Maroulio Pertesi
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View article: Mosaic chromosomal alterations in hematopoietic cells and clinical outcomes in patients with multiple myeloma
Mosaic chromosomal alterations in hematopoietic cells and clinical outcomes in patients with multiple myeloma Open
Mosaic chromosomal alterations (mCAs) in hematopoietic cells increase mortality and risk of hematological cancers and infections. We investigated the landscape of mCAs and their clinical consequences in 976 patients with multiple myeloma u…
View article: Deciphering the genetics and mechanisms of predisposition to multiple myeloma
Deciphering the genetics and mechanisms of predisposition to multiple myeloma Open
View article: The insertion/deletion polymorphism rs201494641 at <i>ITGA9</i> influences blood CD34+ cell levels by altering ZNF384 binding
The insertion/deletion polymorphism rs201494641 at <i>ITGA9</i> influences blood CD34+ cell levels by altering ZNF384 binding Open
Not available.
View article: Genome-wide CRISPR/Cas9 screen identifies regulators of BCMA expression on multiple myeloma cells
Genome-wide CRISPR/Cas9 screen identifies regulators of BCMA expression on multiple myeloma cells Open
View article: Functional and molecular profiling of hematopoietic stem cells during regeneration
Functional and molecular profiling of hematopoietic stem cells during regeneration Open
Hematopoietic stem cells (HSCs) enable hematopoietic stem cell transplantation (HCT) through their ability to replenish the entire blood system. Proliferation of HSCs is linked to decreased reconstitution potential, and a precise regulatio…
View article: Clinical characteristics and outcome of 318 families with familial monoclonal gammopathy: A multicenter Intergroupe Francophone du Myélome study
Clinical characteristics and outcome of 318 families with familial monoclonal gammopathy: A multicenter Intergroupe Francophone du Myélome study Open
Familial forms of monoclonal gammopathy, defined as multiple myeloma (MM) or Monoclonal Gammopathy of Undetermined Significance (MGUS), are relatively infrequent and most series reported in the literature describe a limited number of famil…
View article: Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk
Author Correction: Functional dissection of inherited non-coding variation influencing multiple myeloma risk Open
View article: Functional dissection of inherited non-coding variation influencing multiple myeloma risk
Functional dissection of inherited non-coding variation influencing multiple myeloma risk Open
View article: Author Correction: Germline variants at SOHLH2 influence multiple myeloma risk
Author Correction: Germline variants at SOHLH2 influence multiple myeloma risk Open
View article: Germline variants at SOHLH2 influence multiple myeloma risk
Germline variants at SOHLH2 influence multiple myeloma risk Open
View article: Genome-wide association study on 13,167 individuals identifies regulators of hematopoietic stem and progenitor cell levels in human blood
Genome-wide association study on 13,167 individuals identifies regulators of hematopoietic stem and progenitor cell levels in human blood Open
Understanding how hematopoietic stem and progenitor cells (HSPCs) are regulated is of central importance for the development of new therapies for blood disorders and stem cell transplantation. To date, HSPC regulation has been extensively …
View article: Accelerating target deconvolution for therapeutic antibody candidates using highly parallelized genome editing
Accelerating target deconvolution for therapeutic antibody candidates using highly parallelized genome editing Open
View article: Correction: S100A6 is a critical regulator of hematopoietic stem cells
Correction: S100A6 is a critical regulator of hematopoietic stem cells Open
View article: S100A6 is a critical regulator of hematopoietic stem cells
S100A6 is a critical regulator of hematopoietic stem cells Open
The fate options of hematopoietic stem cells (HSCs) include self-renewal, differentiation, migration, and apoptosis. HSCs self-renewal divisions in stem cells are required for rapid regeneration during tissue damage and stress, but how pre…
View article: Essential genes shape cancer genomes through linear limitation of homozygous deletions
Essential genes shape cancer genomes through linear limitation of homozygous deletions Open
View article: Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma
Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma Open
View article: <i>KRAS</i>mutations in blood circulating cell-free DNA: a pancreatic cancer case-control
<i>KRAS</i>mutations in blood circulating cell-free DNA: a pancreatic cancer case-control Open
The utility of KRAS mutations in plasma circulating cell-free DNA (cfDNA) samples as non-invasive biomarkers for the detection of pancreatic cancer has never been evaluated in a large case-control series. We applied a KRAS amplicon-based d…
View article: No evidence that protein truncating variants in <i>BRIP1</i> are associated with breast cancer risk: implications for gene panel testing
No evidence that protein truncating variants in <i>BRIP1</i> are associated with breast cancer risk: implications for gene panel testing Open
Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studie…
View article: Multigene testing of moderate-risk genes: be mindful of the missense
Multigene testing of moderate-risk genes: be mindful of the missense Open
Background Moderate-risk genes have not been extensively studied, and missense substitutions in them are generally returned to patients as variants of uncertain significance lacking clearly defined risk estimates. The fraction of early-ons…
View article: Rare Circulating Cells in Familial Waldenström Macroglobulinemia Displaying the MYD88 L265P Mutation Are Enriched by Epstein-Barr Virus Immortalization
Rare Circulating Cells in Familial Waldenström Macroglobulinemia Displaying the MYD88 L265P Mutation Are Enriched by Epstein-Barr Virus Immortalization Open
The MYD88 L265P is a recurrent somatic mutation in neoplastic cells from patients with Waldenström Macroglobulinemia (WM). We identified the MYD88 L265P mutation in three individuals from unrelated families, but its presence did not explai…
View article: Common Variants at 9q22.33, 14q13.3, and ATM Loci, and Risk of Differentiated Thyroid Cancer in the French Polynesian Population
Common Variants at 9q22.33, 14q13.3, and ATM Loci, and Risk of Differentiated Thyroid Cancer in the French Polynesian Population Open
A clear link could not be established between the high incidence in French Polynesia and the studied polymorphisms, involved in susceptibility to DTC in other populations. Important variation in allele frequencies was observed in the Polyn…
View article: Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population
Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population Open
We confirmed in the Cuban population the role of the loci previously associated with DTC susceptibility in European and Japanese populations through genome-wide association studies. Our results on ATM and the number of pregnancies raise in…