994 resultados para Berthez, Armand (18..-1932)


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1932/07/18 (Numéro 19267).

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1932/06/18 (A48,N2409).

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Discontinued numbering with 18.

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Description based on: vol. 18 (1932).

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Hepatitis C virus is a positive-sense single-stranded RNA virus. The gene junction partitioning the viral glycoproteins E1 and E2 displays concurrent sequence evolution with the 3′-end of E1 highly conserved and the 5′-end of E2 highly heterogeneous. This gene junction is also believed to contain structured RNA elements, with a growing body of evidence suggesting that such structures can act as an additional level of viral replication and transcriptional control. We have previously used ultradeep pyrosequencing to analyze an amplicon library spanning the E1/E2 gene junction from a treatment naïve patient where samples were collected over 10 years of chronic HCV infection. During this timeframe maintenance of an in-frame insertion, recombination and humoral immune targeting of discrete virus sub-populations was reported. In the current study, we present evidence of epistatic evolution across the E1/E2 gene junction and observe the development of co-varying networks of codons set against a background of a complex virome with periodic shifts in population dominance. Overtime, the number of codons actively mutating decreases for all virus groupings. We identify strong synonymous co-variation between codon sites in a group of sequences harbouring a 3 bp in-frame insertion and propose that synonymous mutation acts to stabilize the RNA structural backbone.

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Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.

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Two new urostylid ciliates, Metaurostylopsis songi n. sp. and Metaurostylopsis salina n. sp. and Metaurostylopsis marina (Kahl 1932) are investigated using live observation and protargol impregnation. These species were isolated in Korea from intertidal sediments, saline ponds, and coastal waters. Metaurostylopsis songi is in vivo about 120 pm x 25 mu m, has a slenderly ellipsoidal body, colorless cortical granules in rows on ventral and dorsal body sides, about 54 macronuclear nodules, 28-47 adoral membranelles, five frontal, two or three frontoterminal and six or seven transverse cirri, and 9-12 midventral cirral pairs followed posteriorly by 1-3 single cirri. In vivo M. salina is about 60 pin x 25 mu m, has a pyriform body, colorless cortical granules irregularly arranged, about 45 macronuclear nodules, 18-23 adoral membranelles, three frontal, three to five frontoterminal and two to five transverse cirri, and four or five midventral cirral pairs followed posteriorly by five to seven single cirri. Both species have three marginal cirral rows on each body side and 3 long dorsal kineties. The Korean specimens of M. marina match the Chinese population in all main features. Metaurostylopsis songi differs from M. marina by the more slender body, the number of frontal cirri (invariably five vs. four), and the arrangement of cortical granules (in rows on dorsal and ventral cortex vs. only along dorsal kinetics and anterior body margin). Metaurostylopsis salina differs from its congeners by the distinctly smaller size, the pyriform body shape, the scattered cortical granules (vs. in rows), and number of frontal cirri. It differs from M. marina also by the number of midventral cirral pairs (four or five vs. seven to 11).