Marco Tartaglia
A5048934823- Protein Tyrosine Phosphatases
- Galectins and Cancer Biology
- RNA modifications and cancer
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Peptidase Inhibition and Analysis
- Connective tissue disorders research
- PI3K/AKT/mTOR signaling in cancer
- Epigenetics and DNA Methylation
- Mitochondrial Function and Pathology
- Glioma Diagnosis and Treatment
- Cellular transport and secretion
- Genetic factors in colorectal cancer
- Genetic Neurodegenerative Diseases
- Cancer Genomics and Diagnostics
- Congenital heart defects research
- Ubiquitin and proteasome pathways
- RNA regulation and disease
- Genetic Syndromes and Imprinting
- Metabolism and Genetic Disorders
- Cardiomyopathy and Myosin Studies
- Lysosomal Storage Disorders Research
- Immunodeficiency and Autoimmune Disorders
- RNA Research and Splicing
Bambino Gesù Children's Hospital
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2024
University of Wisconsin–Madison
2022-2023
Roma Tre University
2023
Sapienza University of Rome
2023
Icahn School of Medicine at Mount Sinai
2001-2022
University of Bologna
2004-2022
University of Verona
2022
University of Turin
2022
University of Naples Federico II
2022
Aberrant signal transduction contributes substantially to leukemogenesis. The Janus kinase 1 (JAK1) gene encodes a cytoplasmic tyrosine that noncovalently associates with variety of cytokine receptors and plays nonredundant role in lymphoid cell precursor proliferation, survival, differentiation. We report somatic mutations JAK1 occur individuals acute lymphoblastic leukemia (ALL). were more prevalent among adult subjects the T ALL, where they accounted for 18% cases, associated advanced age...
Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, CFCS) are developmental disorders with overlapping features including distinctive facial dysmorphia, reduced growth, cardiac defects, skeletal ectodermal anomalies, variable cognitive deficits. Dysregulated RAS-mitogen-activated protein kinase (MAPK) signal traffic has been established to represent the molecular pathogenic cause underlying these conditions. To investigate phenotypic spectrum diversity of germline mutations...
Abstract In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to novel (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes angiotensin...
Abstract The possible existence of yet undiscovered human tumorigenic viruses is still under scrutiny. development large-scale sequencing technologies, coupled with bioinformatics techniques for the characterization metagenomic sequences, have provided an invaluable tool detection unknown, infectious, agents, as demonstrated by several recent studies. However, discoveries novel possibly associated tumorigenesis are scarce at best. Here, we apply a rigorous workflow to investigate in depth...
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during replication. When operating normally, the MUTYH glycosylase prevents 8-oxoguanine-related mutagenesis by excising incorporated adenine. Biallelic mutations impair this enzymatic function and are associated colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome. Here, we perform whole-exome sequencing that reveals modest mutator phenotype MAP CRCs compared to sporadic...
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated cells and associated with a variable clinical spectrum having overlap more common pathophysiologies. HLH difficult diagnose can be part inflammatory syndromes. Here, we identify novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients superimposable features, including neonatal-onset cytopenia dyshematopoiesis, autoinflammation,...
Overlapping clinical phenotypes and an expanding breadth complexity of genomic associations are a growing challenge in the diagnosis management Mendelian disorders. The functional consequences impacts variation may involve unique, disorder-specific, DNA methylation episignatures. In this study, we describe 19 novel episignature disorders compare findings alongside 38 previously established episignatures for total 57 associated with 65 genetic syndromes. We demonstrate increasing resolution...