Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

Several risk factors for Crohn's disease have been identified in recent genome-wide association studies. To advance gene discovery further, we combined data from three studies on Crohn's disease (a total of 3,230 cases and 4,829 controls) and carried out replication in 3,664 independent cases with a mixture of population-based and family-based controls. The results strongly confirm 11 previously reported loci and provide genome-wide significant evidence for 21 additional loci, including the regions containing STAT3, JAK2, ICOSLG, CDKAL1 and ITLN1. The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development.     

Undulating tubules in lymphocytes of an apparently healthy human donor

Summary So-called undulating tubules were found in the blood lymphocytes of an apparently healthy 33-year-old male. Undulating tubules have been noted to occur frequently in kidney cells and blood lymphocytes of patients suffering from collagen diseases and especially from SLE. They have been suggested to be a possibly pathognomonic finding in such diseases. Our result seems to contradict such an association.     

Nectar-sugar concentrations and flower visitors in the western Great Basin

v\:* {behavior:url(#default#VML);} o\:* {behavior:url(#default#VML);} w\:* {behavior:url(#default#VML);} .shape {behavior:url(#default#VML);} Normal 0 false false false EN-US X-NONE X-NONE MicrosoftInternetExplorer4 st1\:*{behavior:url(#ieooui) } /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} Nectar - sugar concentrations and major flower visitors were determined for 15 species of plants in the Eagle Lake area of Northeastern California. Sugar concentrations for 12 of these are reported for the first time, with means ranging from a low of 10 percent in Mentzelia laevicaulis to a high of 63 percent in Ranunculus uncinatus. The utilization of the various nectar concentrations varied with the type of flower visitor as well as with the habitat and distributional ranges of the plant and/or animal. Hummingbirds and hawkmoths were not observed visiting the flowers they typically visit in other areas (e.g. Aquilegia and Ipomopsis, or Oenothera ), but here preferred more concentrated nectar ( Cirsium spp., with mean   of 57 percent sugar). Specialization in nectar use is reported at the generic and specific level in Hymenoptera and Lepidoptera; solitary bees, as a whole, used slightly less concentrated nectar ( mean = 38 percent sugar) than butterflies ( mean = 44 percent sugar).        

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia

Focal dermal hypoplasia (FDH) is an X-linked dominant multisystem birth defect affecting tissues of ectodermal and mesodermal origin. Using a stepwise approach of (i) genetic mapping of FDH, (ii) high-resolution comparative genome hybridization to seek deletions in candidate chromosome areas and (iii) point mutation analysis in candidate genes, we identified PORCN, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH. The findings implicate FDH as a developmental disorder caused by a deficiency in PORCN.     

Histidine decarboxylase and DOPA decarboxylase in the stomach of the developing rat

Zusammenfassung Im Magen der fötalen Ratte erreicht die Dopadecarboxylase-Aktivität 19 Tage nach der Paarung Werte, die den Aktivitätswerten des erwachsenen Tieres entsprechen. Die Aktivität bleibt auch während der weiteren Entwicklung hoch. Die Histidindecarboxylase des fötalen Rattenmagens ist während der embryonalen Entwicklung hoch, aber die Aktivitätswerte fallen bei der Geburt zu nicht messbaren Werten ab. Ungefähr 8 Tage post partum steigt die Histidindecarboxylase des Magens wieder an und erreicht einen Monat nach der Geburt Werte, die den Aktivitätswerten des erwachsenen Tieres entsprechen. In der jungen Ratte wird die Magenhistidindecarboxylase weder durch Gastrininjektion noch durch Hungern beeinträchtigt. Vom 18. Tag nach der Geburt an kann die Enzymaktivität durch Hungern verringert und durch Gastrin wieder erhöht werden.     

用系统分析法研究江西省能源科技发展战略和措施

本文用层次分析法(AHP)研讨了江西省能源科技发展战略和措施,并根据模型的计算结果,提出了一些建议。     

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

Here we perform whole-exome sequencing of samples from 105 individuals with chronic lymphocytic leukemia (CLL), the most frequent leukemia in adults in Western countries. We found 1,246 somatic mutations potentially affecting gene function and identified 78 genes with predicted functional alterations in more than one tumor sample. Among these genes, SF3B1, encoding a subunit of the spliceosomal U2 small nuclear ribonucleoprotein (snRNP), is somatically mutated in 9.7% of affected individuals. Further analysis in 279 individuals with CLL showed that SF3B1 mutations were associated with faster disease progression and poor overall survival. This work provides the first comprehensive catalog of somatic mutations in CLL with relevant clinical correlates and defines a large set of new genes that may drive the development of this common form of leukemia. The results reinforce the idea that targeting several well-known genetic pathways, including mRNA splicing, could be useful in the treatment of CLL and other malignancies.