Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

The Wellcome Trust Case Control Consortium (WTCCC) primary genome-wide association (GWA) scan on seven diseases, including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P < 5 x 10(-7) between T1D and six chromosome regions: 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. Here, we attempted to validate these and six other top findings in 4,000 individuals with T1D, 5,000 controls and 2,997 family trios independent of the WTCCC study. We confirmed unequivocally the associations of 12q24, 12q13, 16p13 and 18p11 (P(follow-up) 相似文献   

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in RNF135, which is within the NF1 microdeletion region, in six families characterized by overgrowth, learning disability, dysmorphic features and variable additional features. These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases.     

Site of formation of Cx-reactive protein

Zusammenfassung Synthese und Stoffwechselfähigkeit von Cx-reaktiven Proteinen in hepatektomierten Kaninchen wurden untersucht. Diese Kaninchen konnten das Protein nicht bilden, sie behielten jedoch die Fähigkeit, es aus ihrem Blutkreislauf auszuscheiden.     

Erythrocytes within pancreatic B-cells of corticosteroid-treated mice.

An ultrastructural study of the endocrine pancreas of female ICR mice that received 21 daily injections of the synthetic glucocorticoid, Triamcinolone diacetate (8 mg/kg b.wt) revealed some examples of microhaemorrhage within islets of Langerhans, extravasation of erythrocytes, and the presence of erythrocytes within B-cells, where they undergo degradation to form myelin-like configurations.     

The emerging roles of ribosomal histidyl hydroxylases in cell biology,physiology and disease

Hydroxylation is a novel protein modification catalyzed by a family of oxygenases that depend on fundamental nutrients and metabolites for activity. Protein hydroxylases have been implicated in a variety of key cellular processes that play important roles in both normal homeostasis and pathogenesis. Here, in this review, we summarize the current literature on a highly conserved sub-family of oxygenases that catalyze protein histidyl hydroxylation. We discuss the evidence supporting the biochemical assignment of these emerging enzymes as ribosomal protein hydroxylases, and provide an overview of their role in immunology, bone development, and cancer.     

Parasites of the bowhead whale, Balaena mysticetus

Blood, tissue, and organ samples from five bowhead whales were examined for ecto- and endoparasites. Two species of protozoans, four genera of diatoms, one species of trematoda, two species of nematoda, and one species of amphipoda "louse" were found. No blood parasites were recovered. The larval anisakid nematode, found in the submucosa of the forestomach of one whale, generated a prominent inflammatory response. Protozoans found in contents of the colon included a flagellate and a sarcodinan. The sarcodinan, which was common in the colon contents of one whale, belongs to the genus Entamoeba and probably represents an undescribed species. Ogomogaster plicatus , a trematode, was also identified. The data from this study are compared with previous lists of parasites for the bowhead whale and two other species of baleen whales. From the results presented, the previous list of parasites for the bowhead whale has been expanded to include eight additional genera and species.     

Chloroplast ultrastructure in the desert shrub Chrysothamnus nauseosus ssp. albicaulis

Ultrastructure of the chloroplasts of white rubber rabbitbrush ( Chrysothamnus nauseosus (Pallas) Britt. ssp. albicaulis ) was observed with electron microscopy. In addition, leaf anatomy was observed with light microscopy. Previously, it had been reported that the leaves of this desert shrub exhibited a relatively high rate of photosynthesis when compared to other C 3 plants. Comparisons with chloroplasts of other C 3 and C 4 plants demonstrated a reduced amount of granal stacking in the rabbitbrush. However, the classification of rabbitbrush as a C 3 plant is confirmed. RUBP-carboxylase concentration is reported at about 450 mg &#183; ml -1 stromal space based on the estimation of 1 mg of chlorophyll per 25 ul of stromal space in a normal C 3 chloroplast and data from an assay to determine the ratio of RUBP-carboxylase to chlorophyll.     

Parasites of Indochinese refugees entering Utah County, Utah: a two-year survey

A survey of parasites from 39 stool specimens taken from 36 Indochinese refugees who are now living in Utah County, Utah, indicated representative intestinal helminths (worms), and protozoans upon clinical examination. .Approximately 75% of the stools contained nematodes, and 55.5% had protozoans. Parasites found were Entamoeba coli, Chilomastix mesnili, Endolimax nana, Giardia lamblia, lodamoeba buetschlii, Clonorchis sinensis, Trichuris trichiura, Ascaris lumbricoides, and Plasinodium vivax. The most common protozoan observed was Entamoeba coli (1979 and 1980) while the most common helminths were Ascaris lumbricoides ) (1979) and Clonorchis sinensis (1980). These data were comparable to studies of refugees at two other laboratories in Utah and one at Washington, D.C.