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Your search keyword '"Matteo, Barcella"' showing total 4 results
Start Over Author "Matteo, Barcella" Publisher wiley
4 results on '"Matteo, Barcella"'

1. S250: UNVEILING THE BIOLOGICAL ROLE OF PERIPHERAL BLOOD HUMAN CIRCULATING HEMATOPOIETIC STEM AND PROGENITOR CELLS

Author

Pamela Quaranta, Luca Basso-Ricci, Raisa Jofra Hernandez, Matteo Maria Naldini, Matteo Barcella, Guido Pacini, Carlo Pietrasanta, Lorenza Pugni, Giulia Pais, Fabrizio Benedicenti, Stefania Giannelli, Ilaria Monti, Silvia Darin, Graziano Barera, Francesca Tucci, Francesca Ferrua, Valeria Calbi, Bernhard Gentner, Raffaella DI Micco, Eugenio Montini, Andrea Calabria, Ivan Merelli, Fabio Mosca, Maria Ester Bernardo, Maria Pia Cicalese, Alessandro Aiuti, and Scala Serena

Subjects
Diseases of the blood and blood-forming organs, RC633-647.5
Published
2023
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4. Next-generation sequencing of a family with a high penetrance of monoclonal gammopathies for the identification of candidate risk alleles

Author

Alberto Mussetti, Paolo Corradini, Cristiana Carniti, Matteo Barcella, Nikhil C. Munshi, Cristina Barlassina, Hervé Avet-Loiseau, Erika Salvi, Niccolo Bolli, Francesco Maura, Vittorio Montefusco, Chiara De Philippis, Antonio Vendramin, Peter J. Campbell, and Francesca D'Avila

Subjects
0301 basic medicine, Genetics, Cancer Research, Single-nucleotide polymorphism, Locus (genetics), Biology, Gene mutation, medicine.disease, Penetrance, DNA sequencing, 03 medical and health sciences, 030104 developmental biology, Oncology, Monoclonal, Risk allele, medicine, Multiple myeloma
Abstract

BACKGROUND The authors describe a family with a high penetrance of plasma cell dyscrasias, suggesting inheritance of an autosomal dominant risk allele. METHODS The authors performed whole-exome sequencing and reported on a combined approach aimed at the identification of causative variants and risk loci, using the wealth of data provided by this approach. RESULTS The authors identified gene mutations and single-nucleotide polymorphisms of potential significance, and pinpointed a known risk locus for myeloma as a potential area of transmissible risk in the family. CONCLUSIONS To the authors' knowledge, the current study is the first to provide a whole-exome sequencing approach to such cases, and a framework analysis that could be applied to further understanding of the inherited risk of developing plasma cell dyscrasias. Cancer 2017. © 2017 American Cancer Society.

Published
2017

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