23 research outputs found

    Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

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    A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk

    Intoxicação por monofluoroacetato em animais

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    Passive Q-switching and mode-locking for the generation of nanosecond to femtosecond pulses

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    Ultrashort-pulse optically-assisted domain engineering in lithium niobate

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    Ultrashort laser pulses (~150-200 fs) of near-ultraviolet (305 nm) to near-infrared (800 nm) wavelengths have been used to optically-assist domain nucleation and growth in lithium niobate. Within illuminated areas, the electric field required for domain nucleation is reduced by up to 41% in undoped and up to 98% in 5-mol% Mg-doped congruently melting materials, allowing direct-writing of inverted domains with electric fields as small as 100 V mm. A first step towards the formation of optically-defined periodically poled lithium niobate was achieved by illumination via a phase mask, demonstrated over small areas with a period of 5.25 microns

    Second harmonic generation enhancement in lithium niobate micro-tips

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    We have observed a substantial enhancement (40 fold) of the non-phase-matched second harmonic generation efficiency in microfabricated ultra-sharp, lithium niobate micro-tip arrays. The fabrication process and the nonlinear characterization is presented

    Femtosecond laser-induced forward transfer for the deposition of nanoscale transparent and solid-phase materials

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    The Laser-Induced Forward Transfer (LIFT) technique [1] exists as a simple method for the direct-writing of a wide range of materials with sub-micron to 100s of microns feature sizes. A thin film of the material to be deposited (the donor) is coated onto one face of a transparent carrier substrate and transferred to another substrate (the receiver) placed some microns away by irradiating the carrier-donor interface through the carrier with a CW or pulsed laser. The process is inherently thermal in nature, with melting and ablation of the donor required to provide the necessary thrust for transferring material. Hence, the technique is not readily applied to the deposition of thermo-sensitive materials
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