A5073314660- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- Genomics and Chromatin Dynamics
- Prenatal Screening and Diagnostics
- Cancer-related molecular mechanisms research
- HER2/EGFR in Cancer Research
- Circular RNAs in diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Virus-based gene therapy research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Neuroblastoma Research and Treatments
- MicroRNA in disease regulation
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Breast Cancer Treatment Studies
- Nutrition, Genetics, and Disease
- Monoclonal and Polyclonal Antibodies Research
- Sarcoma Diagnosis and Treatment
- Skin and Cellular Biology Research
- Reproductive System and Pregnancy
- Neurogenetic and Muscular Disorders Research
- Salivary Gland Tumors Diagnosis and Treatment
- Chromatin Remodeling and Cancer
Georgetown University
2013-2025
Georgetown University Medical Center
2012-2023
Vince Lombardi Cancer Clinic
2019
National Institute on Aging
2003
National Institute of Neurological Disorders and Stroke
2003
National Human Genome Research Institute
2003
National Institutes of Health
2003
Mayo Clinic in Florida
2003
Mayo Clinic
2003
WinnMed
2003
Impaired Autophagic-Lysosomal Fusion in Parkinson's Patient Midbrain Neurons Occurs through Loss of ykt6 and Is Rescued by Farnesyltransferase Inhibition,
In this study, we analysed gene amplification, RNA expression and protein of the c-myc on archival tissue specimens high-grade human breast cancer, using fluorescent in situ hybridisation (FISH), nonradioactive immunohistochemistry. The specific question that addressed was whether c-Myc mRNA were correlated with its copy as determined by FISH. Although is one most commonly amplified oncogenes few studies have utilised approaches to directly analyse transcription tumour sections. We now...
Abstract Adverse prognosis in Ewing sarcoma (ES) is associated with the presence of metastases, particularly bone, tumor hypoxia and chromosomal instability (CIN). Yet, a mechanistic link between these factors remains unknown. We demonstrate that ES, selectively exacerbates bone metastasis. This process triggered by hypoxia-induced stimulation neuropeptide Y (NPY)/Y5 receptor (Y5R) pathway, which leads to RhoA over-activation cytokinesis failure. These mitotic defects result formation...
Since the early 1990s, there has been a dramatic rise in gastrointestinal cancers diagnosed patients under age 50 for reasons that remain poorly understood. The most significant change increase incidence rates of early-onset colorectal cancer, especially left-sided colon and rectal cancers. Increases gastric, pancreatic, other cancer diagnoses have further contributed to this trend. We formed multidisciplinary Think Tank develop strategic, coordinated approach studying This area research is...
Abstract Using conditional cell reprogramming, we generated a stable culture of an extremely rare and aggressive neuroendocrine cervical cancer. The cultured cells contained HPV-16, formed colonies in soft agar rapidly produced tumors immunodeficient mice. HPV-16 genome was integrated adjacent to the Myc gene, both which were amplified 40-fold. Analysis RNA transcripts detected fusion HPV/Myc genes, arising from apparent microhomologous recombination. Spectral karyotyping (SKY) fluorescent-...
The study sought to identify genetic aberrations driving oral squamous cell carcinoma (OSCC) development among users of shammah, an Arabian preparation smokeless tobacco. Twenty archival OSCC samples, 15 which with a history shammah exposure, were whole-exome sequenced at average depth 127×. Somatic mutations identified using novel, matched controls-independent filtration algorithm. CODEX and Exomedepth coupled Database Genomic Variant-based filter employed call somatic gene-copy number...
Human T-lymphotropic virus type 1 (HTLV-1) is the causative agent of adult T-cell leukemia. The HTLV-1 transactivator, Tax, implicated as viral oncoprotein. Naïve cells expressing Tax for first time develop severe cell cycle abnormalities that include increased DNA synthesis, mitotic arrest, appearance convoluted nuclei with decondensed DNA, and formation multinucleated cells. Here we report causes a drastic reduction in Pds1p/securin Clb2p/cyclin B levels yeast, rodent, human loss...
Abstract Smith–Magenis syndrome (SMS) is a disorder characterized by multiple congenital anomalies and behavior problems, including abnormal sleep patterns. It most commonly due to 3.5 Mb interstitial deletion of chromosome 17 band p11.2. Secretion melatonin, hormone produced the pineal gland, body's signal for nighttime darkness. Published reports 24‐hr melatonin secretion patterns in two independent SMS cohorts (US France) document an inverted endogenous pattern virtually all cases (96%),...
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congenital anomalies. The primarily ascribed to ∼3.7 Mb de novo deletion on chromosome 17p11.2. Haploinsufficiency of genes likely underlies the clinical phenotype. RAI1 (Retinoic Acid Induced 1) recognized as major gene involved in SMS Extensive genetic and analyses 36 patients with SMS-like features, but without 17p11.2 microdeletion, yielded 10 variants, including 4 deleterious mutations, 6 novel...
Abstract Mutations in desmin gene have been identified patients with cardiac and skeletal myopathy characterized by intracytoplasmic accumulation of desmin‐reactive deposits electron‐dense granular aggregates. We two new desminopathy families unusual features adult‐onset, slowly progressive, diffuse respiratory insufficiency. Progressive reduction muscle strength became clinically detectable between the 3rd 8th years illness led to recurrent chest infections death one patients. Novel...
Abstract Greig cephalopolysyndactyly syndrome (GCPS) is caused by haploinsufficiency of GLI3 on 7p13. Features GCPS include polydactyly, macrocephaly, and hypertelorism, may be associated with cognitive deficits abnormalities the corpus callosum. mutations in patients point, frameshift, translocation, gross deletion mutations. FISH STRP analyses were applied to 34 characteristics GCPS. Deletions identified 11 extent their was determined. Nine deletions had mental retardation (MR) or...
Heterozygotic loss of SYK, a non-receptor tyrosine kinase, gives rise to mouse mammary tumor formation where Syk protein levels are reduced by about half; SYK mRNA is correlated with invasive cell behavior in vitro models; and has been distant metastases patients. Here, allelic the gene was explored breast ductal carcinoma situ (DCIS) using fluorescence hybridization pyrosequencing, respectively, infiltrating (IDC) genomic data from The Cancer Genome Atlas (TCGA). Allelic present subset DCIS...
Abstract Anisomastia is a common problem among developing adolescent girls. We recently evaluated 22-yr-old female patient who had severe anisomastia (which been repaired by surgery), associated with moderate to mental retardation, stocky body habitus mild obesity, dysmorphic facies (prominent, upslanting palpebral fissures, beaked nose, and prominent philtrum), webbed neck, low hairline, bilateral clinodactyly of the third, fourth, fifth fingers acral (but not large joint) flexion...
Abstract Smith–Magenis syndrome (SMS) is a mental retardation with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies usually associated an interstitial deletion of chromosome 17p11.2. While high quality G‐banding will identify most SMS patients, fluorescent in situ hybridization (FISH) the recommended test for confirmation diagnosis. Recently, haploinsufficiency RAI1 gene due to or mutation was determined be likely cause SMS. All diagnostic FISH probes...