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Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer
Hereditary nonpolyposis colon cancer (HNPCC) is associated with malfunction of postreplicative mismatch repair (MMR). While a majority of HNPCC‐associated mutations in the MMR genes MLH1, MSH2, orExpand
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BRCA1 expression modulates chemosensitivity of BRCA1-defective HCC1937 human breast cancer cells
Germline mutations of the tumour suppressor gene BRCA1 are involved in the predisposition and development of breast cancer and account for 20–45% of all hereditary cases. There is an increasingExpand
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Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer
Several genes have been involved in the pathogenesis of hereditary breast/ovarian cancer (BOC), but mutations in the BRCA1 gene are by far the most recurrent. In this study, we report theExpand
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A Common Mechanism Underlying the E1A Repression and the cAMP Stimulation of the H Ferritin Transcription*
Transcription of the H ferritin gene in vivo is stimulated by cAMP and repressed by the E1A oncoprotein. We report here the identification of the cis-element in the human promoter responsive to bothExpand
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p53-mediated downregulation of H ferritin promoter transcriptional efficiency via NF-Y.
The tumor suppressor protein p53 triggers many of the cellular responses to DNA damage by regulating the transcription of a series of downstream target genes. p53 acts on the promoter of the targetExpand
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Plasma Proteomic Profiling in Hereditary Breast Cancer Reveals a BRCA1-Specific Signature: Diagnostic and Functional Implications
Background Breast cancer (BC) is a leading cause of death among women. Among the major risk factors, an important role is played by familial history of BC. Germ-line mutations in BRCA1/2 genesExpand
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Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.
BRCA1 is a nuclear phosphoprotein that plays a key role in many cell functions, including DNA repair, control of transcription, recombination and cell cycle homeostasis. Inherited missense mutationsExpand
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BRCA1 5083del19 Mutant Allele Selectively Up-Regulates Periostin Expression In vitro and In vivo
Purpose: The aim of this study was to explore the gene expression pattern produced by the cancer-associated BRCA1 5083del19 founder mutation by using a microarray analysis. Such a mutation,Expand
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BRCA1 is required for hMLH1 stabilization following doxorubicin-induced DNA damage.
Human DNA mismatch repair (MMR) is involved in the removal of DNA base mismatches that arise either during DNA replication or are caused by DNA damage. In this study, we show that the activation ofExpand
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Proteomics in Ménière disease
Ménière's disease (MD) is a disorder of the inner ear characterized by an insidious onset and aspecific symptoms, such as dizziness, vertigo, tinnitus, and hearing loss, that may become veryExpand
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