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1.
M. N. Collinson Andrew M. Fisher Jean Walker Jane Currie Lisa Williams Paul Roberts 《Human genetics》1997,101(2):175-180
We present 33 families in which a pericentric inversion of chromosome 10 is segregating. In addition, we summarise the data
on 32 families in which an apparently identical inv(10) has been reported in the literature. Ascertainment was through prenatal
diagnosis or with a normal phenotype in 21/33 families. In the other 12 families, probands were ascertained through a wide
variety of referral reasons but in all but one case (a stillbirth), studies of the family showed that the reason for referral
was unrelated to the chromosome abnormality. There has been, to our knowledge, no recorded instance of a recombinant chromosome
10 arising from this inversion and no excess of infertility or spontaneous abortion among carriers of either sex. We propose
that inv(10)(p11.2q21.2) can be regarded as a variant analogous to the pericentric inversion of chromosome 2(p11q13). We conclude
that prenatal chromosome analysis is not justified for inv(10) carriers. In addition, family investigation of carrier status
is not warranted in view of the unnecessary concern this may cause parents and other family members.
Received: 7 July 1997 / Accepted: 4 August 1997 相似文献
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Nucleotide sequence of the human polyomavirus AS virus, an antigenic variant of BK virus. 总被引:10,自引:6,他引:4 下载免费PDF全文
The complete DNA sequence of the human polyomavirus AS virus (ASV) is presented. Although ASV can be differentiated antigenically from the other human polyomaviruses (BK and JC viruses), it shares 94.9% homology at the nucleotide level with the Dunlop strain of BK virus. Differences found in ASV relative to BK virus include the absence of tandem repeats in its regulatory region, the deletion of 32 nucleotides in the late mRNA leader region (altering the initiation codon for the agnoprotein), the presence of a cluster of base pair substitutions within the coding region of the major capsid protein, VP1, and the absence of 4 amino acids in the carboxy-terminal region of the early protein, T antigen. The 43 nucleotides deleted in the Dunlop strain of BK virus relative to the Gardner prototype strain of BK virus are present in ASV. Possible reasons for the distinct antigenicity of the ASV capsid, given the high degree of nucleotide homology with BK virus, are discussed. To reflect the high degree of sequence homology between ASV and BK virus, we suggest ASV be renamed BKV(AS). 相似文献
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Detrimental Th17 driven inflammatory and autoimmune disease such as Crohn’s disease, graft versus host disease and multiple sclerosis remain a significant cause of morbidity and mortality worldwide. Multipotent stromal/stem cell (MSC) inhibit Th17 polarization and activation in vitro and in rodent models. As such, MSC based therapeutic approaches are being investigated as novel therapeutic approaches to treat Th17 driven diseases in humans. The significance of naturally occurring diseases in dogs is increasingly recognized as a realistic platform to conduct pre-clinical testing of novel therapeutics. Full characterization of Th17 cells in dogs has not been completed. We have developed and validated a flow-cytometric method to detect Th17 cells in canine blood. We further demonstrate that Th17 and other IL17 producing cells are present in tissues of dogs with naturally occurring chronic inflammatory diseases. Finally, we have determined the kinetics of a canine specific Th17 polarization in vitro and demonstrate that canine MSC inhibit Th17 polarization in vitro, in a PGE2 independent mechanism. Our findings provide fundamental research tools and suggest that naturally occurring diseases in dogs, such as inflammatory bowel disease, may be harnessed to translate novel MSC based therapeutic strategies that target the Th17 pathway. 相似文献
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Low concentrations of sodium dodecyl sulfate have a dramatic effect on the partial proteolytic products obtained by digesting bovine serum albumin with chymotrypsin or trypsin. The effect observed may be important for the interpretation of peptide maps obtained by the method of D. W. Cleveland et al. [(1977) J. Biol. Chem. 252, 1102-1106]. 相似文献