Read more about the article Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium.
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Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium.

Abstract P.I157T is a CHEK2 missense mutation associated with a modest increase in breast cancer risk. Previously, another CHEK2 mutation, the protein truncating c.1100delC has been associated with poor prognosis…

Continue ReadingPatient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium.
Read more about the article Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.
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Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.

Abstract CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk…

Continue ReadingGenetic modifiers of CHEK2*1100delC-associated breast cancer risk.
Read more about the article Sudden unexpected death in epilepsy: experience from a tertiary epilepsy centre in Cyprus with review of the literature.
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Sudden unexpected death in epilepsy: experience from a tertiary epilepsy centre in Cyprus with review of the literature.

Abstract Sudden unexpected death in epilepsy (SUDEP) affects 0.09-9.3 per 1,000 person-years depending on the population studied and constitutes the most common cause of death in people with epilepsy. The…

Continue ReadingSudden unexpected death in epilepsy: experience from a tertiary epilepsy centre in Cyprus with review of the literature.
Read more about the article Loss of Nat4 and its associated histone H4 N-terminal acetylation mediates calorie restriction-induced longevity.
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Loss of Nat4 and its associated histone H4 N-terminal acetylation mediates calorie restriction-induced longevity.

Abstract Changes in histone modifications are an attractive model through which environmental signals, such as diet, could be integrated in the cell for regulating its lifespan. However, evidence linking dietary…

Continue ReadingLoss of Nat4 and its associated histone H4 N-terminal acetylation mediates calorie restriction-induced longevity.
Read more about the article Functional assessment for elimination of mismatches in nuclear and whole cell extracts obtained from mouse and human blastocysts.
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Functional assessment for elimination of mismatches in nuclear and whole cell extracts obtained from mouse and human blastocysts.

Abstract Preimplantation embryos may have an increased risk of having mismatches due to the rates of cell proliferation and DNA replication. Elimination of mismatches in human gametes and embryos has…

Continue ReadingFunctional assessment for elimination of mismatches in nuclear and whole cell extracts obtained from mouse and human blastocysts.
Read more about the article On the brain structure heterogeneity of autism: Parsing out acquisition site effects with significance-weighted principal component analysis.
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On the brain structure heterogeneity of autism: Parsing out acquisition site effects with significance-weighted principal component analysis.

Abstract Neuroimaging studies have reported structural and physiological differences that could help understand the causes and development of Autism Spectrum Disorder (ASD). Many of them rely on multisite designs, with…

Continue ReadingOn the brain structure heterogeneity of autism: Parsing out acquisition site effects with significance-weighted principal component analysis.
Read more about the article Psychopathic personality traits in 5 year old twins: the importance of genetic and shared environmental influences.
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Psychopathic personality traits in 5 year old twins: the importance of genetic and shared environmental influences.

Abstract There is limited research on the genetic and environmental bases of psychopathic personality traits in children. In this study, psychopathic personality traits were assessed in a total of 1189…

Continue ReadingPsychopathic personality traits in 5 year old twins: the importance of genetic and shared environmental influences.
Read more about the article Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
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Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

Abstract There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, cis-acting variants represent an important source of phenotypic variation. Consequently, cis-regulatory SNPs associated…

Continue ReadingAssociation of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Read more about the article DNA sequencing confirms PCR-RFLP identification of wild caught Larroussius sand flies from Crete and Cyprus.
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DNA sequencing confirms PCR-RFLP identification of wild caught Larroussius sand flies from Crete and Cyprus.

Abstract Many Phlebotomine sand fly species (Diptera, Psychodidae) are vectors of the protozoan parasite Leishmania causing a group of diseases called the leishmaniases. The subgenus Larroussius includes sand fly vectors…

Continue ReadingDNA sequencing confirms PCR-RFLP identification of wild caught Larroussius sand flies from Crete and Cyprus.
Read more about the article Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
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Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Abstract A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating…

Continue ReadingCombined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.