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1.
Nils Milman Niels Graudal Lillian Staub Nielsen Bjørn Mathiassen Palle Tauris Birgit Lund Jørgen Schøler Kristensen Kirsten Fenger 《Human genetics》1990,85(2):228-232
Summary Pedigree studies were performed based on one Faroese and four Danish probands with overt idiopathic hemochromatosis (IH). The study consisted of HLA typing and determination of biochemical iron status indicators (serum transferrin saturation, serum ferritin). In total, 130 persons were evaluated. The screening identified 6 homozygous (h/h) subjects with preclinical IH, 46 heterozygous (h/n), and 8 normal (n/n) subjects, while 39 subjects were classified as normal or heterozygous (n/h?). One family demonstrated both a homozygous x heterozygous as well as a heterozygous x heterozygous mating. Recombination between the HLA region and IH locus occurred possibly in three subjects in three different families. The significance of detailed screening in families with probands with IH is discussed. 相似文献
2.
Nanna Brink Scholz Lars Bolund Mette Nyegaard Louise Faaborg Mette Warming J?rgensen Helle Lund Isa Niemann Lone Sunde 《PloS one》2015,10(11)
Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). We consecutively collected 154 triploid or near-triploid samples from conceptuses with vesicular chorionic villi. We used analysis of DNA markers and/or methylation sensitive-MLPA and collected data from registries and patients records. We performed whole genome SNP analysis of one case of twinning (PP+PM).In all 154 triploids or near-triploids we found two different paternal contributions to the genome (P1P2M). The ratios between the sex chromosomal constitutions XXX, XXY, and XYY were 5.7: 6.9: 1.0. No cases of GTN were observed. Our results corroborate that all triploid human conceptuses with vesicular chorionic villi have the parental type P1P2M. The sex chromosomal ratios suggest approximately equal frequencies of meiosis I and meiosis II errors with selection against the XYY conceptuses or a combination of dispermy, non-disjunction in meiosis I and meiosis II and selection against XYY conceptuses. Although single cases of GTN after a triploid HM have been reported, the results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0% (95% CI: 0–1,4%). 相似文献
3.
W. Frommer L. Archer B. Boon G. Brunius C. H. Collins P. Crooy R. Donikian I. Economidis C. Frontali T. Gaal S. Hamp H. Haymerle P. Krämer H. Lagast H. M. L. Lelieveld M. Th. Logtenberg S. Lund J. L. Mahler F. Normand-Plessier F. Rudan R. Simon G. Tuijnenberg Muijs R. G. Werner 《Applied microbiology and biotechnology》1992,38(2):139-140
The Working Party on Safety in Biotechnology of the European Federation of Biotechnology has proposed a classification of microorganisms that cause diseases in plants. In this paper appropriate safety levels are proposed for these classes of microorganisms in order to ensure that research, development and industrial fermentation work with plant pathogens will limit the risk of outbreaks of diseases in crops that could result from work with such microorganisms when they are cultivated in laboratories, glasshouses and biotechnology installations.Co-opted: J. Dähne, J. Drozd, M. Lemattre, I. M. Smith , E. M. A. WaterschootA Report prepared by the Working Party on Safety in Biotechnology of the European Federation of Biotechnology (EFB)
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4.
Richard W. Joy IV 《In vitro cellular & developmental biology. Plant》1995,31(3):176-177
5.
V. J. Lund 《BMJ (Clinical research ed.)》1995,311(7017):1411-1414
6.
7.
