A5062089970- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Chromosomal and Genetic Variations
- Genetic Syndromes and Imprinting
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Genomics and Rare Diseases
- Autism Spectrum Disorder Research
- Pituitary Gland Disorders and Treatments
- Congenital Ear and Nasal Anomalies
- Growth Hormone and Insulin-like Growth Factors
- Congenital limb and hand anomalies
- COVID-19 and Mental Health
- Neurogenesis and neuroplasticity mechanisms
- Fetal and Pediatric Neurological Disorders
- Immunodeficiency and Autoimmune Disorders
- Pluripotent Stem Cells Research
- RNA modifications and cancer
- Amyotrophic Lateral Sclerosis Research
- Acute Myeloid Leukemia Research
- Microtubule and mitosis dynamics
- Pancreatic and Hepatic Oncology Research
- Chronic Lymphocytic Leukemia Research
Asociación por los Derechos Civiles
2024
Centro de Educación Médica e Investigaciones Clínicas Norberto Quirno
2019-2022
IRCCS Istituto Auxologico Italiano
2009-2019
Istituti di Ricovero e Cura a Carattere Scientifico
1997-2019
Casa Sollievo della Sofferenza
2012
University of Milan
1986-2007
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze genomes ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements more than two breakpoints. The displayed unanticipated complexity resembling chromothripsis. We find that eight them contain hallmarks multiple clustered double-stranded DNA breaks (DSBs) on one or chromosomes. In addition, nucleotide resolution analysis 98...
Parental submicroscopic genomic inversions have recently been demonstrated to be present in several disorders. These are polymorphisms that facilitate misalignment and abnormal recombination between flanking segmental duplications. Angelman syndrome (AS; MIM 105830) is associated with specific abnormalities of chromosome 15q11-q13, about 70% cases being mother-of-origin 4 Mb deletions. We here evidence some mothers AS patients deletions the 15q11-q13 region a heterozygous inversion involving...
Sleep-wake disturbances are often reported in Prader-Willi syndrome (PWS), a rare neurodevelopmental that is associated with paternally-expressed genomic imprinting defects within the human chromosome region 15q11-13. One of candidate genes, prevalently expressed brain, small nucleolar ribonucleic acid-116 (SNORD116). Here we conducted translational study into sleep abnormalities PWS, testing hypothesis SNORD116 responsible for characterize syndrome.We studied mutant mice carry deletion...
Twenty-five medical centers and the Prader-Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. Investigators participating contacted subjects and/or their family, filled specially developed form required data forwarded this information by email. The identified 425 (209 males 216 females, between ages 0.4-46.7). Two hundred thirty-eight patients had del15, 104 UPD15, 4 demonstrated...
Abstract Objective We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis de novo apparently balanced chromosome rearrangements to assess involvement specific chromosomes, breakpoints distribution and impact on pregnancy outcome. Method By means a questionnaire, data 269.371 analyses performed from 1983 2006 amniotic fluid, chorionic villus fetal blood samples were collected. Results A total 246 anomalies detected at frequencies 72% for reciprocal translocations, 18%...
Efficient application of stem cells to the treatment neurodegenerative diseases requires safe cell tracking follow fate over time in host environment after transplantation. In this work, for first time, fluorescent and biocompatible methyl methacrylate (MMA)-based nanoparticles (fluoNPs) were synthesized through a free-radical co-polymerization process with macromonomer obtained by linking Rhodamine B hydroxyethyl methacrylate. We demonstrate that fluoNPs produced polymerization...
The high-mobility group A2 ( HMGA2 ) gene has a critical role in benign tumors where it is frequently rearranged, and malignant tumors, overexpressed the absence of structural modification locus. By previous fluorescence situ hybridization (FISH) reverse transcriptase PCR analyses on human prolactin-secreting pituitary adenomas we detected rearrangement amplification its native region associated with activated expression. These data indicated for development prolactinomas, since they are...
Angelman syndrome usually has been considered to be rare and sporadic. However, recent reports suggest a sibling recurrence risk of just under 25 per cent, so early diagnosis is very important. The authors report in child seven months. features this (jerky movements, EEG characteristics, chromosomal abnormalities half the cases) should make it possible diagnose or suspect first year life.
Stem Cell (SC) therapy is one of the most promising approaches for treatment Amyotrophic Lateral Sclerosis (ALS). Here we employed Super Paramagnetic Iron Oxide nanoparticles (SPIOn) and Hoechst 33258 to track human Amniotic Fluid Cells (hAFCs) after transplantation in lateral ventricles wobbler (a murine model ALS) healthy mice. By vitro, vivo ex found that: 1) main physical parameters SPIOn were maintained over time; 2) hAFCs efficiently internalized into cytoplasm while labeled nuclei; 3)...
Specimens from 53 pituitary adenomas (PAs), including 17 NFPA, 16 PRL-, 9 ACTH-, GH- and 2 TSH-secreting tumors, underwent cytogenetic analysis by the direct short-term culture methods. Only 8 tumors (15%) appeared to have an abnormal karyotype. To increase resolution of analysis, preparations 31 PAs were investigated interphase FISH with probes specific for chromosomes 5, 8, 12 X, which gain in has been reported. Of these PAs, (54.8%) had dosage one or more 4 tested. Separate combined...
FOG‐2 (Friend of GATA 2) is a transcriptional cofactor able to differentially regulate the expression GATA‐target genes in different promoter contexts. Mouse models evidenced that plays role congenital heart disease and normal testis development. In human, while mutations have been identified sporadic cases tetralogy Fallot, no are described be associated with impaired gonadal function. We here describe young boy balanced t(8;10)(q23.1;q21.1) translocation who was born secundum‐type atrial...
Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with rare syndrome characterized by typical seizure phenotype, particular electroclinical pattern, cognitive impairment, behavioural problems and absence of consistent pattern dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) still unknown. We performed detailed clinical genetic study on 8 patients chromosome, aimed at detecting the syndrome. submitted subjects previous diagnosis chromosome...
The term "position effect" is used when the expression of a gene deleteriously affected by an alteration in its chromosomal environment even though integrity protein coding sequences maintained. We describe patient epilepsy and severe neurodevelopment delay carrying balanced translocation t(15;16)(p11.2;q12.1)dn that we assume caused position effect as result accidental juxtaposition heterochromatin euchromatic region.FISH mapped breakpoints (bkps) to 15p11.2 within satellite III 16q12.1...
Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes mild to severe intellectual disability, caused heterozygous mutations in either CREBBP or EP300 genes, encoding the homologous CBP p300 lysine-acetyltransferases transcriptional coactivators. No RSTS vitro induced Pluripotent Stem Cell (iPSC)-neuronal model available yet achieve mechanistic insights on cognitive impairment of patients....