Read more about the article Association Between the Probability of Autism Spectrum Disorder and Normative Sex-Related Phenotypic Diversity in Brain Structure.
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Association Between the Probability of Autism Spectrum Disorder and Normative Sex-Related Phenotypic Diversity in Brain Structure.

Abstract Autism spectrum disorder (ASD) is 2 to 5 times more common in male individuals than in female individuals. While the male preponderant prevalence of ASD might partially be explained…

Continue ReadingAssociation Between the Probability of Autism Spectrum Disorder and Normative Sex-Related Phenotypic Diversity in Brain Structure.
Read more about the article TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer.
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TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer.

Abstract TP53 overexpression is indicative of somatic TP53 mutations and associates with aggressive tumors and poor prognosis in breast cancer. We utilized a two-stage SNP association study to detect variants…

Continue ReadingTP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer.
Read more about the article Re-analysis of unassigned hepatitis C virus (HCV) strain CYHCV025: Evidence of a highly divergent lineage within genotype 1.
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Re-analysis of unassigned hepatitis C virus (HCV) strain CYHCV025: Evidence of a highly divergent lineage within genotype 1.

Abstract HCV global sequences have been classified into 7 genotypes, several subtypes and a number of unassigned sequences. Our aim was to perform an in depth investigation of the taxonomic…

Continue ReadingRe-analysis of unassigned hepatitis C virus (HCV) strain CYHCV025: Evidence of a highly divergent lineage within genotype 1.
Read more about the article Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening.
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Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening.

Abstract To determine the incidence and the causes of sudden death (SD) in persons aged 1-35 years old and the diagnostic yield of clinically guided genetic screening in the sudden…

Continue ReadingSudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening.
Read more about the article Simple in vitro generation of human leukocyte antigen-G-expressing T-regulatory cells through pharmacological hypomethylation for adoptive cellular immunotherapy against graft-versus-host disease.
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Simple in vitro generation of human leukocyte antigen-G-expressing T-regulatory cells through pharmacological hypomethylation for adoptive cellular immunotherapy against graft-versus-host disease.

Abstract Major barriers in using classical FOXP3+ regulatory T cells (Tregs) in clinical practice are their low numbers in the circulation, the lack of specific cell surface markers for efficient…

Continue ReadingSimple in vitro generation of human leukocyte antigen-G-expressing T-regulatory cells through pharmacological hypomethylation for adoptive cellular immunotherapy against graft-versus-host disease.
Read more about the article Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
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Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.

Abstract Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that…

Continue ReadingTargeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
Read more about the article Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
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Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.

Abstract Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder resulting from TBX3 haploinsufficiency. It typically affects limb, apocrine gland, hair, tooth and genital development and shows marked intrafamilial and interfamilial…

Continue ReadingNovel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome.
Read more about the article Letter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes".
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Letter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes".

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Abstract

Continue ReadingLetter to the editor regarding the article "A case of hypertrophic and dilated cardiomyopathic sudden cardiac death: de novo mutation in TTN and SGCD genes".
Read more about the article Mouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.
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Mouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.

Abstract Starch binding domain-containing protein 1 (Stbd1) is a carbohydrate-binding protein that has been proposed to be a selective autophagy receptor for glycogen. Here, we show that mouse Stbd1 is…

Continue ReadingMouse Stbd1 is -myristoylated and affects ER-mitochondria association and mitochondrial morphology.
Read more about the article HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.
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HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.

Abstract The HLA-G molecule presents immunomodulatory properties that might inhibit immune responses when interacting with specific Natural Killer and T cell receptors, such as KIR2DL4, ILT2 and ILT4. Thus, HLA-G…

Continue ReadingHLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus.