A5064122320- Viral-associated cancers and disorders
- Genomics and Chromatin Dynamics
- Epigenetics and DNA Methylation
- Salivary Gland Tumors Diagnosis and Treatment
- Cancer and Skin Lesions
- CRISPR and Genetic Engineering
- Parvovirus B19 Infection Studies
- Ear and Head Tumors
- Autoimmune Bullous Skin Diseases
- Tuberculosis Research and Epidemiology
- Cytomegalovirus and herpesvirus research
- Genetic and rare skin diseases.
- Soft tissue tumors and treatment
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Inflammatory Myopathies and Dermatomyositis
- Skin and Cellular Biology Research
- Hemoglobinopathies and Related Disorders
- Tumors and Oncological Cases
- Polyomavirus and related diseases
- Nail Diseases and Treatments
- Cutaneous lymphoproliferative disorders research
- RNA modifications and cancer
- Infectious Diseases and Tuberculosis
- Vascular Tumors and Angiosarcomas
- Chronic Lymphocytic Leukemia Research
Cornell University
2021-2025
Vertex Pharmaceuticals (United States)
2017-2024
Loyola University Chicago
2024
St. Jude Children's Research Hospital
2021
Children's Hospital of Philadelphia
2021
Children’s Hospital at TriStar Centennial
2021
University of Pennsylvania
2021
University of Tübingen
2021
University of Toronto
2021
University of Illinois Chicago
2021
The reference human genome sequence set the stage for studies of genetic variation and its association with disease, but epigenomic lack a similar reference. To address this need, NIH Roadmap Epigenomics Consortium generated largest collection so far epigenomes primary cells tissues. Here we describe integrative analysis 111 as part programme, profiled histone modification patterns, DNA accessibility, methylation RNA expression. We establish global maps regulatory elements, define modules...
Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases with potentially life-threatening manifestations. BCL11A is a transcription factor that represses γ-globin expression fetal hemoglobin in erythroid cells. We performed electroporation of CD34+ hematopoietic stem progenitor cells obtained from healthy donors, CRISPR-Cas9 targeting the erythroid-specific enhancer. Approximately 80% alleles at this locus were modified, no evidence off-target...
Abstract X chromosome inactivation (XCI) silences transcription from one of the two chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete humans: up one-third X-chromosomal genes are expressed both active inactive (Xa Xi, respectively) cells, with degree ‘escape’ varying individuals 1,2 . The extent which is shared tissues remains poorly characterized 3,4 , as does manifests detectable sex differences gene 5 phenotypic...
The mechanisms contributing to transcription-associated genomic instability are both complex and incompletely understood. Although R-loops normal transcriptional intermediates, they also associated with instability. Here, we show that BRCA1 is recruited form normally over a subset of transcription termination regions. There it mediates the recruitment specific, physiological binding partner, senataxin (SETX). Disruption this led R-loop-driven DNA damage at those loci as reflected by adjacent...
Although several hundred regions of the human genome harbor signals positive natural selection, few relevant adaptive traits and variants have been elucidated. Using full-genome sequence variation from 1000 Genomes (1000G) Project composite multiple (CMS) test, we investigated 412 candidate leveraged functional annotation, protein structure modeling, epigenetics, association studies to identify extensively annotate causal variants. The resulting catalog provides a tractable list for...
Highlights•Soft X-ray tomography reveals chromatin networks in olfactory neurons•Chromatin compaction increases during neurogenesis•Condensed moves to nuclear core differentiation•HP1β regulates reorganization of mature neuronsSummaryThe realization that distribution DNA, RNA, and proteins differs between cell types developmental stages suggests organization serves regulatory functions. Understanding the logic architecture how it contributes differentiation fate commitment remains...
Epigenomic data sets provide critical information about the dynamic role of chromatin states in gene regulation, but a key question how state segmentations vary under different conditions across genome has remained unaddressed. Here we present ChromDiff, group-wise comparison method that generates an information-theoretic representation epigenomes and corrects for external covariate factors to better isolate relevant changes. By applying ChromDiff 127 from Roadmap Epigenomics ENCODE...
X chromosome inactivation (XCI) silences the transcription from one of two chromosomes in mammalian female cells to balance expression dosage between XX females and XY males. XCI is, however, characteristically incomplete humans: up third X-chromosomal genes are expressed both active inactive (Xa Xi, respectively) cells, with degree “escape” varying individuals 1, 2 (Fig. 1). However, extent which is shared tissues remains poorly characterized 3,4 , as does manifests detectable sex...
The interplay between lipid droplets (LDs) and endosomes remains unknown. Here, we screen synthesize AP1-coumarin, an LD-specific probe, by conjugating a fluorescent dye coumarin to triazine compound AP1. AP1-coumarin labels all stages of LDs in live cells markedly induces the accumulation enlarged RAB5-RAB7 double-positive intermediate endosomes. AP1-coumarin-labeled contact these endosomes, with some even being engulfed them. When LD biogenesis is inhibited, ability label reduced,...
Kaposi's sarcoma (KS) accounts for more than 15% of AIDS-related malignancies. The etiology KS is unresolved but postulated to be multifactorial, involving viruses and overexpression cellular growth factors and/or oncogenes. Recently, herpesvirus-like sequences (KSHV) were identified with high prevalence in AIDS-KS (AKS), endemic KS, classic biopsies (CKS). To confirm the presence KSHV sequences, 18 CKS 13 AKS samples tested using polymerase chain reaction (PCR) analysis. our knowledge this...