Maria Wilbe Martine Lund Ziener Anita Aronsson Charlotte Harlos Katarina Sundberg Elin Norberg Lisa Andersson Kerstin Lindblad-Toh ?ke Hedhammar G?ran Andersson Frode Lingaas 《PloS one》2010,5(8)
Symmetrical lupoid onychodystrophy (SLO) is an immune-mediated disease in dogs affecting the claws with a suggested autoimmune aethiology. Sequence-based genotyping of the polymorphic exon 2 from DLA-DRB1, -DQA1, and -DQB1 class II loci were performed in a total of 98 SLO Gordon setter cases and 98 healthy controls. A risk haplotype (DRB1*01801/DQA1*00101/DQB1*00802) was present in 53% of cases and 34% of controls and conferred an elevated risk of developing SLO with an odds ratio (OR) of 2.1. When dogs homozygous for the risk haplotype were compared to all dogs not carrying the haplotype the OR was 5.4. However, a stronger protective haplotype (DRB1*02001/DQA1*00401/DQB1*01303, OR = 0.03, 1/OR = 33) was present in 16.8% of controls, but only in a single case (0.5%). The effect of the protective haplotype was clearly stronger than the risk haplotype, since 11.2% of the controls were heterozygous for the risk and protective haplotypes, whereas this combination was absent from cases. When the dogs with the protective haplotype were excluded, an OR of 2.5 was obtained when dogs homozygous for the risk haplotype were compared to those heterozygous for the risk haplotype, suggesting a co-dominant effect of the risk haplotype. In smaller sample sizes of the bearded collie and giant schnauzer breeds we found the same or similar haplotypes, sharing the same DQA1 allele, over-represented among the cases suggesting that the risk is associated primarily with DLA-DQ. We obtained conclusive results that DLA class II is significantly associated with risk of developing SLO in Gordon setters, thus supporting that SLO is an immune-mediated disease. Further studies of SLO in dogs may provide important insight into immune privilege of the nail apparatus and also knowledge about a number of inflammatory disorders of the nail apparatus like lichen planus, psoriasis, alopecia areata and onycholysis. 相似文献
8.
Two enteric pathogens, Campylobacter jejuni and Yersinia enterocolitica serogroup O:3, together with Escherichia coli, were investigated for susceptibility to UV radiation at 254 nm. The UV dose required for a 3-log reduction (99.9% inactivation) of C. jejuni, Y. enterocolitica, and E. coli was 1.8, 2.7, and 5.0 mWs/cm2, respectively. Using E. coli as the basis for comparison, it appears that C. jejuni and Y. enterocolitica serogroup O:3 are more sensitive to UV than many of the pathogens associated with waterborne disease outbreaks and can be easily inactivated in most commercially available UV reactors. No association was found between the sensitivity of Y. enterocolitica to UV and the presence of a 40- to 50-megadalton virulence plasmid. 相似文献
9.
Jennifer S. Lund 《Brain Cell Biology》2002,31(3-5):203-209
It is clear from reviewing the findings of our own studies and those of others that the cerebral cortex has combined two very different strategies of organisation. Firstly it has a strictly defined genetically determined substrate of specific neurons classes, specific rules for which kinds of cells interconnect, a laminar architecture where efferent and afferent relays and interlaminar links are predetermined. But, as well, a second strategy allows great developmental lability in the precise spatial patterns of intralaminar circuits of the excitatory neurons and in the actual weights of excitatory and inhibitory synapses that are contributed to each neuron. This second strategy presumably allows the cortex to be tailor-made to the early experience of each individual and, as well, allow for lability of responses to different conditions of stimulation and adjustment of the system to compensate to some degree for injuries affecting afferents and circuitry in the adult system. 相似文献
10.
Peter Lund 《BioEssays : news and reviews in molecular, cellular and developmental biology》1994,16(4):229-231
The process of protein folding in the cell is now known to depend on the action of other proteins. These proteins include molecular chaperones, Which interact non-covalently with proteins as they fold and improve the final yields of active protein in the cell. The precise mechanism by which molecular chaperones act is obscure. Experiments reported recently(1) show that for one molecular chaperone (Cpn60, typified by the E. coli protein GroEL), the folding reaction is driven by cycles of binding and release of the co-chaperone Cpn10 (known as GroES in E. coli). These alternate with binding and release of the unfolded protein substrate. These cycles come about because of the opposite effects of Cpn10 and unfolded protein on the Cpn60 complex: the former stabilises the ADP-bound state of Cpn60, whereas the latter stimulates ADP-ATP exchange. This model proposes that the substrate protein goes through multiple cycles of binding and release, and is released into the cavity of the Cpn60 complex where it can undergo folding without interacting with other nearby folding intermediates. This is consistent with the ability of Cpn60 proteins to enhance folding by blocking pathways to aggregation. 相似文献