Search Results - "Busse, Tracy"
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SWI/SNF chromatin remodeling complexes and cancer
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01-09-2014)“…The identification of mutations and deletions in the SMARCB1 locus in chromosome band 22q11.2 in pediatric rhabdoid tumors provided the first evidence for the…”
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OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies
Published in The Journal of molecular diagnostics : JMD (01-11-2018)“…The OncoKids panel is an amplification-based next-generation sequencing assay designed to detect diagnostic, prognostic, and therapeutic markers across the…”
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3
Copy number alterations determined by single nucleotide polymorphism array testing in the clinical laboratory are indicative of gene fusions in pediatric cancer patients
Published in Genes chromosomes & cancer (01-10-2017)“…Gene fusions resulting from structural rearrangements are an established mechanism of tumorigenesis in pediatric cancer. In this clinical cohort, 1,350 single…”
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Disrupting LIN28 in atypical teratoid rhabdoid tumors reveals the importance of the mitogen activated protein kinase pathway as a therapeutic target
Published in Oncotarget (20-02-2015)“…Atypical teratoid rhabdoid tumor (AT/RT) is among the most fatal of all pediatric brain tumors. Aside from loss of function mutations in the SMARCB1…”
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5
Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia
Published in Cancer genetics (01-01-2016)“…Acquired aplastic anemia (aAA) results from the T cell-mediated autoimmune destruction of hematopoietic stem cells. Factors predicting response to immune…”
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6
FE65 Constitutes the Functional Link between the Low-Density Lipoprotein Receptor-Related Protein and the Amyloid Precursor Protein
Published in The Journal of neuroscience (28-04-2004)“…Increasing evidence has implicated the low density lipoprotein receptor-related protein (LRP) and the adaptor protein FE65 in Alzheimer's disease pathogenesis…”
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7
Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors
Published in Cancer genetics (01-04-2014)“…Single nucleotide polymorphism (SNP) array analysis is currently used as a first tier test for pediatric brain tumors at The Children's Hospital of…”
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8
Low-density lipoprotein receptor-related protein promotes amyloid precursor protein trafficking to lipid rafts in the endocytic pathway
Published in The FASEB journal (01-09-2007)“…The major defining pathological hallmark of Alzheimer's disease (AD) is the accumulation of amyloid β protein (Aβ), a small peptide derived from β- and…”
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9
Presenilins Mediate Phosphatidylinositol 3-Kinase/AKT and ERK Activation via Select Signaling Receptors
Published in The Journal of biological chemistry (09-09-2005)“…The Alzheimer's disease-linked genes, PS1 and PS2, are required for intramembrane proteolysis of multiple type I proteins, including Notch and amyloid…”
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Abstract 1384: A comprehensive gene panel for precise diagnosis and treatment of childhood cancer
Published in Cancer research (Chicago, Ill.) (15-07-2016)“…We have created and are validating a targeted gene panel that utilizes 20ng of FFPE DNA and 10 ng of FFPE RNA in a simple, 3-tube Ion AmpliSeq assay suitable…”
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Abstract B45: Development of a next-generation sequencing (NGS) assay for pediatric, childhood, and young adult cancer research with comprehensive DNA and RNA variant detection
Published in Cancer research (Chicago, Ill.) (01-10-2018)“…Introduction: Recurrent somatic alterations associated with pediatric, childhood, and young adult cancers have not been as intensively studied as those…”
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12
OncoKids
Published in The Journal of molecular diagnostics : JMD (01-11-2018)“…The OncoKids panel is an amplification-based next-generation sequencing assay designed to detect diagnostic, prognostic, and therapeutic markers across the…”
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13
The cytoplasmic domain of the LDL receptor-related protein regulates multiple steps in APP processing
Published in The EMBO journal (01-11-2002)“…The low‐density lipoprotein receptor‐related protein (LRP) has recently been implicated in numerous intracellular signaling functions, as well as in…”
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14
Applying the Grossman et al. Theoretical Framework: The Case of Reading
Published in Teachers College record (1970) (01-12-2011)“…Background/Context This article describes the application of the theoretical framework proposed by Grossman and her colleagues to a research effort focusing on…”
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15
Abstract 2977: Most patients with acquired aplastic anemia develop clonal hematopoiesis early in disease
Published in Cancer research (Chicago, Ill.) (01-08-2015)“…Clonal hematopoiesis is an expansion of hematopoietic stem cells, caused by somatic mutations or epigenetic changes that confer a growth advantage to the host…”
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16
Presenilins mediate phosphatidylinositol 3-kinase/AKT and ERK activation via select signaling receptors. Selectivity of PS2 in platelet-derived growth factor signaling
Published in The Journal of biological chemistry (09-09-2005)“…The Alzheimer's disease-linked genes, PS1 and PS2, are required for intramembrane proteolysis of multiple type I proteins, including Notch and amyloid…”
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17
Detection of Gene Fusions in Pediatric Hematologic Malignancies and Solid Tumors With the OncoKids Next Generation Sequencing Based Assay
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29 - Detection of Gene Fusions in Pediatric Hematologic Malignancies and Solid Tumors With the OncoKids Next Generation Sequencing Based Assay
Published in Cancer genetics (01-08-2017)Get full text
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19
High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome
Published in Human mutation (01-01-2011)“…The 22q11 Deletion Syndrome includes the overlapping phenotypes of DiGeorge/Velocardiofacial Syndromes, characterized by conotruncal heart defects, cleft…”
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Applying the Grossman et al. Theoretical Framework: The Case of Reading
Published in Teachers College record (1970) (01-12-2011)“…This article describes the application of the theoretical framework proposed by Grossman and her colleagues to a research effort focusing on text-based…”
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