic polymorphisms and risk of breast cancer in Cyprus.
Read more about the article Isoenzymatic characterization of Phlebotomus papatasi (Diptera: Psychodidae) of the Marrakech area, Morocco.
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Isoenzymatic characterization of Phlebotomus papatasi (Diptera: Psychodidae) of the Marrakech area, Morocco.

Abstract This study reports the genetic characterization of urban and rural populations of Phlebotomus (Phlebotomus) papatasi Scopoli (Diptera: Psychodidae) in Marrakech, Morocco. Using isoenzymatic analysis, four Moroccan populations were compared…

Continue ReadingIsoenzymatic characterization of Phlebotomus papatasi (Diptera: Psychodidae) of the Marrakech area, Morocco.
Read more about the article Hb Agrinio [alpha29(B10)Le–>uPro (alpha2)] in combination with –(MED I). Results in a severe form of Hb H disease.
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Hb Agrinio [alpha29(B10)Le–>uPro (alpha2)] in combination with –(MED I). Results in a severe form of Hb H disease.

Abstract We report two cases of compound heterozygote patients for the --(MED I) and Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] anomalies in two unrelated Greek Cypriot families. The first patient had a…

Continue ReadingHb Agrinio [alpha29(B10)Le–>uPro (alpha2)] in combination with –(MED I). Results in a severe form of Hb H disease.
Read more about the article Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes.
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Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes.

Abstract High-throughput genome-wide screening methods to detect subtle genomic imbalances are extremely important for diagnostic genetics and genomics. Here, we provide a detailed protocol for a microarray-based technique, applying the…

Continue ReadingArray-MAPH: a methodology for the detection of locus copy-number changes in complex genomes.
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.