Search Results - "Kucherlapati, Melanie"
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Examining transcriptional changes to DNA replication and repair factors over uveal melanoma subtypes
Published in BMC cancer (14-08-2018)“…Uncontrolled replication is a process common to all cancers facilitated by the summation of changes accumulated as tumors progress. The aim of this study was…”
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Msh2 acts in medium-spiny striatal neurons as an enhancer of CAG instability and mutant huntingtin phenotypes in Huntington's disease knock-in mice
Published in PloS one (07-09-2012)“…The CAG trinucleotide repeat mutation in the Huntington's disease gene (HTT) exhibits age-dependent tissue-specific expansion that correlates with disease…”
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Global impact of somatic structural variation on the DNA methylome of human cancers
Published in Genome Biology (15-10-2019)“…Genomic rearrangements exert a heavy influence on the molecular landscape of cancer. New analytical approaches integrating somatic structural variants (SSVs)…”
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An Msh2 Conditional Knockout Mouse for Studying Intestinal Cancer and Testing Anticancer Agents
Published in Gastroenterology (New York, N.Y. 1943) (01-03-2010)“…Background & Aims Mutations in the DNA mismatch repair (MMR) gene MSH2 cause Lynch syndromes I and II and sporadic colorectal cancers. Msh2 null mice…”
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A Pan-Cancer Compendium of Genes Deregulated by Somatic Genomic Rearrangement across More Than 1,400 Cases
Published in Cell reports (Cambridge) (10-07-2018)“…A systematic cataloging of genes affected by genomic rearrangement, using multiple patient cohorts and cancer types, can provide insight into cancer-relevant…”
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Mouse models in colon cancer, inferences, and implications
Published in iScience (16-06-2023)“…Mouse models of colorectal cancer (CRC) have been crucial in the identification of the role of genes responsible for the full range of pathology of the human…”
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A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease
Published in Human molecular genetics (15-01-2011)“…Cerebral cavernous malformations (CCMs) are vascular lesions of the central nervous system appearing as multicavernous, blood-filled capillaries, leading to…”
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Mesalazine and thymoquinone attenuate intestinal tumour development in Msh2(loxP/loxP) Villin-Cre mice
Published in Gut (01-12-2015)“…Lynch syndrome is caused by germline mutations in DNA mismatch repair genes leading to microsatellite instability (MSI) and colorectal cancer. Mesalazine,…”
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Genotype directed therapy in murine mismatch repair deficient tumors
Published in PloS one (23-07-2013)“…The PI3K/AKT/mTOR pathway has frequently been found activated in human tumors. We show that in addition to Wnt signaling dysfunction, the PI3K/AKT/mTOR pathway…”
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An EGFR targeted PET imaging probe for the detection of colonic adenocarcinomas in the setting of colitis
Published in Theranostics (01-01-2014)“…Colorectal cancer is a serious complication associated with inflammatory bowel disease, often indistinguishable by screening with conventional FDG PET probes…”
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Adenomatous polyposis coli (APC) is required for normal development of skin and thymus
Published in PLoS genetics (01-09-2006)“…The tumor suppressor gene Apc (adenomatous polyposis coli) is a member of the Wnt signaling pathway that is involved in development and tumorigenesis…”
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A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains
Published in Nature medicine (01-09-2000)“…We explored the role of hypocretins in human narcolepsy through histopathology of six narcolepsy brains and mutation screening of Hcrt, Hcrtr1 and Hcrtr2 in 74…”
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Optical imaging with a novel cathepsin-activatable probe for enhanced detection of colorectal cancer
Published in American journal of nuclear medicine and molecular imaging (01-01-2019)“…We evaluated a cysteine cathepsin-activatable optical imaging probe (LUM015) with improved kinetics relative to larger macromolecules for detection and…”
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MAPRE1 as a plasma biomarker for early-stage colorectal cancer and adenomas
Published in Cancer prevention research (Philadelphia, Pa.) (01-11-2015)“…Blood-based biomarkers for early detection of colorectal cancer could complement current approaches to colorectal cancer screening. We previously identified…”
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Aspirin and low-dose nitric oxide-donating aspirin increase life span in a Lynch syndrome mouse model
Published in Cancer prevention research (Philadelphia, Pa.) (01-05-2011)“…Nonsteroidal anti-inflammatory drugs (NSAID) appear to be effective cancer chemopreventives. Previous cellular studies showed that aspirin (acetylsalicylic…”
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Haploinsufficiency of Flap Endonuclease (Fen1) Leads to Rapid Tumor Progression
Published in Proceedings of the National Academy of Sciences - PNAS (23-07-2002)“…Flap endonuclease (Fen1) is required for DNA replication and repair, and defects in the gene encoding Fen1 cause increased accumulation of mutations and genome…”
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A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease
Published in Human molecular genetics (15-01-2011)Get full text
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Co-expression patterns explain how a basic transcriptional role for MYC modulates Wnt and MAPK pathways in colon and lung adenocarcinomas
Published in Cell cycle (Georgetown, Tex.) (03-08-2022)“…A subset of proliferation genes that are associated with origin licensing, firing, and DNA synthesis has been compared to known drivers of colon (COAD) and…”
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Inactivation of conditional Rb by Villin-cre leads to aggressive tumors outside the gastrointestinal tract
Published in Cancer research (Chicago, Ill.) (01-04-2006)“…We have crossed mice carrying the conditional Rb(tm2Brn) allele with a constitutive Villin-Cre transgenic mouse. The Villin promoter in these animals is highly…”
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