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排序方式: 共有104条查询结果,搜索用时 31 毫秒
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Romano Maurizio; Dri Pietro; Dadalt Liviana; Patriarca Pierluigi; Baralle Francisco E. 《Blood》1997,90(10):4126-4134
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J M Maes D Rousie C Buchet M M Baralle M Donazzan 《Chirurgie; mémoires de l'Académie de chirurgie》1992,118(10):734-9; discussion 739-40
Among the numerous causes of facial neuralgias, the painful dysfunction syndrome of the manducatory apparatus corresponds to a frequent etiology whose thorough study carried out by a multidisciplinary team over about 500 cases allowed their splitting into several evolutive clinical forms. At present, a number of these forms which are particularly painful, require a disk surgery (dislocation reduction, perforation suture, etc.) and if necessary an articular facet surgery (modelling condylectomy, surfacing, etc.). This study specifies the indications and prognosis for these surgical operations. 相似文献
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Organization of the human transferrin gene: direct evidence that it originated by gene duplication. 总被引:11,自引:2,他引:11
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I Park E Schaeffer A Sidoli F E Baralle G N Cohen M M Zakin 《Proceedings of the National Academy of Sciences of the United States of America》1985,82(10):3149-3153
We present the characterization of two overlapping human transferrin genomic clones isolated from a liver DNA library. The two clones represent a total length of 24 kilobase pairs and code for 70% of the protein. The organization of this gene region was elucidated by restriction mapping and DNA sequencing. It contains 12 exons, ranging from 33 to 181 base pairs, separated by introns of 0.7-4.9 kilobase pairs. This gene can be divided into two unequal parts corresponding to the known domains of the protein. Each part is essentially composed of an equal number of exons; introns interrupt the coding sequences, creating homologous exons of similar size in each moiety. Moreover, the pattern of intron interruption of the codon sequence is identical for all the analyzed homologous exon pairs. Comparison with the organization of the ovotransferrin gene shows an identical exon size distribution. These data confirm, at the gene level, the hypothesis that transferrins originated by a gene-duplication event. A model accounting for the origin of the human transferrin gene is presented. 相似文献
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Isolation and characterization of cDNA clones for human and bovine fibronectins. 总被引:23,自引:9,他引:23
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A R Kornblihtt K Vibe-Pedersen F E Baralle 《Proceedings of the National Academy of Sciences of the United States of America》1983,80(11):3218-3222
A bovine fibronectin (FN) cDNA clone (pFB1) was isolated by screening a cDNA library of calf testis fibroblasts with a synthetic oligonucleotide probe. The probe was a mixture of eight 14-base-long oligonucleotides designed from the amino acid sequence Glu-Cys-Phe-Met-Pro present in the Mr 3,000 COOH-terminal fragment of bovine plasma FN [Petersen, T.E., Thøgersen, H.C., Skorstengaard, K., Vibe-Pedersen, K., Sahl, P., Sottrup-Jensen, L. & Magnusson. S. (1983) Proc. Natl. Acad. Sci. USA 80. 137-141]. pFB1 contained a 1,000 base-pair (bp) insert comprising the complete 3' noncoding sequence (690 bp) and approximately equal to 300 bp of the coding region. The clone pFB1 was used as a radioactive probe in the screening of a human cell line (Hs 578T) cDNA library. Eleven positive cDNA clones were detected, one of which, named pFH1, contained a 2,000-bp insert comprising the complete 3' noncoding region (693 bp) and approximately equal to 1,300 bp of the coding region of human FN. The sequences of the clone pFB1 insert and of the homologous region in clone pFH1 were determined. The nucleotide sequences are 90% homologous. Six amino acid changes were found, clustered in an area connecting two structural domains described in bovine plasma FN. Furthermore, the 204 COOH-terminal amino acid sequence of bovine FN was completed by overlapping two peptide fragments (MrS 3,000 and 23,000). Clone pFH1 was used in estimating the size of human fibronectin mRNA (7,900 bases) through blot hybridization analysis. Southern blot studies suggest that human FN is coded by a unique gene. 相似文献
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A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly
Moore et al. [(1997) J Med Genet 70:67-73] and Clayton-Smith et al. [(1997) Clin Dysmorphol 6:291-302] have recently described a new overgrowth syndrome with macrocephaly, cutis marmorata, haemangiomas and digit syndactyly. Other features have included body asymmetry, hydrocephalus requiring shunting and developmental delay. All 22 cases reported are sporadic. We report a further case of this rare syndrome. 相似文献
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