A5057657265- Genomic variations and chromosomal abnormalities
- Chronic Lymphocytic Leukemia Research
- Genetic factors in colorectal cancer
- Glycosylation and Glycoproteins Research
- Autism Spectrum Disorder Research
- Metabolism and Genetic Disorders
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Cardiac Arrhythmias and Treatments
- Amino Acid Enzymes and Metabolism
- melanin and skin pigmentation
- Health, Environment, Cognitive Aging
- Genomics and Rare Diseases
- Cardiomyopathy and Myosin Studies
- Metabolism, Diabetes, and Cancer
- Digestive system and related health
- Genetics and Neurodevelopmental Disorders
- Cardiac electrophysiology and arrhythmias
- Diet and metabolism studies
Biogen (Italy)
2024
DNA methylation variants have been widely used as biomarkers of ageing and several mathematical models developed to estimate the biological age. More recently, technology has triggered efforts toward simplification array-based epigenetic clocks targeted approaches, based on assessment a small number CpG sites developed. Among markers included in these clocks, ELOVL2, FHL2, KLF14, C1orf132/MIR29B2C, TRIM59 resulted be most strongly validated markers. We tested reproducibility validation...
Abstract Background and purpose Glucose transporter‐1 (GLUT1) deficiency syndrome (GLUT1‐DS) is a metabolic disorder due to reduced expression of GLUT1, glucose transporter the central nervous system. GLUT1‐DS caused by heterozygous SLC2A1 variants that mostly arise de novo. Here, we report large family with heterogeneous phenotypes related novel variant. Methods We present clinical genetic features five‐generation GLUT1‐DS. Results The 14 (nine living) affected members had phenotypes,...
Abstract Background The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving region ranging from 1.6 to 1.76 Mb. A small of 448.8 Kb containing only two genes was recently described in patient with that proposed as the minimal critical overlap this syndrome. Methods Molecular karyotyping (array‐CGH) performed on DNA extracted peripheral blood samples using Agilent‐California USA Human Genome CGH...
In humans the normal development of cortical regions depends on complex interactions between a number proteins that promote migrations neuronal precursors from germinal zones and assembly into laminae. ASTN2 is one implicated in such process. Recently it has been observed also regulates surface expression multiple synaptic resulting modulation activity. Several rare copy variants (CNVs) gene were identified patients with neurodevelopmental disorders (NDDs) including autism spectrum (ASD),...
Abstract IrisPlex system represents the most popular model for eye colour prediction. Based on six polymorphisms this provides very accurate predictions that strongly depend definition of phenotypes. The aim present study was to introduce a new approach improve prediction using well-validated system. A sample 238 individuals from Southern Italian population collected and each them high-resolution image obtained. By quantifying variation into CIELAB space several clustering algorithms were...
Inherited cardiac channelopathies are major causes of sudden death (SCD) in young people. Genetic testing is focused on the identification single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number (CNVs), which need specific detection tools. We underlie utility identifying CNVs investigating literature data and internally analyzing cohorts with
Partial duplication of the short arm chromosome 7 is a rare rearrangement. The phenotype spectrum associated with this rearrangement extremely variable even if in last decade use high-resolution microarray technology for investigation patients carrying allowed identification 7p22.1 sub-band causative and to recognize corresponding microduplication syndrome. We report two unrelated that carry involving 7.22.2 sub-band. Unlike carriers, both only show neurodevelopmental disorder without...