Read more about the article Early life course risk factors for childhood obesity: the IDEFICS case-control study.
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Early life course risk factors for childhood obesity: the IDEFICS case-control study.

Abstract The early life course is assumed to be a critical phase for childhood obesity; however the significance of single factors and their interplay is not well studied in childhood…

Continue ReadingEarly life course risk factors for childhood obesity: the IDEFICS case-control 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.
Read more about the article The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.
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The BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.

Abstract The identification of variants of unknown clinical significance (VUS) in the BRCA1 gene complicates genetic counselling and causes additional anxiety to carriers. In silico approaches currently used for VUS…

Continue ReadingThe BRCA1 variant p.Ser36Tyr abrogates BRCA1 protein function and potentially confers a moderate risk of breast cancer.
Read more about the article Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
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Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.

Abstract Pantothenate kinase-associated neurodegeneration (PKAN) is the commonest, recessively inherited form of neurodegeneration with brain iron accumulation (NBIA) resulting from mutations in the pantothenate kinase 2 (PANK2) gene on chromosome…

Continue ReadingNovel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
Read more about the article Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

Abstract The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could…

Continue ReadingGenetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.