Search Results - "GENTLE, Dean"
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Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
Published in Nature genetics (01-03-2012)“…Eamonn Maher and colleagues report germline mutations in DIS3L2 causing the Perlman syndrome of overgrowth and susceptibility to Wilms tumor. DIS3L2 encodes a…”
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Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease
Published in PLoS genetics (01-02-2010)“…The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and…”
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3
DNA methylation profiles of long- and short-term glioblastoma survivors
Published in Epigenetics (01-02-2013)“…Glioblastoma (GBM) is the most common and malignant type of primary brain tumor in adults and prognosis of most GBM patients is poor. However, a small…”
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Identification of 5 novel genes methylated in breast and other epithelial cancers
Published in Molecular cancer (05-03-2010)“…There are several high throughput approaches to identify methylated genes in cancer. We utilized one such recently developed approach, MIRA (methylated-CpG…”
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CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma
Published in Molecular cancer (03-06-2009)“…Renal cell carcinoma (RCC) is histopathologically heterogeneous with clear cell and papillary the most common subtypes. The most frequent molecular abnormality…”
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A genome-wide screen identifies frequently methylated genes in haematological and epithelial cancers
Published in Molecular cancer (25-02-2010)“…Genetic as well as epigenetic alterations are a hallmark of both epithelial and haematological malignancies. High throughput screens are required to identify…”
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Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma
Published in Epigenetics (01-03-2012)“…In order to identify novel candidate tumor suppressor genes (TSGs) implicated in renal cell carcinoma (RCC), we performed genome-wide methylation profiling of…”
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Tumor suppressor activity and epigenetic inactivation of hepatocyte growth factor activator inhibitor type 2/SPINT2 in papillary and clear cell renal cell carcinoma
Published in Cancer research (Chicago, Ill.) (01-06-2005)“…Following treatment with a demethylating agent, 5 of 11 renal cell carcinoma (RCC) cell lines showed increased expression of hepatocyte growth factor (HGF)…”
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Mutation Analysis of Hypoxia-inducible Factors HIF1A and HIF2A in Renal Cell Carcinoma
Published in Anticancer research (01-11-2009)“…Background: Inactivation of the Von Hippel-Lindau (VHL) tumour suppressor gene leading to overexpression of hypoxia-inducible transcription factors (HIF)-1α…”
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10
Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility
Published in Endocrine-related cancer (01-02-2011)“…Germline mutations in the von Hippel–Lindau disease (VHL) and succinate dehydrogenase subunit B (SDHB) genes can cause inherited phaeochromocytoma and/or renal…”
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Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma
Published in Endocrine-related cancer (01-09-2008)“…The molecular genetics of inherited phaeochromocytoma have received considerable attention, but the somatic genetic and epigenetic events that characterise…”
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Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights
Published in Human molecular genetics (15-05-2005)“…VPS33B protein is a homologue of the yeast class C vacuolar protein sorting protein Vps33p that is involved in the biogenesis and function of vacuoles. Vps33p…”
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13
Potential role for monocyte chemotactic protein-4 (MCP-4) in monocyte/macrophage recruitment in acute renal inflammation
Published in The Journal of pathology (01-06-2001)“…The CC chemokine, monocyte chemoattractant protein‐4 (MCP‐4), is an important chemoattractant for monocytes and T cells. Recent data indicate a role in renal…”
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Genome-Wide DNA Methylation Profiling of CpG Islands in Breast Cancer Identifies Novel Genes Associated with Tumorigenicity
Published in Cancer research (Chicago, Ill.) (15-04-2011)“…Epigenetic profiling of tumor DNAs may reveal important new theranostic targets to improve prognosis and treatment of advanced cancer patients. In this study,…”
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Protocols for high efficiency, stage-specific retroviral transduction of murine fetal thymocytes and thymic epithelial cells
Published in Journal of immunological methods (01-07-2001)“…Viral vectors have the potential to provide a fast and economic alternative to transgenic methods for manipulating gene expression in studies of immune system…”
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Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma
Published in Cancer discovery (01-07-2015)“…Familial renal cell carcinoma (RCC) is genetically heterogeneous and may be caused by mutations in multiple genes, including VHL, MET, SDHB, FH, FLCN, PTEN,…”
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Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma
Published in Oncogene (08-04-2010)“…Promoter region hyermethylation and transcriptional silencing is a frequent cause of tumour suppressor gene (TSG) inactivation in many types of human cancers…”
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DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma
Published in Epigenetics (01-03-2013)“…Renal cell carcinoma (RCC) accounts for around 3% of cancers in the UK, and both incidence and mortality are increasing with the aging population. RCC can be…”
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Functional epigenetic approach identifies frequently methylated genes in Ewing sarcoma
Published in Epigenetics (01-11-2013)“…Using a candidate gene approach we recently identified frequent methylation of the RASSF2 gene associated with poor overall survival in Ewing sarcoma (ES). To…”
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Methylation profiling and evaluation of demethylating therapy in renal cell carcinoma
Published in Clinical epigenetics (13-09-2013)“…Despite therapeutic advances in targeted therapy, metastatic renal cell carcinoma (RCC) remains incurable for the vast majority of patients. Key molecular…”
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