A5034428665- Lymphoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Asthma and respiratory diseases
- CAR-T cell therapy research
- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- RNA regulation and disease
- T-cell and B-cell Immunology
- Inhalation and Respiratory Drug Delivery
- Musculoskeletal Disorders and Rehabilitation
- Disaster Response and Management
- Bone and Joint Diseases
- Mobile Health and mHealth Applications
- Rheumatoid Arthritis Research and Therapies
- Nuclear Receptors and Signaling
- Neurological disorders and treatments
- Endoplasmic Reticulum Stress and Disease
- Viral-associated cancers and disorders
- Bone health and treatments
- Systemic Lupus Erythematosus Research
- Cancer-related gene regulation
- Monoclonal and Polyclonal Antibodies Research
- Bone health and osteoporosis research
- Immunodeficiency and Autoimmune Disorders
- Diabetes and associated disorders
Azienda Ospedaliero Universitaria Maggiore della Carita
2023-2025
Università degli Studi del Piemonte Orientale “Amedeo Avogadro”
2023-2025
Calderdale and Huddersfield NHS Foundation Trust
2024
Brigham and Women's Hospital
2007-2023
Harvard University
2001-2021
University of Massachusetts Chan Medical School
2009
Boston University
1999-2002
University of Virginia Health System
2002
Massachusetts General Hospital
2001
Boston Public Schools
1999
The B cell receptor (BCR) signaling pathway plays a crucial role in development and contributes to the pathogenesis of neoplasms. In malignancies, BCR is constitutively active through both ligand-dependent ligand-independent mechanisms, resulting continuous Bruton tyrosine kinase (BTK) activation, which provides survival proliferation advantage neoplastic clone. Among those most significant results were obtained by treatment with BTK inhibitors (BTKi) include chronic lymphocytic leukemia,...
HLA-DRB1 shared epitope (HLA-SE), PTPN22 and CTLA4 alleles are associated with cyclic citrullinated peptide (CCP) rheumatoid arthritis (RA).We examined associations between HLA-SE, PTPN22, genotypes RA phenotypes in a large cohort to (a) replicate prior CCP status, (b) determine radiographic erosions age of diagnosis.A total 689 patients from the Brigham Sequential Study (BRASS) were genotyped for (rs2476601) (rs3087243). Association CCP, factor (RF) erosive at diagnosis assessed...
A genome-wide scan for idiopathic PD in a sample of 113 PD-affected sibling pairs is reported. Suggestive evidence linkage was found chromosomes 1 (214 cM, lod = 1.20), 9 (136 1.30), 10 (88 1.07), and 16 (114 0.93). The chromosome region overlaps the genes dopamine beta-hydroxylase torsion dystonia. Although no strong any locus, these results may be value comparison with similar studies by others.
Circulating tumor DNA (ctDNA) levels can help predict outcomes in diffuse large B-cell lymphoma (DLBCL), but its integration with DLBCL molecular clusters remains unexplored. Using the LymphGen tool 77 both ctDNA and tissue biopsy, a 95.8% concordance rate cluster assignment was observed, showing reproducibility of clustering on ctDNA. A multicenter, prospective cohort 166 newly diagnosed analyzed for using CAPP-seq. Patients < 2.5 log10hGE/mL had 4-year progression-free survival...
Objective: To examine patterns of familial aggregation and factors influencing onset age in a sample siblings with PD.
The treatment landscape of chronic lymphocytic leukemia (CLL), the most frequent in adults, is constantly changing. CLL patients can be divided into three risk categories, based on their IGHV mutational status and occurrence
Abstract The role of genetics in Parkinson disease (PD) continues to be an area considerable interest and controversy. We collected information involving the nuclear families 948 consecutively ascertained PD index cases from University Virginia (UVA) Health System, Medicine Dentistry New Jersey–Robert Wood Johnson (RWJ) School Medicine, Boston (BU) Medicine. performed a segregation analysis assess evidence for presence Mendelian pattern familial transmission. proportion male (60.4%) female...
Objective. RA is associated with localized bone loss in the hands, as well generalized osteoporosis. We evaluated relationship between hand digital X-ray radiogrammetry BMD (DXR-BMD) and total hip lumbar spine BMD. Methods. conducted a cross-sectional study of 138 post-menopausal women RA. The DXR-BMD was calculated based on digitized radiographs. Measurements were performed by DXA-BMD (BMDa) scan. Patient physician questionnaires laboratory samples supplied information relevant covariates....
Certain sequences present in the hypervariable region of human leucocyte antigen (HLA)-DRB1 known as shared epitope (SE) are hypothesised to increase risk rheumatoid arthritis (RA), whereas alleles encoding aspartic acid at position 70 (D70 alleles) may have a protective effect.Patient HLA-DRB1 serotypes were assessed and genotypes SE motif or putatively D70 identified large RA cohort. Logistic regression was used analyse associations genotype with presence disease, comorbidities disease...
The mutational status of immunoglobulin (IG) light chain genes in chronic lymphocytic leukemia (CLL) and its clinical impact have not been extensively studied. To assess their prognostic significance, the IG gene repertoire CLL patients has evaluated using a training-validation approach. In training cohort (N = 573 CLL), 92.5% showed productive rearrangements, with IGKV4-1 (20.5%) IGLV3-21 (19.0%) being most common. A 99.0% somatic hypermutation cut-off was identified as best predictor for...
Linkage analysis was performed on the GAW11 Problem 2 data set using stratification to explore effects of environmental risk factors and differences between mild severe phenotypes. Analysis four study populations stratified by two identified regions chromosomes 3 5 with significant evidence for linkage. Other loci were sought removing families consistent linkage chromosome locus. Our studies a locus (markers 43-46) associated phenotype in presence factor 1 independent 1. This suggests that...