| 1 | Bulbosum to Go: A Toolbox to Utilize Hordeum vulgarelbulbosum Introgressions for Breeding and Beyond显示文摘Hordeum bulbosum L. ,大麦(Hordeum vulgare L.) 的一个野亲戚,为大麦改进被看作了基因差异的 valuablesource。自从 1990 年代, barley/H.bulbosum 基因渗入的一个可观的数字排队(IL ) s 被产生了,与从 H.bulbosumharboring 的片断 introgressed 理想的特点的一个多样的集合。然而,这些 IL 的有效利用被妨碍了,主要由于为他们的基因描述的合适的分子的工具的缺乏并且高度在基因渗入的区域减少了种间的再结合频率。在现在的学习,我们为 145 IL 的详细分子的描述利用了 genotyping-by-sequencing。Genotypic 信息在坚定的 IL 和策略的集合以内允许基因差异被构画出处理减少的再结合频率的障碍。而且,我们编了重新定序的 exome 俘获大麦和 H.bulbosum 的信息并且设计了综合 barley/H。有的多型性信息的 bulbosum 顺序资源种间并且 intraspecific 顺序变化两种类。综合顺序将为在 IL 从任何大麦和 H.bulbosum 施主导出的 barley/H.bulbosum 的标记开发是珍贵的。这研究在应用大麦繁殖和学术研究为 barley/H.bulbosum IL 的普遍利用提供工具。 | Neele Wendler Martin Mascher Axel Himmelbach Paul Johnston Richard Pickering Nils Stein | 2015 | Molecular Plant2015，8，10： | 1 |
| 2 | Liver disease epidemiology and burden in patients with alterations in plasma protein metabolism:German retrospective insurance claims analysis显示文摘BACKGROUND Alpha-1 antitrypsin deficiency is a rare genetic disease and a leading cause of inherited alterations in plasma protein metabolism(APPM).AIM To understand the prevalence,burden and progression of liver disease in patients with APPM including alpha-1 antitrypsin deficiency.METHODS We conducted a retrospective analysis of anonymized patient-level claims data from a German health insurance provider(AOK PLUS).The APPM cohort comprised patients with APPM(identified using the German Modification of the International Classification of Diseases-10th Revision[ICD-10-GM]code E88.0 between 01/01/2010-30/09/2020)and incident liver disease(ICD-10-GM codes K74,K70.2-3 and K71.7 between 01/01/2012-30/09/2020).The control cohort comprised patients without APPM but with incident liver disease.Outcomes were incidence/prevalence of liver disease in patients with APPM,demographics/baseline characteristics,diagnostic procedures,progression-free survival(PFS),disease progression and mortality.RESULTS Overall,2680 and 26299 patients were included in the APPM(fibrosis,96;cirrhosis,2584)and control(fibrosis,1444;cirrhosis,24855)cohorts,respectively.Per 100000 individuals,annual incidence and prevalence of APPM and liver disease was 10-15 and 36-51,respectively.In the APPM cohort,median survival was 4.7 years[95%confidence interval(CI):3.5-7.0]and 2.5 years(95%CI:2.3-2.8)in patients with fibrosis and cirrhosis,respectively.A higher proportion of patients in the APPM cohort experienced disease progression(92.0%)compared with the control cohort(67.2%).Median PFS was shorter in the APPM cohort(0.9 years,95%CI:0.7-1.1)compared with the control cohort(3.7 years,95%CI:3.6-3.8;P<0.001).Patients with cirrhosis in the control cohort had longer event-free survival for ascites,hepatic encephalopathy,hepatic failure and esophageal/gastric varices than patients with cirrhosis in the APPM cohort(P<0.001).Patients with fibrosis in the control cohort had longer event-free survival for ascites,cirrhosis,hepatic failure and esophageal/gastric varices than patients with fibrosis in the APPM cohort(P<0.001).In the APPM cohort,the most common diagnostic procedures within 12 mo after the first diagnosis of liver disease were imaging procedures(66.3%)and laboratory tests(51.0%).CONCLUSION Among patients with liver disease,those with APPM experience substantial burden and earlier liver disease progression than patients without APPM. | Nils Picker May Hagiwara Severin Baumann Ed G Marins Thomas Wilke Kaili Ren Ulf Maywald ChitraKarki Pavel Strnad | 2023 | World Journal of Hepatology2023，15，10： | 0 |
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