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41.
Joubert syndrome generally represents an autosomal recessive and rarely X-linked disorder characterized by hypotonia, an irregular breathing pattern, abnormal eye movements, ataxia, developmental delay and a complex mid-hindbrain malformation causing the molar tooth sign on magnetic resonance imaging (MRI). Many patients have additional features, with nephronophthisis, retinal dystrophy, coloboma and hepatic fibrosis representing the most frequent features. Due to its clinical variability and overlap with other syndromes, the term “Joubert syndrome and related disorders” (JSRD) was proposed. To date 10 genes are known to cause JSRD. The encoded proteins are localized to cilia, linking JSRD to other human ciliopathies. 相似文献
42.
Maja Nielsen Christian Holst-Fischer Bjørn Malmgren-Hansen Michael Bjerg-Nielsen Caroline Kragelund Henrik Bjarne Møller Lars Ditlev Mørck Ottosen 《Biotechnology letters》2017,39(11):1689-1698
Objective
To assess the effect of small temperature increases in mesophilic sludge-based digesters in order to develop and evaluate strategies for improving the biogas production in full-scale digesters.Results
Methane production was strongly affected by small temperature differences, and this result was consistent across samples from 15 full-scale digesters. The specific methane yield varied between 42 and 97.5 ml g VS?1 after 15 days of incubation at 35 °C, and improved when increasing the digester temperature to 39 °C. Only a limited quantity of additional gas was required to balance out the cost of heating and a positive energy balance was obtained. Further increases in temperature, in some cases, negatively affected the production when operated at 42 °C compared to 39 °C.Conclusions
Small temperature increases should be applied to mesophilic sludge-based digesters to optimize the biogas production and is applicable to digesters operated in the lower mesophilic temperature range.43.
Rick PD; Hubbard GL; Kitaoka M; Nagaki H; Kinoshita T; Dowd S; Simplaceanu V; Ho C 《Glycobiology》1998,8(6):557-567
The polysaccharide chains of enterobacterial common antigen (ECA) consist
of linear trisaccharide repeat units with the structure -->3)-
alpha-d-Fuc4NAc-(1-->4)-beta-d-ManNAcA-(1-->
4)-alpha-d-GlcNAc-(1-->, where Fuc4NAc is 4-acetamido-4,
6-dideoxy-d-galactose, ManNAcA is N - acetyl-d- mannosaminuronic acid, and
GlcNAc is N -acetyl-d-glucosamine. The major form of ECA (ECAPG) consists
of polysaccharide chains that are believed to be covalently linked to
diacylglycerol through phosphodiester linkage; the phospholipid moiety
functions to anchor molecules in the outer membrane. The ECA trisaccharide
repeat unit is assembled as a polyisoprenyl-linked intermediate which has
been tentatively identified as Fuc4NAc-ManNAcA-GlcNAc-
pyrophosphorylundecaprenol (lipid III). Subsequent chain-elongation
presumably occurs by a block-polymerization mechanism. However, the
identity of the polyisoprenoid carrier-lipid has not been established.
Accordingly, the current studies were conducted in an effort to
structurally characterize the polyisoprenyl lipid-carrier involved in ECA
synthesis. Isolation and characterization of the lipid carrier was
facilitated by the accumulation of a ManNAcA-GlcNAc-
pyrophosphorylpolyisoprenyl lipid (lipid II) in mutants of Salmonella
typhimurium defective in the synthesis of TDP-Fuc4NAc, the donor of Fuc4NAc
residues for ECA synthesis. Analyses of lipid II preparations by fast atom
bombardment tandem mass spectroscopy (FAB-MS/MS) resulted in the
identification of the lipid-carrier as the 55-carbon polyisoprenyl alcohol,
undecaprenol. These analyses also resulted in the identification of a novel
glycolipid which copurified with lipid II. FAB-MS/MS analyses of this
glycolipid revealed its structure to be 1,2-diacyl- sn
-glycero-3-pryophosphoryl-GlcNAc-ManNAcA (DGP- disaccharide). An
examination of purified ECAPGby phosphorus-31 nuclear magnetic resonance
spectroscopy confirmed that the polysaccharide chains are linked to
diacylglycerol through phosphodiester linkage. Thus, DGP-disaccharide does
not appear to be an intermediate in ECAPGsynthesis. Nevertheless, although
the available evidence clearly indicate that lipid II is a precursor of
DGP-disaccharide, the function of this novel glycolipid is not yet known,
and it may be an intermediate in the biosynthesis of a molecule other than
ECAPG.
相似文献
44.
Summary The apical portion of the uterine lining of the ovoviviparous fire salamander, Salamandra salamandra, was studied by the freeze-fracture technique in conjunction with the polyene antibiotic filipin. Filipin-sterol complexes were found in the luminal plasmalemma and in the membranes limiting the mucous secretory granules typical of this epithelium. In all females, but particularly in non-pregnant females, more or less discrete clusters of filipinsterol complexes were occasionally found overlying heavily affected secretory granules. The findings are discussed with regard to comparable results (Orci et al. 1980) based on the examination of collapsed and stretched urinary bladders of toads.We are indebted to Mrs. K. Ott for excellent technical assistance, to Miss E.S. MacLure for linguistic corrections and to Dr. J.E. Grady of the Upjohn Co., Kalamazoo, Michigan USA, for kindly providing the filipin 相似文献
45.
