A5012790096- Psoriasis: Treatment and Pathogenesis
- Epigenetics and DNA Methylation
- Ocular Oncology and Treatments
- Dermatology and Skin Diseases
- Cytokine Signaling Pathways and Interactions
- Chromatin Remodeling and Cancer
- T-cell and B-cell Immunology
- Asthma and respiratory diseases
- Histone Deacetylase Inhibitors Research
- Ubiquitin and proteasome pathways
- Genomic variations and chromosomal abnormalities
- Animal Genetics and Reproduction
- Immunotherapy and Immune Responses
- CRISPR and Genetic Engineering
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Molecular Biology Techniques and Applications
- Genetics and Neurodevelopmental Disorders
- Genomics and Chromatin Dynamics
- Glycosylation and Glycoproteins Research
- DNA Repair Mechanisms
- RNA modifications and cancer
- Immune Cell Function and Interaction
- Monoclonal and Polyclonal Antibodies Research
- Nutrition, Genetics, and Disease
Icahn School of Medicine at Mount Sinai
2017-2025
Washington University in St. Louis
2007-2023
Mount Sinai Hospital
2023
Imperial College London
2013-2022
Lung Institute
2013-2020
British Lung Foundation
2016-2020
Royal Brompton Hospital
2013-2019
New Mexico Cancer Center
2019
University of New Mexico
2019
The London College
2017
An Eye on Metastasis Despite the considerable progress being made in elucidating cell biology of metastasis, little is known about genetic alterations that promote metastasis human tumors, cause most cancer deaths. A potentially important clue now emerges from work Harbour et al. (p. 1410 , published online 4 November), who used an exome-sequencing approach to search for mutations uveal melanomas, eye associated with a high rate fatal metastasis. Remarkably, over 80% tumor samples metastatic...
X-linked autoimmunity-allergic disregulation syndrome (XLAAD) is an recessive immunological disorder characterized by multisystem autoimmunity, particularly early-onset type 1 diabetes mellitus, associated with manifestations of severe atopy including eczema, food allergy, and eosinophilic inflammation. Consistent the allergic phenotype, analysis two kindreds XLAAD revealed marked skewing patient T lymphocytes toward Th2 phenotype. Using a positional-candidate approach, we have identified in...
A genome-wide association study was performed to identify genetic factors involved in susceptibility psoriasis (PS) and psoriatic arthritis (PSA), inflammatory diseases of the skin joints humans. 223 PS cases (including 91 with PSA) were genotyped 311,398 single nucleotide polymorphisms (SNPs), results compared those from 519 Northern European controls. Replications an independent cohort 577 737 controls U.S., 576 PSA patients 480 U.K.. Strongest associations class I region major...
A gene involved in psoriasis susceptibility was localized to the distal region of human chromosome 17q as a result genome-wide linkage analysis with polymorphic microsatellites and eight multiply affected kindreds. In family which showed strongest evidence for linkage, recombination fraction between locus D17S784 0.04 maximum two-point lod score 5.33. There also genetic heterogeneity although none linked families any association HLA-Cw6, two unlinked weak levels association. This study...
Accuracy of evolutionary analysis populations within a species requires the testing large number genetic polymorphisms belonging to many loci. We report here reconstruction human differentiation based on 100 DNA tested in five from four continents. The results agree with earlier conclusions other classes markers but reveal that Europeans do not fit simple model independently evolving equal rates. Evolutionary models involving early admixture are compatible data. Taking one such into account,...
Early/initiating oncogenic mutations have been identified for many cancers, but such remain unidentified in uveal melanoma (UM). An extensive search was undertaken, focusing on the RAF/MEK/ERK pathway, which is often target of initiating other types cancer.DNA samples from primary UMs were analyzed 24 potential oncogenes that affect pathway. For GNAQ, a stimulatory alpha(q) G-protein subunit recently found to be mutated UMs, resequencing expanded include 67 and 22 peripheral blood samples....
Metastasis is responsible for the death of most cancer patients, yet few therapeutic agents are available which specifically target molecular events that lead to metastasis. We recently showed inactivating mutations in tumor suppressor gene BAP1 closely associated with loss melanocytic differentiation uveal melanoma (UM) and The purpose this study was identify reverse phenotypic effects UM.In silico screens were done compounds predicted differentiate UM cells using Gene Set Enrichment...
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder autosomal-dominant inheritance and high penetrance, but the causative genetic mutation unknown.We have now identified four truncating mutations involving gene PRRT2 in vast majority (24/25) of well-characterized families PKD/IC.PRRT2 were also detected 28 78 additional families.PRRT2 encodes a proline-rich transmembrane protein unknown function that has been reported to interact t-SNARE,...
Psoriasis is a chronic and complex inflammatory skin disease with lesions displaying dramatically altered mRNA expression profiles.However, much less known about the of small RNAs.Here, we describe comprehensive analysis normal psoriatic miRNAome next-generation sequencing in large patient cohort.We generated 6.7 3 10 8 RNA reads representing 717 284 putative novel microRNAs (miRNAs).We also observed widespread isomiRs miRNA * s derived from loci, low frequency editing skin.The processing...