A5087944806- Blood groups and transfusion
- Bone Metabolism and Diseases
- CRISPR and Genetic Engineering
- Erythrocyte Function and Pathophysiology
- Blood properties and coagulation
- Genomics and Chromatin Dynamics
- Neonatal Health and Biochemistry
- Bone health and treatments
- Pluripotent Stem Cells Research
- Hemoglobinopathies and Related Disorders
- RNA modifications and cancer
- RNA Research and Splicing
- Animal Genetics and Reproduction
- Genetics and Neurodevelopmental Disorders
- Poisoning and overdose treatments
- NF-κB Signaling Pathways
- Blood Coagulation and Thrombosis Mechanisms
- Vitamin K Research Studies
- Prenatal Screening and Diagnostics
- Blood disorders and treatments
- Digestive system and related health
- Clinical Laboratory Practices and Quality Control
- Pregnancy and preeclampsia studies
- Diet and metabolism studies
- Chromosomal and Genetic Variations
IRCCS Humanitas Research Hospital
2008-2024
Institute of Genetic and Biomedical Research
2012-2024
Humanitas University
2012-2021
National Research Council
2007-2021
Istituti di Ricovero e Cura a Carattere Scientifico
2019-2021
National Academies of Sciences, Engineering, and Medicine
2014-2016
Institute of Biomedical Technologies
1993-2008
Fondazione Humanitas per la Ricerca
1994-2008
Istituto per le Tecnologie Didattiche
2003-2004
University of Siena
2001-2002
Among 94 osteopetrotic patients presenting with a severe clinical picture and diagnosed early in life, 12 bore mutations the ClCN7 gene, but only 7 of them had expected two recessive mutations. The remaining five seem to be heterozygous for mutation, significant variations were observed manifestations their disease, even within same family.Human osteopetroses are heterogeneous group diseases that include both infantile severe, autosomal (ARO) adult dominant (ADO) forms. Two genes, Atp6a3...
Cornelia de Lange syndrome (CdLS) is a clinically heterogeneous developmental disorder characterized by facial dysmorphia, upper limb malformations, growth and cognitive retardation. Mutations in the sister chromatid cohesion factor genes NIPBL, SMC1A SMC3 are present approximately 65% of CdLS patients. In addition to their canonical roles chromosome segregation, cohesin proteins involved other biological processes such as regulation gene expression, DNA repair maintenance genome stability....
Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism. The TCIRG1 gene, encoding the a3 subunit vacuolar proton pump, which mediates acidification bone/osteoclast interface, responsible for more than one-half arOP patients. We performed genetic analysis in 55 patients including 25 new cases and identified nine novel mutations. two most frequent mutations, c.1674–1G>A (aberrant splicing: r.1674_1884del) c.2005C>T (protein...
Abstract Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption osteoclasts. In 2000, we found that mutations in the TCIRG1 gene encoding for subunit of proton pump (V-ATPase) are responsible more than one-half ARO cases. Since then, five additional genes have been demonstrated to be involved pathogenesis disease, leaving approximately 25% cases could not associated with genotype. Very recently, mutation sorting nexin 10...
HE VISCI~RAL MANIFESTATIONS of the malig-T nant lymphomas and allied diseases are clinical importance, since SIGNIFICANT visceral involvement occurs in almost all subjects afflicted with these CRITICAL is found approximately 20 per cent them.The data to be presented consist 123 cases neoplasms reticuloendotlielial system verified by autopsy at University California Hospital between years 1935 1948.In each instance tissue sections were classified accordance specific histological criteria...
Abstract A large portion of hepatocytes are polyploid cells, thought to arise through endoduplication followed by aborted cytokinesis. However, several recent reports describing liver cell fusion with exogenously derived bone marrow cells have been published. The exact significance this finding is unclear, because the adopted protocols involve ablation regimens, damaged livers and artificial injections adult cells. By creating chimeric mice bearing distinct reporter genes (LacZ GFP), we show...
Globoid cell leukodystrophy (GLD) is a rare neurodegenerative lysosomal storage disease caused by an inherited deficiency of β-galactocerebrosidase (GALC). GLD pathogenesis and therapeutic correction have been poorly studied in patient neural cells. Here, we investigated the impact GALC lentiviral vector-mediated rescue/overexpression induced pluripotent stem (iPSC)-derived progenitors neuronal/glial progeny obtained from two patients. displayed progressive psychosine storage,...
Three synthetic vitamin K compounds were administered to 26 patients with hypoprothrombinemia. Following treatment the prothrombin concentration: (1) was markedly elevated in 11 obstructive jaundice, (2) not 8 and only slightly 3 chronic diseases of liver; (3) 1 patient, after an initial delay patient acute (4) moderately 2 patients, one non-tropical sprue, other gastro-colic fistula. When considered terms dosages employed, there no significant qualitative differences relative effectiveness...
The clustered regularly interspaced short palindromic repeat (CRISPR)/associated 9 (Cas9) technology has been recently added to the tools allowing efficient and easy DNA targeting, representing a very promising approach gene engineering. Using CRISPR/Cas9 system we have driven integration of exogenous sequences X-linked Hprt mouse embryonic stem cells. We show here that simple fluorescence in situ hybridization (FISH)-based strategy allows detection frequency evaluation non-specific...
ABSTRACT Mutations in the TCIRG1 gene, coding for a subunit of osteoclast proton pump, are responsible more than 50% cases human malignant autosomal recessive osteopetrosis (ARO), rare inherited bone disease with increased density owing to failure resorption. A wide variety mutations has been described, including missense, nonsense, small deletions/insertions, splice-site mutations, and large genomic deletions, all leading similar severe presentation. So far, best our knowledge, no report...