14 research outputs found

    The Physics of the B Factories

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    The BaBar detector: Upgrades, operation and performance

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    Contains fulltext : 121729.pdf (preprint version ) (Open Access

    Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

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    Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb. Next-generation sequencing of all exons, flanking intron sequences, microRNAs, and other highly conserved genomic elements in these three regions revealed a homozygous nonsense mutation (c.497T>A [p.Leu166*]) in C8orf37, located on chromosome 8q22.1. This mutation was not present in 150 ethnically matched control individuals, single-nucleotide polymorphism databases, or the 1000 Genomes database. Immunohistochemical studies revealed C8orf37 localization at the base of the primary cilium of human retinal pigment epithelium cells and at the base of connecting cilia of mouse photoreceptors. C8orf37 sequence analysis of individuals who had retinal dystrophy and carried conspicuously large homozygous regions encompassing C8orf37 revealed a homozygous splice-site mutation (c.156-2A>G) in two siblings of a consanguineous family and homozygous missense mutations (c.529C>T [p.Arg177Trp]; c.545A>G [p.Gln182Arg]) in siblings of two other consanguineous families. The missense mutations affect highly conserved amino acids, and in silico analyses predicted that both variants are probably pathogenic. Clinical assessment revealed CRD in four individuals and RP with early macular involvement in two individuals. The two CRD siblings with the c.156-2A>G mutation also showed unilateral postaxial polydactyly. These results underline the importance of disrupted ciliary processes in the pathogenesis of retinal dystrophies

    Electroweak measurements in electron–positron collisions at w-boson-pair energies at lep

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    Contains fulltext : 121524.pdf (preprint version ) (Open Access

    Mechanistic principles and applications of resonance energy transfer

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    Resonance energy transfer is the primary mechanism for the migration of electronic excitation in the condensed phase. Well-known in the particular context of molecular photochemistry, it is a phenomenon whose much wider prevalence in both natural and synthetic materials has only slowly been appreciated, and for which the fundamental theory and understanding have witnessed major advances in recent years. With the growing to maturity of a robust theoretical foundation, the latest developments have led to a more complete and thorough identification of key principles. The present review first describes the context and general features of energy transfer, then focusing on its electrodynamic, optical, and photophysical characteristics. The particular role the mechanism plays in photosynthetic materials and synthetic analogue polymers is then discussed, followed by a summary of its primarily biological structure determination applications. Lastly, several possible methods are described, by the means of which all-optical switching might be effected through the control and application of resonance energy transfer in suitably fabricated nanostructures.Key words: FRET, Förster energy transfer, photophysics, fluorescence, laser
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