Read more about the article Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation.
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Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation.

Abstract Dysarthrophonia is often reported by hereditary spastic paraplegia (HSP) patients with SPG11 mutations but it has been poorly investigated. The goal of this study was to investigate dysarthrophonia in…

Continue ReadingQuantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation.
Read more about the article Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
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Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

Abstract Poikiloderma with neutropenia (PN) is a genodermatosis currently described in 77 patients, all presenting with early-onset poikiloderma, neutropenia, and several additional signs. Biallelic loss-of-function mutations in USB1 gene are…

Continue ReadingInsights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
Read more about the article Polyunsaturated fatty acid status at birth, childhood growth, and cardiometabolic risk: a pooled analysis of the MEFAB and RHEA cohorts.
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Polyunsaturated fatty acid status at birth, childhood growth, and cardiometabolic risk: a pooled analysis of the MEFAB and RHEA cohorts.

Abstract Polyunsaturated fatty acid (PUFA) status during pregnancy has been suggested to influence offspring obesity and cardiometabolic health. We assessed whether prenatal PUFA exposure is associated with rapid infant growth,…

Continue ReadingPolyunsaturated fatty acid status at birth, childhood growth, and cardiometabolic risk: a pooled analysis of the MEFAB and RHEA cohorts.
Read more about the article COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
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COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Abstract About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the…

Continue ReadingCOL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
Read more about the article Neurotransmitter receptor genotypes associated with mental and behavioral disorders.
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Neurotransmitter receptor genotypes associated with mental and behavioral disorders.

Abstract Investigation of association studies within the field of mental and behavioral disorders is of value given their complex molecular etiology including epistatic interactions of multiple genes with small effects.…

Continue ReadingNeurotransmitter receptor genotypes associated with mental and behavioral disorders.
Read more about the article A 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.
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A 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.

Abstract

Continue ReadingA 74-Year-Old Female with a Well Circumscribed Parietal Lobe Mass.
Read more about the article Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
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Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.

Abstract Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping…

Continue ReadingIdentification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.
Read more about the article Short-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
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Short-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.

Abstract

Continue ReadingShort-hairpin RNA against aberrant HBB[IVSI-110(G>A)] mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary hematopoietic stem cells.
Read more about the article Terc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.
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Terc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.

Abstract High-risk human papillomaviruses (HPVs) have been shown in vitro to impinge on telomere homeostasis in a number of ways. However, the in vivo interaction of viruses with the telomere…

Continue ReadingTerc is dispensable for most of the short-term HPV16 oncogene-mediated phenotypes in mice.
Read more about the article Positioning Europe for the EPITRANSCRIPTOMICS challenge.
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Positioning Europe for the EPITRANSCRIPTOMICS challenge.

Abstract The genetic alphabet consists of the four letters: C, A, G, and T in DNA and C,A,G, and U in RNA. Triplets of these four letters jointly encode 20…

Continue ReadingPositioning Europe for the EPITRANSCRIPTOMICS challenge.