A5048610634- RNA modifications and cancer
- Cancer-related gene regulation
- Genetic Syndromes and Imprinting
- Lung Cancer Treatments and Mutations
- Genetics and Neurodevelopmental Disorders
- Cancer Genomics and Diagnostics
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Vaccine Coverage and Hesitancy
- Monoclonal and Polyclonal Antibodies Research
- Autism Spectrum Disorder Research
- Childhood Cancer Survivors' Quality of Life
- Cervical Cancer and HPV Research
- RNA and protein synthesis mechanisms
- MicroRNA in disease regulation
- Rabies epidemiology and control
- Ethics and Legal Issues in Pediatric Healthcare
- Dermatological diseases and infestations
- HER2/EGFR in Cancer Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Venomous Animal Envenomation and Studies
- Genomics and Chromatin Dynamics
- Acute Lymphoblastic Leukemia research
- Hematopoietic Stem Cell Transplantation
- Hepatitis B Virus Studies
Johns Hopkins All Children's Hospital
2016-2022
Johns Hopkins University
2016-2022
University of Kansas Medical Center
2012-2019
University of Colorado Anschutz Medical Campus
2012
University Hospital of Basel
2012
Humanitas University
2012
University of Milan
2012
Ospedale di Livorno
2012
University of Colorado Health
2011
University of Colorado Denver
2009-2011
Abstract Purpose: Oncogenic gene fusions involving the 3′ region of ROS1 kinase have been identified in various human cancers. In this study, we sought to characterize fusion genes non–small cell lung cancer (NSCLC) and establish proteins as drug targets. Experimental Design: An NSCLC tissue microarray (TMA) panel containing 447 samples was screened for rearrangement by FISH. This assay also used screen patients with NSCLC. positive samples, identity partner determined through inverse PCR...
Abstract Prader–Willi syndrome (PWS) is a complex neurodevelopmental disorder characterized by hypotonia, suck and feeding difficulties, hypogonadism, small hands feet, developmental delay, hyperphagia early childhood obesity particular facial appearance. The associated with PWS the result of chronic imbalance between energy intake expenditure (EE) due to hyperphagia, decreased physical activity, reduced metabolic rate an inability vomit. EE affected body composition as well exercise....
Abstract BACKGROUND: Fluorescence in situ hybridization (FISH), using break‐apart red (3′) and green (5′) ALK (anaplastic lymphoma kinase) probes, consistently shows rearrangements <100% of tumor cells ‐positive ( +) nonsmall cell lung cancer (NSCLC). Increased copy numbers fused rearranged signals also occur. Here, correlations are explored between the percentage + signal number their association with response to inhibition. METHODS: Ninety NSCLC cases were evaluated. The positive cells,...
Abstract Objective: To characterize the body composition of Prader‐Willi syndrome (PWS) subjects and compare with simple obesity. Research Methods Procedures: Seventy‐two individuals (27 PWS deletion, 21 uniparental disomy, 24 obese controls) 10 to 49 years old were studied use DXA. Body measures obtained, regional fat lean mass patterns characterized. Significant differences assessed Student's t test ANOVA adjusting for age, gender, BMI. Results: between groups found arms, legs, trunk....
Multiple genetic or molecular alterations are known to be associated with cancer stem cell formation and development. Targeting such alterations, therefore, may lead prevention. By crossing our previously established phosphatase tensin homolog (Pten) - null acute T-lymphoblastic leukemia (T-ALL) model onto the recombination-activating gene 1 −/− background, we show that lack of variable, diversity joining [V(D)J] recombination completely abolishes Tcrα/δ-c-myc translocation T-ALL...
Abstract Prader–Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by loss of paternally expressed genes from the 15q11‐q13 region generally due to paternally‐derived deletion or maternal disomy 15 (UPD). Maternal usually meiosis I non‐disjunction associated with advanced age and after fertilization normal sperm leading trisomy 15, lethal condition unless rescue occurs paternal chromosome 15. To further characterize pathogenesis process in PWS, status X‐chromosome...
After the publication of this paper, it was brought to authors' attention that a proper and updated format acknowledge AGRE is as follows: "We gratefully resources provided by Autism Genetic Resource Exchange (AGRE) Consortium participating families. The program Speaks supported, in part, grant 1U24MH081810 from National Institute Mental Health Clara M. Lajonchere (PI)." authors regret omission thank Dr. Vlad Kustanovich (AGRE Researcher Liaison) for bringing correction our attention.
Prader–Willi syndrome (PWS) is a classic genomic imprinting disorder in which affected individuals display hypotonia, failure to thrive, feeding difficulties, developmental delays and hypogenitalism/hypogonadism infancy. At approximately 2–3 years of age, hyperphagia, central obesity, short stature, small hands feet, behavioral problems characteristic facial features are present [Cassidy, 1984; Butler, 1990; Bittel 2005; Butler et al., 2006]. The genetic causes generally due paternal...
The authors would like to draw the reader's attention a change in authorship following article: Invited Comment—Cortisol Levels Prader–Willi Syndrome Support Changes Routine Care. Am J Med Genet A 149A:138–139. names of two contributors who were initially involved this work, Duane T. Brandau, DO, Ph.D. (now at Rocky Vista University College Osteopathic Medicine) and Mariana Theodoro, BS not included. regret oversight. list should therefore read: Merlin G. Butler, Uttam Garg.
<p>PDF file - 397K, Western blot analysis of signaling pathways in Ba/F3 cells expressing ROS1 gene fusion</p>
<p>PDF file - 42K</p>
<div>Abstract<p><b>Purpose:</b> Oncogenic gene fusions involving the 3′ region of <i>ROS1</i> kinase have been identified in various human cancers. In this study, we sought to characterize fusion genes non–small cell lung cancer (NSCLC) and establish proteins as drug targets.</p><p><b>Experimental Design:</b> An NSCLC tissue microarray (TMA) panel containing 447 samples was screened for rearrangement by FISH. This assay also used...
<div>Abstract<p><b>Purpose:</b> Oncogenic gene fusions involving the 3′ region of <i>ROS1</i> kinase have been identified in various human cancers. In this study, we sought to characterize fusion genes non–small cell lung cancer (NSCLC) and establish proteins as drug targets.</p><p><b>Experimental Design:</b> An NSCLC tissue microarray (TMA) panel containing 447 samples was screened for rearrangement by FISH. This assay also used...
<p>PDF file - 322K, Micrographs of H&E and IHC two squamous cell ROS1 positive cases</p>
<p>PDF file - 68K, Micrographs of H&E and IHC two squamous cell ROS1 positive cases</p>