Search Results - "Judkins, Alexander R."
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Asparagine Plays a Critical Role in Regulating Cellular Adaptation to Glutamine Depletion
Published in Molecular cell (23-10-2014)“…Many cancer cells consume large quantities of glutamine to maintain TCA cycle anaplerosis and support cell survival. It was therefore surprising when RNAi…”
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Timing of Smarcb1 and Nf2 inactivation determines schwannoma versus rhabdoid tumor development
Published in Nature communications (21-08-2017)“…Germline mutations of the SMARCB1 gene predispose to two distinct tumor syndromes: rhabdoid tumor predisposition syndrome, with malignant pediatric tumors…”
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3
Hypoxia Induces Production of L-2-Hydroxyglutarate
Published in Cell metabolism (04-08-2015)“…Somatic mutations in isocitrate dehydrogenase 1 or 2 (IDH1/2) contribute to the pathogenesis of cancer via production of the “oncometabolite”…”
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Efficacy of High-Dose Chemotherapy and Three-Dimensional Conformal Radiation for Atypical Teratoid/Rhabdoid Tumor: A Report From the Children's Oncology Group Trial ACNS0333
Published in Journal of clinical oncology (10-04-2020)“…Atypical teratoid/rhabdoid tumor (AT/RT) is an aggressive, early-childhood brain tumor without standard effective treatment. To our knowledge, we conducted the…”
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Integrated Metabolic and Epigenomic Reprograming by H3K27M Mutations in Diffuse Intrinsic Pontine Gliomas
Published in Cancer cell (14-09-2020)“…H3K27M diffuse intrinsic pontine gliomas (DIPGs) are fatal and lack treatments. They mainly harbor H3.3K27M mutations resulting in H3K27me3 reduction…”
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SMARCA4 loss is synthetic lethal with CDK4/6 inhibition in non-small cell lung cancer
Published in Nature communications (04-02-2019)“…Tumor suppressor SMARCA4 (BRG1) , a key SWI/SNF chromatin remodeling gene, is frequently inactivated in cancers and is not directly druggable. We recently…”
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Evaluation of Histone 3 Lysine 27 Trimethylation (H3K27me3) and Enhancer of Zest 2 (EZH2) in Pediatric Glial and Glioneuronal Tumors Shows Decreased H3K27me3 in H3F3A K27M Mutant Glioblastomas
Published in Brain pathology (Zurich, Switzerland) (01-09-2013)“…H3F3A mutations are seen in ∼30% of pediatric glioblastoma (GBMs) and involve either the lysine residue at position 27 (K27M) or glycine at position 34…”
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Lowered H3K27me3 and DNA hypomethylation define poorly prognostic pediatric posterior fossa ependymomas
Published in Science translational medicine (23-11-2016)“…Childhood posterior fossa (PF) ependymomas cause substantial morbidity and mortality. These tumors lack recurrent genetic mutations, but a subset of these…”
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CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary
Published in Nature communications (04-02-2019)“…Inactivating mutations in SMARCA4 ( BRG1 ), a key SWI/SNF chromatin remodelling gene, underlie small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)…”
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Targeting SWI/SNF ATPases in H3.3K27M diffuse intrinsic pontine gliomas
Published in Proceedings of the National Academy of Sciences - PNAS (02-05-2023)“…Diffuse midline gliomas (DMGs) including diffuse intrinsic pontine gliomas (DIPGs) bearing lysine-to-methionine mutations in histone H3 at lysine 27 (H3K27M)…”
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Genetic Landscape of the Childhood Cancer Medulloblastoma
Published in Science (American Association for the Advancement of Science) (28-01-2011)“…Medulloblastoma (MB) is the most common malignant brain tumor of children. To identify the genetic alterations in this tumor type, we searched for copy number…”
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Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors
Published in Pediatric blood & cancer (01-01-2011)“…Background Germline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous…”
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Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications
Published in Emerging microbes & infections (01-01-2021)“…Mutations in the SARS-CoV-2 Membrane (M) gene are relatively uncommon. The M gene encodes the most abundant viral structural protein, and is implicated in…”
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Nonsense Mutation and Inactivation of SMARCA4 (BRG1) in an Atypical Teratoid/Rhabdoid Tumor Showing Retained SMARCB1 (INI1) Expression
Published in The American journal of surgical pathology (01-06-2011)“…Atypical teratoid/rhabdoid tumors (AT/RTs) are highly aggressive brain tumors of early childhood poorly responding to therapy. The majority of cases show…”
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A sensitive and specific histopathologic prognostic marker for H3F3A K27M mutant pediatric glioblastomas
Published in Acta neuropathologica (01-11-2014)“…Pediatric glioblastomas (GBM) are highly aggressive and lethal tumors. Recent sequencing studies have shown that ~30 % of pediatric GBM and ~80 % of diffuse…”
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Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series
Published in EBioMedicine (01-05-2021)“…There is increasing concern that persistent infection of SARS-CoV-2 within immunocompromised hosts could serve as a reservoir for mutation accumulation and…”
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Tumor-associated macrophages in SHH subgroup of medulloblastomas
Published in Clinical cancer research (15-03-2015)“…Medulloblastoma in children can be categorized into at least four molecular subgroups, offering the potential for targeted therapeutic approaches to reduce…”
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Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country
Published in Frontiers in microbiology (03-09-2020)“…Genomic analysis of SARS-CoV-2 sequences is crucial in determining the effectiveness of prudent safer at home measures in the United States (US). By haplotype…”
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Pathology and diagnosis of SMARCB1-deficient tumors
Published in Cancer genetics (01-09-2014)“…Malignant rhabdoid tumor (MRT) can occur in the kidney, central nervous system, or extracranial/extrarenal locations and is characterized by alterations in the…”
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Epigenetically defined therapeutic targeting in H3.3G34R/V high-grade gliomas
Published in Science translational medicine (13-10-2021)“…High-grade gliomas with arginine or valine substitutions of the histone H3.3 glycine-34 residue (H3.3G34R/V) carry a dismal prognosis, and current treatments,…”
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