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Evaluation of the performance of the IQ‐Check kits and the USDA Microbiology Laboratory Guidebook methods for detection of Shiga toxin‐producing Escherichia coli (STEC) and STEC and Salmonella simultaneously in ground beef 下载免费PDF全文
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GianMarco Ghiggeri Gianluca Caridi Paola Altieri Annalisa Pezzolo Giorgio Gimelli Orsetta Zuffardi 《Human genetics》1993,91(2):175-177
The COL5A1 gene, which encodes the pro 1(V) chain, was recently mapped to 9q34.3 in the same region as the nail-patella locus. This was taken as an indication that the nail-patella syndrome may be an inherited connective tissue disorder. We demonstrate COL5A1 heterozygous deletion and fibroblast under-expression of 1(V) chains in a girl with an unbalanced translocation resulting in 9q32qter monosomy. The patient presents dysplastic nails, a sign typical of nail-patella syndrome, but normal patella. Moreover, she has skin and bone disorders similar to those found in the Goltz syndrome. We suggest that monosomy for the COL5A1 gene is responsible for these connective tissue disorders. Accordingly, the nail-patella syndrome could be attributable to mutations inside the COL5A1 gene rather than to a deletion of it. 相似文献
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Chitrita DebRoy Pina M. Fratamico Xianghe Yan GianMarco Baranzoni Yanhong Liu David S. Needleman Robert Tebbs Catherine D. O'Connell Adam Allred Michelle Swimley Michael Mwangi Vivek Kapur Juan A. Raygoza Garay Elisabeth L. Roberts Robab Katani 《PloS one》2016,11(1)
Escherichia coli strains are classified based on O-antigens that are components of the lipopolysaccharide (LPS) in the cell envelope. O-antigens are important virulence factors, targets of both the innate and adaptive immune system, and play a role in host-pathogen interactions. Because they are highly immunogenic and display antigenic specificity unique for each strain, O-antigens are the biomarkers for designating O-types. Immunologically, 185 O-serogroups and 11 OX-groups exist for classification. Conventional serotyping for O-typing entails agglutination reactions between the O-antigen and antisera generated against each O-group. The procedure is labor intensive, not always accurate, and exhibits equivocal results. In this report, we present the sequences of 71 O-antigen gene clusters (O-AGC) and a comparison of all 196 O- and OX-groups. Many of the designated O-types, applied for classification over several decades, exhibited similar nucleotide sequences of the O-AGCs and cross-reacted serologically. Some O-AGCs carried insertion sequences and others had only a few nucleotide differences between them. Thus, based on these findings, it is proposed that several of the E. coli O-groups may be merged. Knowledge of the O-AGC sequences facilitates the development of molecular diagnostic platforms that are rapid, accurate, and reliable that can replace conventional serotyping. Additionally, with the scientific knowledge presented, new frontiers in the discovery of biomarkers, understanding the roles of O-antigens in the innate and adaptive immune system and pathogenesis, the development of glycoconjugate vaccines, and other investigations, can be explored. 相似文献
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