Read more about the article Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
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Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.

Abstract

Continue ReadingOcular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association.
Read more about the article Evidence for activation of the unfolded protein response in collagen IV nephropathies.
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Evidence for activation of the unfolded protein response in collagen IV nephropathies.

Abstract Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These nephropathies invariably present with microscopic hematuria and frequently progress to…

Continue ReadingEvidence for activation of the unfolded protein response in collagen IV nephropathies.
Read more about the article Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
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Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.

Abstract Autism spectrum disorders (ASDs) comprise a distinct entity of neurodevelopmental disorders with a strong genetic component. Despite the identification of several candidate genes and causative genomic copy number variations…

Continue ReadingScreening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Read more about the article Young children’s screen activities, sweet drink consumption and anthropometry: results from a prospective European study.
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Young children’s screen activities, sweet drink consumption and anthropometry: results from a prospective European study.

Abstract This longitudinal study describes the relationship between young children's screen time, dietary habits and anthropometric measures. The hypothesis was that television viewing and other screen activities at baseline result…

Continue ReadingYoung children’s screen activities, sweet drink consumption and anthropometry: results from a prospective European study.
Read more about the article Population genetics of 17 Y-STR markers in Turkish Cypriots from Cyprus.
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Population genetics of 17 Y-STR markers in Turkish Cypriots from Cyprus.

Abstract We analyzed seventeen Y-chromosomal short tandem repeats (STRs) [DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448] in 253 unrelated, male…

Continue ReadingPopulation genetics of 17 Y-STR markers in Turkish Cypriots from Cyprus.
Read more about the article Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.
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Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.

Abstract B-thalassaemia and sickle cell disease (SCD) are two of the most common monogenic diseases that are found in many populations worldwide. In both disorders the clinical severity is highly…

Continue ReadingGenotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.
Read more about the article X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.
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X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.

Abstract Alport syndrome (ATS) results from X-linked, COL4A5 mutations (85%) or from autosomal recessive homozygous or compound heterozygous COL4A3/A4 mutations (15%), associated with alternate thinning and thickening as well as…

Continue ReadingX-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.
Read more about the article JNK1 stress signaling is hyper-activated in high breast density and the tumor stroma: connecting fibrosis, inflammation, and stemness for cancer prevention.
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JNK1 stress signaling is hyper-activated in high breast density and the tumor stroma: connecting fibrosis, inflammation, and stemness for cancer prevention.

Abstract Mammography is an important screening modality for the early detection of DCIS and breast cancer lesions. More specifically, high mammographic density is associated with an increased risk of breast…

Continue ReadingJNK1 stress signaling is hyper-activated in high breast density and the tumor stroma: connecting fibrosis, inflammation, and stemness for cancer prevention.
Read more about the article Making the connection: ciliary adhesion complexes anchor basal bodies to the actin cytoskeleton.
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Making the connection: ciliary adhesion complexes anchor basal bodies to the actin cytoskeleton.

Abstract Cilia have been associated with diverse developmental and physiological processes, and defects in cilia underlie a number of genetic conditions. Several lines of evidence support a critical role of…

Continue ReadingMaking the connection: ciliary adhesion complexes anchor basal bodies to the actin cytoskeleton.
Read more about the article miR-186 inhibits muscle cell differentiation through myogenin regulation.
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miR-186 inhibits muscle cell differentiation through myogenin regulation.

Abstract The complex process of skeletal muscle differentiation is organized by the myogenic regulatory factors (MRFs), Myf5, MyoD, Myf6, and myogenin, where myogenin plays a critical role in the regulation…

Continue ReadingmiR-186 inhibits muscle cell differentiation through myogenin regulation.