about
A guide for functional analysis of BRCA1 variants of uncertain significanceThe calcium pump plasma membrane Ca(2+)-ATPase 2 (PMCA2) regulates breast cancer cell proliferation and sensitivity to doxorubicin.SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancerComparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testingIdentification and characterization of a novel melanoma tumor suppressor gene on human chromosome 6q21.Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.Constitutional methylation of the BRCA1 promoter is specifically associated with BRCA1 mutation-associated pathology in early-onset breast cancer.Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicityExpression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors.Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicityFine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.Localization of plasma membrane and secretory calcium pumps in the mammary gland.Dynamic interactions between the promoter and terminator regions of the mammalian BRCA1 geneFunctional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers.The voltage gated Ca(2+)-channel Cav3.2 and therapeutic responses in breast cancerPre-mRNA splicing aberrations and cancer.Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristicsBRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.Long-range regulators of the lncRNA HOTAIR enhance its prognostic potential in breast cancer.Methylome sequencing in triple-negative breast cancer reveals distinct methylation clusters with prognostic value.Non-coding RNAs in Mammary Gland Development and Disease.Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site.ORAI1-mediated calcium influx in lactation and in breast cancer.Regulation of BRCA1 messenger RNA stability in human epithelial cell lines and during cell cycle progression.Prediction of BRCA1 and BRCA2 mutation status using post-irradiation assays of lymphoblastoid cell lines is compromised by inter-cell-line phenotypic variability.Disruption of BRCA1 function results in telomere lengthening and increased anaphase bridge formation in immortalized cell lines.Roles of heterogeneous nuclear ribonucleoproteins A and B in cell proliferation.Towards cloning the familial breast-ovarian cancer gene on chromosome 17.Germline BRCA1 promoter deletions in UK and Australian familial breast cancer patients: Identification of a novel deletion consistent with BRCA1:psiBRCA1 recombination.Studies on inherited cancers: outcomes and challenges of 25 years.Distinct transcription start sites generate two forms of BRCA1 mRNA.Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers.Targeted disruption of Brca1 in restricted compartments of the mouse mammary epithelia.Alternatively spliced RNAs encode several isoforms of CD46 (MCP), a regulator of complement activation.Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.eLCR: electrochemical detection of single DNA base changes via ligase chain reaction.Method for the generation and cultivation of functional three-dimensional mammary constructs without exogenous extracellular matrix.
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description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Melissa A Brown
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Melissa A Brown
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Melissa A Brown
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Melissa A Brown
@nl
Melissa A Brown
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type
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Melissa A Brown
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Melissa A Brown
@en
Melissa A Brown
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Melissa A Brown
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Melissa A Brown
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Melissa Brown
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prefLabel
Melissa A Brown
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Melissa A Brown
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Melissa A Brown
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Melissa A Brown
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Melissa A Brown
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P106
P1280
P21
P31
P496
0000-0002-2830-9259