559 resultados para 1534


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Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, linkage analysis supports cosegregation of PLG p.G420D and disease. Genotyping of PLG p.G420D in 14446 patients, and 8797 controls from Canada, France, Spain, Germany, Belgium, and Austria failed to identify significant association with disease (P = 0.117), despite an overall higher prevalence in patients (OR = 1.32; 95% CI = 0.93-1.87). To assess whether additional rare variants have an effect on MS risk, we sequenced PLG in 293 probands, and genotyped all rare variants in cases and controls. This analysis identified nine rare missense variants, and although three of them were exclusively observed in MS patients, segregation does not support pathogenicity. PLG is a plausible biological candidate for MS owing to its involvement in immune system response, blood-brain barrier permeability, and myelin degradation. Moreover, components of its activation cascade have been shown to present increased activity or expression in MS patients compared to controls; further studies are needed to clarify whether PLG is involved in MS susceptibility.

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Mode of access: Internet.

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This is the second of three volumes which comprise Khvandemīr's well known and important general history, completed in 929/1523, which spans the creation of the world up to the death of Shah Ismāʻīl Safavī I. The work includes particularly detailed information about Herat under Sultan Husayn Bayqara, the last Timurid ruler in Herat, as well as Shah Ismāʻīl and Bābur's life. This work has been published in both Persian and English editions.

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The originals (if any) of the 5th and 7th-12th treatises are unknown. cf. Inledning.

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Bd. T 1. Texte 1-254 (1514-1522) -- Bd. T 2. Texte 255-520 (1523-1526) -- Bd. T 3. Texte 521-858 (1527-1529) -- Bd. T 5 Texte 1110-1394 (1531-1533) -- Bd. T 6. Texte 1395-1683 (1534-1535) -- Bd. T.7. Texte 1684-1979 (1536-1537) -- T.13. Texte 3421-3779 (1544) -- T.16. Texte 4530-4790 (Januar-Juni 1547).

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Reprint, with new introduction. Originally published: Lemberg : Leib Rappaport, 1855.

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"Cantate compos"ee pour l'inauguration de la statue de Thierry Martens," 3 l. at end.

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Mode of access: Internet.

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Mode of access: Internet.

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"Durch die direction: graf Theodor Scherer-Boccard ... Friedrich Fiala ... [und] Peter Bannwart."