Davide Seripa
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View article: JAK2 46/1 (GGCC) Haplotype in Oncogenesis, as Risk Stratifier, and Indicator for Drug Resistance in Myeloproliferative Neoplasms
JAK2 46/1 (GGCC) Haplotype in Oncogenesis, as Risk Stratifier, and Indicator for Drug Resistance in Myeloproliferative Neoplasms Open
The JAK2 46/1 (“GGCC”) haplotype is an inherited genetic variation within the Jak2 gene locus that has become a focal point in research related to oncogenesis, particularly in myeloproliferative neoplasms (MPNs). We conducted a narrative r…
View article: JAK2 46/1 (GGCC) Haplotype: A Biomarker for Oncogenesis, Risk Stratification, and Drug Resistance in Myeloproliferative Neoplasms
JAK2 46/1 (GGCC) Haplotype: A Biomarker for Oncogenesis, Risk Stratification, and Drug Resistance in Myeloproliferative Neoplasms Open
Background: The JAK2 46/1 ("GGCC") haplotype, is an inherited genetic variation within the JAK2 gene locus that has become a focal point in research related to oncogenesis, particularly in myeloproliferative neoplasms (MPNs). Met…
View article: Polygenic Hazard Score for Predicting Age-associated Risk of Alzheimer’s Disease in European Populations: Development and Validation
Polygenic Hazard Score for Predicting Age-associated Risk of Alzheimer’s Disease in European Populations: Development and Validation Open
Objectives Polygenic hazard score (PHS) models can be used to predict the age-associated risk for complex diseases, including Alzheimer’s disease (AD). In this study, we present an improved PHS model for AD that incorporates a large number…
View article: Machine learning in Alzheimer’s disease genetics
Machine learning in Alzheimer’s disease genetics Open
Traditional statistical approaches have advanced our understanding of the genetics of complex diseases, yet are limited to linear additive models. Here we applied machine learning (ML) to genome-wide data from 41,686 individuals in the lar…
View article: <i>APOE</i> stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers’s disease
<i>APOE</i> stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers’s disease Open
Among the more than 90 identified genetic risk loci for late-onset Alzheimer’s disease (AD) and related dementias, the apolipoprotein E gene ( APOE ) ɛ2/ɛ3/ɛ4 polymorphisms remains the longstanding benchmark for genetic disease risk with a…
View article: Real-World Efficacy and Safety of Gemtuzumab Ozogamycin (GO) and 3 + 7 regimen in fit newly diagnosed Acute Myeloid Leukemia (AML) patients. A Retrospective multicenter study of “Rete Ematologica Pugliese” (REP)
Real-World Efficacy and Safety of Gemtuzumab Ozogamycin (GO) and 3 + 7 regimen in fit newly diagnosed Acute Myeloid Leukemia (AML) patients. A Retrospective multicenter study of “Rete Ematologica Pugliese” (REP) Open
Gemtuzumab Ozogamicin, a monoclonal antibody targeting CD33, linked to calicheamicin, is approved in combination with "3 + 7″ for the treatment of patients with de novo CD33 positive AML. The aim of study was to evaluate the outcome of pat…
View article: Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals
Extremely rare CNVs contributing to Alzheimer disease risk: a case-control association analysis of exome sequencing data from 22,319 individuals Open
Rare coding single nucleotide variants (SNV) and short insertions or deletions (indels) contribute to Alzheimer disease (AD) genetic risk, from pathogenic variants in autosomal dominant genes to risk factors with diverse effects. In contra…
View article: Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation
Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation Open
Background: JAK2 V617F is a somatic mutation associated with myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). In MPNs, this mutation is associated with t…
View article: Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation
Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F Mutation Open
JAK2 V617F is a somatic mutation associated with myeloproliferative neoplasm (MPN): polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). In MPNs this mutation is associated with the germline GGCC (46/1) h…
View article: The Role of TOMM40 in Cardiovascular Mortality and Conduction Disorders: An Observational Study
The Role of TOMM40 in Cardiovascular Mortality and Conduction Disorders: An Observational Study Open
Aims: TOMM40 single nucleotide polymorphism (SNP) rs2075650 consists of allelic variation c.275-31A > G and it has been linked to Alzheimer disease, apolipoprotein and cholesterol levels and other risk factors. However, data on its role in…
View article: High plasma homocysteine levels predict the progression from mild cognitive impairment to dementia
High plasma homocysteine levels predict the progression from mild cognitive impairment to dementia Open
High levels of blood homocysteine (HCy), a well-known cardiovascular risk factor and promoter of oxidative stress, have been associated with the incidence of cognitive impairment and dementia. Nonetheless, contrasting data are still presen…
View article: Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by <i>HLA-DRB1*04</i> subtypes
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by <i>HLA-DRB1*04</i> subtypes Open
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same…
View article: Involvement of APOE in Incidence of Revascularization in Patients Affected by Peripheral Arterial Disease: A Prospective Study from Southern Italy
