4,590 research outputs found
R.J. Sommers
No full textThe single-spaced paragraph on the “About the Author” page of R.J. Sommers’ latest novel says she lives in a one-story house on the edge of a city. It says she is renowned for writing relatable characters and compelling relationships. It says nothing about her own friends.
Gazing from a photo at the top of the page, R.J. Sommers appears to point a camera toward her readers..
Dinucleotide repeat polymorphism proximal to the spinal muscular atrophy region at D5S681
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Point contact studies of rare earth-transition metal compounds
No full textMechanical point contact techniques have been used to study the spin-dependent properties of rare earth-transition metal compounds and transition metal thin films and bi-layers. The transport spin polarisation of Cu, Co and Fe has been measured using point contact Andreev reflection (PCAR), and found to be in good agreement with previous results. In addition, bi-layers of Co/Y and Co/Cu have been used to
demonstrate suppression of the spin polarisation of the Co underlayer via a nonmagnetic capping layer. The spin diffusion length of Cu has been estimated to be larger than 600nm. The spin polarisation of molecular beam epitaxy (MBE) deposited
RFe2 (R = Dy,Y,Er) Laves phase intermetallic films was determined, and found to be close to that of Fe. This suggests that the spin transport behaviour in these materials is
dominated by the Fe sub-lattice. Preliminary evidence for spin transfer torque effects in an RFe2 multilayer and tri-layer is also presented and discussed. Point contact measurements of an ErFe2/YFe2 multilayer at 4.2K show a step in the differential
resistance at a positive current value. It is suggested that this is due to the formation of a nano-domain beneath the tip. Measurements of a DyFe2/YFe2/DyFe2 tri-layer show
peaks in differential resistance for negative applied currents. This is tentatively attributed to the generation of spin waves within the YFe2 layer
Complex repetitive arrangements of gene sequence in the candidate region of the spinal muscular atrophy gene in 5q13.
No full textChildhood-onset proximal spinal muscular atrophy (SMA) is a heritable neurological disorder, which has been mapped by genetic linkage analysis to chromosome 5q13, in the interval between markers D5S435 and D5S557. Here, we present gene sequences that have been isolated from this interval, several of which show sequence homologies to exons of beta-glucuronidase. These gene sequences are repeated several times across the candidate region and are also present on chromosome 5p. The arrangement of these repetitive gene motifs is polymorphic between individuals. The high degree of variability observed may have some influence on the expression of the genes in the region. Since SMA is not inherited as a classical autosomal recessive disease, novel genomic rearrangements arising from aberrant recombination events between the complex repeats may be associated with the phenotype observed
High-resolution genetic map around the spinal muscular atrophy (SMA) locus on chromosome 5.
No full textAlthough autosomal recessive spinal muscular atrophy (SMA) has been mapped to chromosome 5q12-q13, there is for this region no genetic map based on highly informative markers. In this study we present the mapping of two previously reported microsatellite markers in 40 CEPH and 31 SMA pedigrees. We also describe the isolation of a new microsatellite marker at the D5S112 locus. The most likely order of markers (with recombination fractions given in parentheses) is 5cen-D5S6-(.02)-D5S125-(.04)-(JK53CA1/2,D5S11 2)-(.04)-D5S39-qter. The relative order of D5S6, D5S112, and D5S39 was confirmed by in situ hybridization. Multipoint linkage analysis in 31 SMA families indicates that the SMA locus lies in the 6-cM interval between D5S6 and JK53CA1/2, D5S112
Effect of periconceptional nutrition on the growth, behaviour and survival of the neonatal lamb
No full textAbstract not availableD.O. Kleemann, J.M. Kelly, S.R. Rudiger, I.C. McMillen, J.L. Morrison, S. Zhang, S.M. MacLaughlin, D.H. Smith, R.J. Grimson, K.S. Jaensch, F.D. Brien, K.J. Plush, S. Hiendleder, S.K. Walke
Prenatal prediction of spinal muscular atrophy
No full textSpinal muscular atrophy (SMA) is a common cause of inherited morbidity and mortality in childhood. The wide range of phenotypes in SMA, uncertainty regarding its mode of inheritance, and the suggestion of linkage heterogeneity have complicated the genetic counselling of parents of affected children. The locus responsible for autosomal recessive SMA has been mapped to 5q11.2-q13.3. The most likely order of loci is cen-D5S6-(SMA,D5S125)-(JK53CA1/2,D5S112)-D5S3 9-qter, with highly polymorphic loci being identified at JK53CA1/2 and D5S39. We describe linkage studies with another highly polymorphic locus, D5S127, that is closely linked to D5S39. This genetic map can be used as the basis for genetic counselling in families with autosomal recessive SMA. Appropriate allowance can be made for sporadic cases owing to non-inherited causes and for linkage heterogeneity or misdiagnoses
Fabrication and characterization of tunable polysaccharide hydrogel blends for neural repair
No full textHydrogels are an important class of biomaterials that have the potential to be used as three-dimensional tissue engineering scaffolds for regenerative medicine. This is especially true in the central nervous system, where neurons do not have the ability to regenerate due to the prohibitory local environment following injury. Hydrogels can fill an injury site, replacing the growth-prohibiting environment with a more growth-permissive one. In this study, dextran and chitosan were incorporated into a methylcellulose and agarose hydrogel blend. This created several thermally sensitive polysaccharide hydrogel blends that had tunable mechanical and surface charge properties. Cortical neurons were cultured on the hydrogels to determine the blend that had the greatest neuron compatibility. Our results show that softer, more positively charged polysaccharide hydrogel blends allow for greater neuron attachment and neurite extension, showing their promise as CNS regeneration scaffolds. © 2010 Acta Materialia Inc. Published by Elsevier Ltd. All rights reserved
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