Read more about the article Hb A Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.
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Hb A Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.

Abstract Thalassaemia is a potentially lethal inherited anaemia, caused by reduced or absent synthesis of globin chains. Measurement of the minor adult haemoglobin Hb A, combining α- with δ-globin, is…

Continue ReadingHb A Episkopi – a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.
Read more about the article Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
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Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

Abstract Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end…

Continue ReadingIdentification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
Read more about the article Evidence of digenic inheritance in autoinflammation-associated genes.
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Evidence of digenic inheritance in autoinflammation-associated genes.

Abstract Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a…

Continue ReadingEvidence of digenic inheritance in autoinflammation-associated genes.
Read more about the article Genomic and genetic studies of systemic sclerosis: A systematic review.
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Genomic and genetic studies of systemic sclerosis: A systematic review.

Abstract Systemic sclerosis is an autoimmune rheumatic disease characterised by fibrosis, vasculopathy and inflammation. The exact aetiology of SSc remains unknown but evidences show that various genetic factors may be…

Continue ReadingGenomic and genetic studies of systemic sclerosis: A systematic review.
Read more about the article Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.
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Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.

Abstract Pelizaeus-Merzbacher-like disease or hypomyelinating leukodystrophy-2 is an autosomal recessively inherited leukodystrophy with childhood onset resulting from mutations in the gene encoding the gap junction protein connexin 47 (Cx47, encoded…

Continue ReadingGene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model.
Read more about the article Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.
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Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.

Abstract Diagnostic testing for primary ciliary dyskinesia (PCD) usually includes transmission electron microscopy (TEM), nasal nitric oxide, high-speed video microscopy, and genetics. Diagnostic performance of each test should be assessed…

Continue ReadingPrevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.
Read more about the article Vsx1 Transiently Defines an Early Intermediate V2 Interneuron Precursor Compartment in the Mouse Developing Spinal Cord.
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Vsx1 Transiently Defines an Early Intermediate V2 Interneuron Precursor Compartment in the Mouse Developing Spinal Cord.

Abstract Spinal ventral interneurons regulate the activity of motor neurons, thereby controlling motor activities. Interneurons arise during embryonic development from distinct progenitor domains distributed orderly along the dorso-ventral axis of…

Continue ReadingVsx1 Transiently Defines an Early Intermediate V2 Interneuron Precursor Compartment in the Mouse Developing Spinal Cord.
Read more about the article Functional characterisation of long intergenic non-coding RNAs through genetic interaction profiling in Saccharomyces cerevisiae.
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Functional characterisation of long intergenic non-coding RNAs through genetic interaction profiling in Saccharomyces cerevisiae.

Abstract Transcriptome studies have revealed that many eukaryotic genomes are pervasively transcribed producing numerous long non-coding RNAs (lncRNAs). However, only a few lncRNAs have been ascribed a cellular role thus…

Continue ReadingFunctional characterisation of long intergenic non-coding RNAs through genetic interaction profiling in Saccharomyces cerevisiae.
Read more about the article Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
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Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Abstract Breast cancer risks conferred by many germline missense variants in the and genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study,…

Continue ReadingHypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.
Read more about the article Further evidence for the role of pregnancy-induced hypertension and other early life influences in the development of ADHD: results from the IDEFICS study.
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Further evidence for the role of pregnancy-induced hypertension and other early life influences in the development of ADHD: results from the IDEFICS study.

Abstract The aim of this study is to investigate whether in addition to established early risk factors other, less studied pre-, peri-, and postnatal influences, like gestational hypertension or neonatal…

Continue ReadingFurther evidence for the role of pregnancy-induced hypertension and other early life influences in the development of ADHD: results from the IDEFICS study.