Involvement of APOE in Incidence of Revascularization in Patients Affected by Peripheral Arterial Disease: A Prospective Study from Southern Italy Open
Introduction. Atherosclerosis is a complex multifactorial disease and apolipoprotein E (APOE) polymorphism has been associated with cardiovascular events. The APOE gene, located on chromosome 19q13.2, has an important role in lipid metabol…
View article: Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease
Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease Open
Importance An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most of these risk factors is lacking. Effective interventions should target risk fact…
View article: Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"
Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease" Open
These are the burden test results (summary statistics) for the publication: "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s Disease", Nature Genetics, 2022. Format: tab-separated-valu…
View article: Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease"
Summary statistics for "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's Disease" Open
These are the burden test results (summary statistics) for the publication: "Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s Disease", Nature Genetics, 2022. Format: tab-separated-valu…
View article: Association of Rare <i>APOE</i> Missense Variants V236E and R251G With Risk of Alzheimer Disease
Association of Rare <i>APOE</i> Missense Variants V236E and R251G With Risk of Alzheimer Disease Open
In this genetic association study, a novel variant associated with AD was identified: R251G always coinherited with ε4 on the APOE gene, which mitigates the ε4-associated AD risk. The protective effect of the V236E variant, which is always…
View article: Protective association of HLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences
Protective association of HLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences Open
Using genome-wide association data, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s (PD) or Alzheimer’s (AD) disease versus controls across ancestry groups. A shared genetic association w…
View article: Are apolipoprotein E fragments a promising new therapeutic target for Alzheimer’s disease?
Are apolipoprotein E fragments a promising new therapeutic target for Alzheimer’s disease? Open
Human apolipoprotein E (ApoE) is a 299-amino acid secreted glycoprotein that binds cholesterol and phospholipids. ApoE exists as three common isoforms (ApoE2, ApoE3, and ApoE4) and heterozygous carriers of the ε4 allele of the gene encodin…
View article: Protective association of <i>HLA-DRB1</i>*04 subtypes in neurodegenerative diseases implicates acetylated Tau PHF6 sequences
Protective association of <i>HLA-DRB1</i>*04 subtypes in neurodegenerative diseases implicates acetylated Tau PHF6 sequences Open
Using genome-wide association data, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s (PD) or Alzheimer’s (AD) disease versus controls across ancestry groups. A shared genetic association w…
View article: Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease
Exome sequencing identifies rare damaging variants in the ATB8B4 and ABCA1 genes as novel risk factors for Alzheimer's disease Open
BACKGROUND: Damaging rare variants in the TREM2, SORL1 and ABCA7 genes have been associated with an increased risk of developing Alzheimer's Disease (AD) with odds ratios that were not observed since the identification of the main AD genet…
View article: Serum beta‐secretase 1 (BACE1) activity increases in patients with mild cognitive impairment
Serum beta‐secretase 1 (BACE1) activity increases in patients with mild cognitive impairment Open
Beta‐secretase 1 (BACE1) is considered as the key enzyme in amyloid‐β formation. Previous works suggest that high BACE1 activity may be present in brain, cerebrospinal fluid and serum of patients with late‐onset Alzheimer's disease (LOAD) …
View article: Serum Apo J as a potential marker of conversion from mild cognitive impairment to dementia
Serum Apo J as a potential marker of conversion from mild cognitive impairment to dementia Open
Our results suggest that in MCI subjects, low APOJ levels may be associated with increased risk of developing dementia.
View article: A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer’s Disease in a Large Italian Family
A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer’s Disease in a Large Italian Family Open
Mutations in the PSEN1 gene are the most common cause of autosomal dominant Alzheimer’s disease, and are characterized by a high phenotype variability. This study describes a five-generation family, with a prevalent late-onset of the disea…
View article: Efficacy and Safety of Nepa in Preventing Nausea and Vomiting Induced by Multiple-day Chemotherapy in Patients With Refractory/relapsed Aggressive Non-hodgkin’s Lymphoma Undergoing Stem Cell Mobilization Prior to Autologous Hematopoietic Stem Cell Transplantation
Efficacy and Safety of Nepa in Preventing Nausea and Vomiting Induced by Multiple-day Chemotherapy in Patients With Refractory/relapsed Aggressive Non-hodgkin’s Lymphoma Undergoing Stem Cell Mobilization Prior to Autologous Hematopoietic Stem Cell Transplantation Open
PurposePrevention of chemotherapy-induced nausea and vomiting (CINV) is particularly challenging for patients receiving highly emetogenic preparative regimens before autologous stem cell transplantation (ASCT) due to the daily and continuo…