A5070069186- Cancer Genomics and Diagnostics
- Genetics, Bioinformatics, and Biomedical Research
- Viral Infections and Immunology Research
- Glycosylation and Glycoproteins Research
- Immune Cell Function and Interaction
- Food Allergy and Anaphylaxis Research
- T-cell and B-cell Immunology
- Schizophrenia research and treatment
- Infections and bacterial resistance
- Adrenal and Paraganglionic Tumors
- Mycobacterium research and diagnosis
- Pancreatic and Hepatic Oncology Research
- Genomics and Rare Diseases
- RNA and protein synthesis mechanisms
- Lung Cancer Treatments and Mutations
- Plant Pathogenic Bacteria Studies
- Glioma Diagnosis and Treatment
- Viral gastroenteritis research and epidemiology
- Pituitary Gland Disorders and Treatments
- Eosinophilic Disorders and Syndromes
- Genetic Associations and Epidemiology
- RNA Interference and Gene Delivery
- Genetic Syndromes and Imprinting
Pfizer (United States)
2024
Icahn School of Medicine at Mount Sinai
2015-2020
Parathyroid carcinoma (PC) is an extremely rare malignancy lacking effective therapeutic intervention. We generated and analyzed whole-exome sequencing data from 17 patients to identify somatic germline genetic alterations. A panel of selected genes was sequenced in a 7-tumor expansion cohort. show that 47% (8 17) the tumors harbor mutations CDC73 tumor suppressor, with inactivating variants 4 8 patients. The PI3K/AKT/mTOR pathway altered 21% 24 cases, revealing major oncogenic PC. observed...
Personalized therapy provides the best outcome of cancer care and its implementation in clinic has been greatly facilitated by recent convergence enormous progress basic research, rapid advancement new tumor profiling technologies, an expanding compendium targeted therapeutics.
Abstract Clozapine is the most effective antipsychotic drug for schizophrenia, yet it can cause life-threatening adverse reactions, including myocarditis. The aim of this study was to determine whether schizophrenia patients with clozapine-induced myocarditis have a genetic predisposition compared clozapine-tolerant controls. We measured different types variation, genome-wide single-nucleotide polymorphisms (SNPs), coding variants that alter protein expression, and variable forms human...
Abstract The genomes of classical inbred mouse strains include genes derived from all three major subspecies the house mouse, Mus musculus . We recently posited that genetic diversity in immunoglobulin heavy chain (IGH) gene loci C57BL/6 and BALB/c mice reflects differences origin. To investigate this hypothesis, we conducted high‐throughput sequencing IGH rearrangements to document variable ( IGHV ), joining IGHJ ) IGHD four wild‐derived CAST /EiJ, LEWES MSM /MsJ PWD /PhJ) a single disease...
ABSTRACT Whole-genome sequences for Stenotrophomonas maltophilia serial isolates from a bacteremic patient before and after development of levofloxacin resistance were assembled de novo differed by one single-nucleotide variant in smeT , repressor multidrug efflux operon smeDEF . Along with sequenced five contemporaneous cases, they displayed considerable diversity compared against all published complete genomes. sequencing assembly can conclusively identify mechanisms emerging S. strains...
Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene USP8 have been identified as recurrent and pathogenic are sole known molecular driver for CD. Although other were reported studies, their contribution to pathogenesis of CD remains unexplored. No drivers established a large proportion cases tumor heterogeneity has not yet investigated using genomics methods. Also, even...
RNA medicines have become a promising platform for therapeutic use in recent years. Understanding the immunomodulatory effects of novel mRNA-LNPs is crucial future development. An vitro whole blood assay was developed to assess impact on immune cell function, cytokine release, and complement activation. significantly increased CD69 expression T cells natural killer (NK) cells, CD80/CD86 myeloid subsets, dose-dependent fashion. Furthermore, elicited robust release pro-inflammatory cytokines,...
ABSTRACT The genomes of classical inbred mouse strains include genes derived from all three major subspecies the house mouse, Mus musculus . We recently posited that genetic diversity in immunoglobulin heavy chain (IGH) gene loci C57BL/6 and BALB/c mice reflect differences origin. To investigate this hypothesis, we conducted high-throughput sequencing IGH rearrangements to document variable (IGHV), joining (IGHJ), (IGHD) four wild-derived (CAST/EiJ, LEWES/EiJ, MSM/MsJ, PWD/PhJ), a single...