Read more about the article Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
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Genetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.

Abstract Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder primarily caused by mutants in the CYP21A2 gene. Heterozygosity for CYP21A2 mutations in females increases their risk of clinically…

Continue ReadingGenetic defects in the cyp21a2 gene in heterozygous girls with premature adrenarche and adolescent females with hyperandrogenemia.
Read more about the article The homeobox transcription factor cut coordinates patterning and growth during Drosophila airway remodeling.
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The homeobox transcription factor cut coordinates patterning and growth during Drosophila airway remodeling.

Abstract A fundamental question in developmental biology is how tissue growth and patterning are coordinately regulated to generate complex organs with characteristic shapes and sizes. We showed that in the…

Continue ReadingThe homeobox transcription factor cut coordinates patterning and growth during Drosophila airway remodeling.
Read more about the article Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.
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Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.

Abstract Autosomal dominant cerebellar ataxias (ADCAs) encompass a heterogeneous group of rare diseases that affect the cerebellum and its connections. The most common forms have been associated with dynamic mutations…

Continue ReadingInvestigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations.
Read more about the article C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.
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C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

Abstract Microscopic haematuria is the presenting symptom of several conditions, either heritable or acquired. A well-recognized familial condition is Alport syndrome, either of X-linked or autosomal recessive inheritance, as well…

Continue ReadingC3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.
Read more about the article KIF1Bβ transports dendritically localized mRNPs in neurons and is recruited to synapses in an activity-dependent manner.
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KIF1Bβ transports dendritically localized mRNPs in neurons and is recruited to synapses in an activity-dependent manner.

Abstract KIF1Bβ is a kinesin-like, microtubule-based molecular motor protein involved in anterograde axonal vesicular transport in vertebrate and invertebrate neurons. Certain KIF1Bβ isoforms have been implicated in different forms of…

Continue ReadingKIF1Bβ transports dendritically localized mRNPs in neurons and is recruited to synapses in an activity-dependent manner.
Read more about the article The complex history of the olive tree: from Late Quaternary diversification of Mediterranean lineages to primary domestication in the northern Levant.
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The complex history of the olive tree: from Late Quaternary diversification of Mediterranean lineages to primary domestication in the northern Levant.

Abstract The location and timing of domestication of the olive tree, a key crop in Early Mediterranean societies, remain hotly debated. Here, we unravel the history of wild olives (oleasters),…

Continue ReadingThe complex history of the olive tree: from Late Quaternary diversification of Mediterranean lineages to primary domestication in the northern Levant.
Read more about the article A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.
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A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.

Abstract β-thalassaemia is one of the commonest autosomal recessive single-gene disorders worldwide. Prenatal tests use invasive methods, posing a risk for the pregnancy itself. Development of a noninvasive prenatal diagnostic…

Continue ReadingA minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia.
Read more about the article Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study.
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Incidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study.

Abstract This is the first report of the incidence and causes of end-stage renal disease (ESRD) of the Turkish-Cypriot population in Northern Cyprus. Data were collected over eight consecutive years…

Continue ReadingIncidence of end-stage renal disease in the Turkish-Cypriot population of Northern Cyprus: a population based study.
Read more about the article Relative validity of the Children’s Eating Habits Questionnaire-food frequency section among young European children: the IDEFICS Study.
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Relative validity of the Children’s Eating Habits Questionnaire-food frequency section among young European children: the IDEFICS Study.

Abstract To compare, specifically by age group, proxy-reported food group estimates obtained from the food frequency section of the Children's Eating Habits questionnaire (CEHQ-FFQ) against the estimates of two non-consecutive…

Continue ReadingRelative validity of the Children’s Eating Habits Questionnaire-food frequency section among young European children: the IDEFICS Study.
Read more about the article BRCA1 and Its Network of Interacting Partners.
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BRCA1 and Its Network of Interacting Partners.

Abstract BRCA1 is a large multi-domain protein with a pivotal role in maintaining genome stability and cell cycle progression. Germline mutations in the BRCA1 gene confer an estimated lifetime risk…

Continue ReadingBRCA1 and Its Network of Interacting Partners.