Thiesson HC Jensen BL Bistrup C Ottosen PD McNeilly AD Andrew R Seckl J Skøtt O 《American journal of physiology. Regulatory, integrative and comparative physiology》2007,292(1):R625-R636
Downregulation of the renal glucocorticoid-metabolizing enzyme 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD-2) during liver cirrhosis may allow activation of the mineralocorticoid receptor (MR) by glucocorticoids and contribute to sodium retention. We tested this hypothesis in male Wistar rats with decompensated liver cirrhosis and ascites 7 wk after bile duct ligation (BDL). Renal 11beta-HSD-2 mRNA, protein, and activity were significantly decreased in decompensated rats. The urinary Na(+)/K(+) ratio was reduced by 40%. Renal epithelial sodium channel (ENaC) mRNA and immunostaining were only slightly affected. Complete metabolic studies, including fecal excretion, showed that the BDL rats had avid renal sodium retention. Treatment of the BDL rats with dexamethasone suppressed endogenous glucocorticoid production, normalized total sodium balance and renal sodium excretion, and reduced ascites formation to the same degree as direct inhibition of MR with K-canrenoate. Total potassium balance was negative in the BDL rats, whereas renal potassium excretion was unchanged. In the distal colon, expression of ENaC was increased in BDL rats. Fecal potassium excretion was increased in cirrhotic rats, and this was corrected by treatment with K-canrenoate but not dexamethasone. We conclude that development of sodium retention and decompensation in cirrhotic rats is associated with downregulation of renal 11beta-HSD-2 activity and inappropriate activation of renal sodium reabsorption by endogenous glucocorticoids. In addition, the overall potassium loss in the BDL model is due to increased fecal potassium excretion, which is associated with upregulation of ENaC in distal colon. 相似文献
46.
With a life-time prevalence of about 0.5–1.5%, bipolar (manic depressive) disorder represents a common psychiatric disease. Family, twin, and adoption studies have consistently shown that genetic factors contribute to disease development. Genome-wide linkage studies have detected chromosomal regions that are very likely to harbor predisposing genes. Meta-analyses suggest, however, that the genetic contribution of the individual loci must be relatively small which could be one reason for the difficulties in identifying the genes responsible. Very recently, genome-wide association analyses, investigating hundreds of thousands of single nucleotide polymorphisms (SNPs) in phenotypically well-characterized patient and control cohorts, promise a major breakthrough in search of disease-associated genes. 相似文献
47.
48.
Dew Kumari Sharma Juan Olivares Fernández Eva Rosenqvist Carl-Otto Ottosen Sven Bode Andersen 《Journal of plant physiology》2014
The genotypic response of wheat cultivars as affected by two methods of heat stress treatment (treatment of intact plants in growth chambers versus treatment of detached leaves in test tubes) in a temperature controlled water bath were compared to investigate how such different methods of heat treatment affect chlorophyll fluorescence parameters. A set of 41 spring wheat cultivars differing in their maximum photochemical efficiency of photosystem (PS) II (Fv/Fm) under heat stress conditions was used. These cultivars were previously evaluated based on the heat treatment of intact plants. The responses of the same cultivars to heat stress were compared between the two methods of heat treatment. The results showed that in detached leaves, all of the fluorescence parameters remained almost unaffected in control (20 °C at all durations tested), indicating that the detachment itself did not affect the fluorescence parameters. In contrast, heat induced reduction in the maximum photochemical efficiency of PSII of detached leaves occurred within 2 h at 40 °C and within 30 min at 45 °C, and the response was more pronounced than when intact plants were heat stressed for three days at 40 °C. The proportion of total variation that can be ascribed to the genetic differences among cultivars for a trait was estimated as genetic determination. During heat treatment, the genetic determination of most of the fluorescence parameters was lower in detached leaves than in intact plants. In addition, the correlation of the cultivar response in intact plants versus detached leaves was low (r = 0.13 (with expt.1) and 0.02 with expt.2). The most important difference between the two methods was the pronounced difference in time scale of reaction, which may indicate the involvement of different physiological mechanisms in response to high temperatures. Further, the results suggest that genetic factors associated with cultivar differences are different for the two methods of heat treatment. 相似文献
49.
Colin PD Birch Ambrose C Chikukwa Kieran Hyder Victor J Del Rio Vilas 《BMC veterinary research》2009,5(1):1-14
Background
This paper explores the spatial distribution of sampling within the active surveillance of sheep scrapie in Great Britain. We investigated the geographic distribution of the birth holdings of sheep sampled for scrapie during 2002 – 2005, including samples taken in abattoir surveys (c. 83,100) and from sheep that died in the field ("fallen stock", c. 14,600). We mapped the birth holdings by county and calculated the sampling rate, defined as the proportion of the holdings in each county sampled by the surveys. The Moran index was used to estimate the global spatial autocorrelation across Great Britain. The contributions of each county to the global Moran index were analysed by a local indicator of spatial autocorrelation (LISA). 相似文献50.