A5033116313- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Blood groups and transfusion
- RNA modifications and cancer
- Prenatal Screening and Diagnostics
- Erythrocyte Function and Pathophysiology
- Biomedical and Engineering Education
- Scientific Computing and Data Management
- Neonatal Health and Biochemistry
- Epigenetics and DNA Methylation
- DNA and Nucleic Acid Chemistry
- DNA Repair Mechanisms
- Genomic variations and chromosomal abnormalities
- Folate and B Vitamins Research
- Cystic Fibrosis Research Advances
- Genomics and Chromatin Dynamics
- RNA and protein synthesis mechanisms
- CRISPR and Genetic Engineering
- Transplantation: Methods and Outcomes
- Oral and gingival health research
- RNA Research and Splicing
- Genomics and Rare Diseases
- Mechanical Circulatory Support Devices
- Viral Infectious Diseases and Gene Expression in Insects
- Cynara cardunculus studies
Institute of Genetics and Biophysics
2010-2023
National Research Council
2016-2023
University of Sassari
2004
Centre international de recherche sur le cancer
2002
University of North Carolina at Chapel Hill
2002
Mahidol University
2000-2002
UNC Lineberger Comprehensive Cancer Center
2002
Institute of Biochemistry and Biophysics, Polish Academy of Sciences
2000
Mononuclear cells from peripheral blood of thalassemic patients were treated with morpholino oligonucleotides antisense to aberrant splice sites in mutant β-globin precursor mRNAs (pre-mRNAs). The restored correct splicing and translation mRNA, increasing the hemoglobin (Hb) A synthesis erythroid IVS2–654/β E , IVS2–745/IVS2–745, IVS2–745/IVS2–1 genotypes. maximal Hb level for repaired IVS2–745 mutation was ≈30% normal; still detectable 9 days after a single treatment oligonucleotide. Thus,...
Abstract Nowadays, Quality Management tools such as failure mode and effect analysis (FMEA) are widely used throughout the aeronautical, automotive, software, food services, health care many other industries to sustain improve quality safety. The increasing complexity of scientific research makes it more difficult maintain all activities under control, in order guarantee validity reproducibility results. Even non-regulated research, scientists need be supported with management that maximize...
Summary A family from the Southeast of Italy was found to have a novel β ‐globin mutant, +45 G→C, with features silent ‐thalassaemia mutation. It asymptomatic in two heterozygotes, but its interaction severe thalassaemia mutation ‐IVS‐II‐654 C→T worsened haematological and biosynthetic phenotype compound heterozygotes; moreover, another heterozygote, who also heterozygote for α anti3·7 , suffered intermedia. The associated cis IVS‐II‐754 T→C substitution, which did not lead abnormally...
Correct human β-globin mRNA has been restored in erythroid cells from transgenic mice carrying the gene with IVS2–654 splice mutation and thalassemia patients IVS2–654/β<sup>E</sup> genotype. This was accomplished a dose- time-dependent manner by free uptake of morpholino oligonucleotide antisense to aberrant site at position 652 intron 2 pre-mRNA. Under optimal conditions uptake, maximal levels correct hemoglobin A patients9 were 77 54%, respectively. These correction equal to, if not...
The α-globin chains are encoded by two duplicated genes (HBA2 and HBA1, 5′–3′) showing overall sequence homology >96% average CG content >60%. α-Thalassemia, the most prevalent worldwide autosomal recessive disorder, is a hereditary anemia caused variations of these in about 25% carriers. We evaluated sensitivity suitability DHPLC DG-DGGE scanning both carrying out retrospective analysis 19 variant alleles 29 genotypes. HBA2 c.1A>G, c.79G>A, c.281T>G, HBA1 allele c.475C>A were new. Three...
The increase of Hb A2 (α2δ2) beyond the upper limit [2.0–2.2/3.3–3.4% total hemoglobin (Hb)] is an invaluable tool in hematological screening β-thalassemia (β-thal) carriers. Factors decreasing percentages can hinder correct diagnosis. In order to analyze genotype-phenotype relationship, we characterized δ-, β- and α-globin genotypes 190 families where probands had values ≤2.0% or were β-thal heterozygotes with normal levels. was measured cation exchange high performance liquid...
Abstract The activity of human paraoxonase 2 (PON2) is rapidly reduced in cells incubated with the bacterial quorormone 3-Oxo-dodecanoyl Homoserine Lactone (3OC12HSL), an observation that led to hypothesize a fast PON2 post-translational modification (PTM). Recently, we detected 3OC12HSL-induced PTM cell-free system which crude extract from 3OC12HSL-treated HeLa was able inactivate and ubiquitinate at position 144 recombinant PON2. Here show occurrence this new PTMs on cells. were found...
AbstractWe detected Hb D-Los Angeles [β121(GH4)Glu→Gln], the most common hemoglobin variant after S and Lepore-Boston, in six unrelated families Southern Italy. Ten patients were studied; eight heterozygotes two compound for β-thalassemia codon 39 (C→T) nonsense mutation. The β-globin gene sequence was characterized by polymerase chain reaction direct sequencing; restriction fragment length polymorphisms defined blot analysis. variant, due to GAA→CAA substitution at 121, found association...
We characterized mutations and haplotypes of the δ-globin gene (HBD, MIM# 142000) in two regions southern Italy. Mutations were discovered by screening for individuals with Hb A2<2%. In Basilicata, about 10,000 students screened 53 carriers 43 unrelated families diagnosed; Campania, cases referred through a routine thalassemia counseling service. Twelve alleles detected. Four novel variants [Hb A2-Metaponto (g.238C>A), A2-Campania (g.302C>A), A2-Lucania (g.393C>G), A2-Capri (g.443G>T)]. was...
Objective and importance: To verify the presence of β-thalassemia in subjects showing hematologic phenotype α-thalassemia, conduct normal molecular sequence analysis α-globin genes, detect absence most frequent α-thalassemia deletions.Clinical presentation: A patient from Apulia (Southern Italy) was referred to our institution for occasional founding hypochromic polyglobulia microcytic red blood cells associated with levels Hb A2 F iron parameters.Intervention technique: The has been...
We identified two new variants in the third exon of α-globin gene families from southern Italy: Hb Rogliano, α1 cod108 ACC>AAC or α1[α108(G15)Thr→Asn] and Policoro, α2 cod124 TCC>CCC α2[α124(H7)Ser→Pro]. The carriers showed mild α-thalassemia phenotype abnormal hemoglobin stability features. These mutations occurred G H helices both involved specific recognition AHSP β1 chain. Molecular characterization mRNA, globin chain analyses molecular modelling studies were carried out to highlight...
We report a new unstable variant identified in three carriers of family from East Sicily; it was named Hb Bronte after the place which originated. DNA sequencing nucleotides −181 to +894 (α1) and +884 (α2) revealed GTG→GGG substitution at codon 93 α2‐globin gene. The MCV MCH values were lower end normal range carriers. On cation exchange high performance liquid chromatography (HPLC), A2 level apparently increased around 6%, small abnormal peak (0.3–0.4%) detected A2. Two bands by cellulose...
Abstract Objectives To characterize the molecular basis of a β‐thalassemia defect in subjects with mild microcytosis associated normal Hb A2 and increased levels F. Methods Six from three apparently unrelated families Campania (southern Italy) have been investigated using DNA restriction analysis, inverse PCR , cloning, sequencing, multiplex ligation‐dependent probe amplification ( MLPA ), quantitative real‐time gap‐ . Results We identified novel 55‐kb β‐globin gene cluster deletion...