Search Results - "FINEBERG, Elena"
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Placentation defects are highly prevalent in embryonic lethal mouse mutants
Published in Nature (London) (22-03-2018)“…Large-scale phenotyping efforts have demonstrated that approximately 25–30% of mouse gene knockouts cause intrauterine lethality. Analysis of these mutants has…”
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Maternal DNA Methylation Regulates Early Trophoblast Development
Published in Developmental cell (25-01-2016)“…Critical roles for DNA methylation in embryonic development are well established, but less is known about its roles during trophoblast development, the…”
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SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson’s disease
Published in Brain (London, England : 1878) (01-07-2010)“…The pre-synaptic protein α-synuclein is the main component of Lewy bodies and Lewy neurites, the defining neuropathological characteristics of Parkinson’s…”
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A Critical Role of TET1/2 Proteins in Cell-Cycle Progression of Trophoblast Stem Cells
Published in Stem cell reports (10-04-2018)“…The ten-eleven translocation (TET) proteins are well known for their role in maintaining naive pluripotency of embryonic stem cells. Here, we demonstrate that,…”
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Identification of molecular genetic contributants to canine cutaneous mast cell tumour metastasis by global gene expression analysis
Published in PloS one (19-12-2018)“…Cutaneous mast cell tumours are one of the most common canine cancers. Approximately 25% of the tumours metastasise. Activating c-kit mutations are present in…”
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A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers
Published in PLoS genetics (22-03-2019)“…Mast cell tumours are the most common type of skin cancer in dogs, representing a significant concern in canine health. The molecular pathogenesis is largely…”
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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE
Published in JNCI : Journal of the National Cancer Institute (05-06-2013)“…Reliable estimates of cancer risk are critical for guiding management of BRCA1 and BRCA2 mutation carriers. The aims of this study were to derive penetrance…”
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Deciphering the mechanisms of developmental disorders: phenotype analysis of embryos from mutant mouse lines
Published in Nucleic acids research (04-01-2016)“…The Deciphering the Mechanisms of Developmental Disorders (DMDD) consortium is a research programme set up to identify genes in the mouse, which if mutated (or…”
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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
Published in PLoS genetics (01-03-2013)“…Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through…”
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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers
Published in PLoS genetics (01-04-2014)“…Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of…”
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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers
Published in PloS one (01-04-2015)“…While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may…”
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Lymphocyte Telomere Length Is Long in BRCA1 and BRCA2 Mutation Carriers Regardless of Cancer-Affected Status
Published in Cancer epidemiology, biomarkers & prevention (01-06-2014)“…Telomere length has been linked to risk of common diseases, including cancer, and has previously been proposed as a biomarker for cancer risk. Germline BRCA1…”
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