about
ZNF198 protein, involved in rearrangement in myeloproliferative disease, forms complexes with the DNA repair-associated HHR6A/6B and RAD18 proteinsNB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastomaThe TACC domain identifies a family of centrosomal proteins that can interact with microtubulesThe oncogenic fusion protein-tyrosine kinase ZNF198/fibroblast growth factor receptor-1 has signaling function comparable with interleukin-6 cytokine receptorsWAVE3-mediated cell migration and lamellipodia formation are regulated downstream of phosphatidylinositol 3-kinaseWAVE3 promotes cell motility and invasion through the regulation of MMP-1, MMP-3, and MMP-9 expressionLGI1, a putative tumor metastasis suppressor gene, controls in vitro invasiveness and expression of matrix metalloproteinases in glioma cells through the ERK1/2 pathwayOncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotypeKnockdown of zebrafish Lgi1a results in abnormal development, brain defects and a seizure-like behavioral phenotypeLoss of zebrafish lgi1b leads to hydrocephalus and sensitization to pentylenetetrazol induced seizure-like behavior.The temporal and spatial expression pattern of the LGI1 epilepsy predisposition gene during mouse embryonic cranial development.Genomic profiling of myeloid sarcoma by array comparative genomic hybridization.HSPA1A is an important regulator of the stability and function of ZNF198 and its oncogenic derivative, ZNF198-FGFR1.Mass spectroscopy identifies the splicing-associated proteins, PSF, hnRNP H3, hnRNP A2/B1, and TLS/FUS as interacting partners of the ZNF198 protein associated with rearrangement in myeloproliferative disease.Ploidy status and copy number aberrations in primary glioblastomas defined by integrated analysis of allelic ratios, signal ratios and loss of heterozygosity using 500K SNP Mapping Arrays.Reexpression of LGI1 in glioma cells results in dysregulation of genes implicated in the canonical axon guidance pathway.Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitabilityGenomic analysis of CD8+ NK/T cell line, 'SRIK-NKL', with array-based CGH (aCGH), SKY/FISH and molecular mapping.A novel member of the WD-repeat gene family, WDR11, maps to the 10q26 region and is disrupted by a chromosome translocation in human glioblastoma cells.Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: a case seriesManipulation of nonsense mediated decay identifies gene mutations in colon cancer Cells with microsatellite instability.Acute progression of BCR-FGFR1 induced murine B-lympho/myeloproliferative disorder suggests involvement of lineages at the pro-B cell stage.Pediatric primary intramedullary spinal cord glioblastomaPhosphorylation of the SSBP2 and ABL proteins by the ZNF198-FGFR1 fusion kinase seen in atypical myeloproliferative disorders as revealed by phosphopeptide-specific MS.TTC4, a novel human gene containing the tetratricopeptide repeat and mapping to the region of chromosome 1p31 that is frequently deleted in sporadic breast cancer.Genome-wide aberrations in pancreatic adenocarcinoma.The EVI5 TBC domain provides the GTPase-activating protein motif for RAB11.Comprehensive analysis of loss of heterozygosity events in glioblastoma using the 100K SNP mapping arrays and comparison with copy number abnormalities defined by BAC array comparative genomic hybridization.Analysis of wilms tumors using SNP mapping array-based comparative genomic hybridization.Functional interrelationship between the WASF3 and KISS1 metastasis-associated genes in breast cancer cells.Genetic analysis of Down syndrome-associated heart defects in mice.Obtaining DNA from a geographically dispersed cohort of current and former smokers: use of mail-based mouthwash collection and monetary incentives.A role for p300/CREB binding protein genes in promoting cancer progression in colon cancer cell lines with microsatellite instabilityDirect isolation of human transcribed sequences from yeast artificial chromosomes through the application of RNA fingerprintingIdentification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes.HIF1A induces expression of the WASF3 metastasis-associated gene under hypoxic conditions.Ponatinib suppresses the development of myeloid and lymphoid malignancies associated with FGFR1 abnormalitiesEagI and NotI linking clones from human chromosomes 11 and Xp.Genetic fingerprinting of the development and progression of T-cell lymphoma in a murine model of atypical myeloproliferative disorder initiated by the ZNF198-fibroblast growth factor receptor-1 chimeric tyrosine kinase.Homozygous inactivation of the LGI1 gene results in hypomyelination in the peripheral and central nervous systems.
P50
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P50
description
hulumtues
@sq
researcher
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wetenschapper
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հետազոտող
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name
John K. Cowell
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John K. Cowell
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John K. Cowell
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John K. Cowell
@nl
John K. Cowell
@sl
type
label
John K. Cowell
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John K. Cowell
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John K. Cowell
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John K. Cowell
@nl
John K. Cowell
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prefLabel
John K. Cowell
@ast
John K. Cowell
@en
John K. Cowell
@es
John K. Cowell
@nl
John K. Cowell
@sl
P106
P1153
7103366403
P21
P31
P496
0000-0002-2079-5950