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41.
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency 总被引:2,自引:0,他引:2
Bachelot A Plu-Bureau G Thibaud E Laborde K Pinto G Samara D Nihoul-Fékété C Kuttenn F Polak M Touraine P 《Hormone research》2007,67(6):268-276
AIMS: Conflicting results exist regarding bone mineral density (BMD), metabolism and reproductive function of adult patients with congenital adrenal hyperplasia (CAH). We evaluated the long-term outcome and the impact of chronic glucocorticoid replacement in these patients. METHODS: Physical characteristics, serum hormone concentrations, BMD and metabolism were studied in 45 consecutive CAH adult patients. RESULTS: Among the 36 women, only 14 (39%) had regular menses. Among the 27 women with classical CAH, the mean number of surgical reconstructions of virilized genitalia was 2.1 +/- 0.2. Twenty of them (74%) were sexually active. Three men presented with testicular adrenal rest tumors. Twenty-five patients (55%) had decreased BMD at the femoral neck and/or at the lumbar spine. BMI was correlated with the BMD T-score at the femoral neck (p < 0.001) and at the lumbar spine (p < 0.01). Hydrocortisone dose was negatively correlated with the BMD T-score at the femoral neck (p = 0.04). Subjects with osteopenia had a significantly lower BMI and received higher hydrocortisone dose than those with normal BMD. Overweight was found in 21 patients (47%). There was a significantly positive correlation between HOMA and BMI (p < 0.001), and between HOMA and 17-OHP levels (p = 0.016). CONCLUSIONS: Adult patients with CAH treated with long-term glucocorticoids are at risk for decreased BMD, increased BMI, and disturbed reproductive function. 相似文献
42.
Lewis SL Khoo PL Andrea De Young R Bildsoe H Wakamiya M Behringer RR Mukhopadhyay M Westphal H Tam PP 《Mechanisms of development》2007,124(2):157-165
Mouse embryos lacking Gsc and Dkk1 function display severe deficiencies in craniofacial structures which are not found in either Dkk1 homozygous null or Gsc homozygous null mutant embryos. Loss of Gsc has a dosage-related effect on the severity of head truncation phenotype in Dkk1 heterozygous embryos. The synergistic effect of these mutations in enhancing head truncation provides direct evidence of a genetic interaction between Gsc and Dkk1, which display overlapping expression in the prechordal mesoderm. In the absence of Gsc activity, the expression of Dkk1, WNT genes and a transgenic reporter for WNT signalling are altered. Our results show that Gsc and Dkk1 functions are non-redundant in the anterior mesendoderm for normal anterior development and Gsc may influence Wnt signalling as a negative regulator. 相似文献
43.
Carola Stribl Aladin Samara Dietrich Trümbach Regina Peis Manuela Neumann Helmut Fuchs Valerie Gailus-Durner Martin Hrabě de Angelis Birgit Rathkolb Eckhard Wolf Johannes Beckers Marion Horsch Frauke Neff Elisabeth Kremmer Sebastian Koob Andreas S. Reichert Wolfgang Hans Jan Rozman Martin Klingenspor Michaela Aichler Axel Karl Walch Lore Becker Thomas Klopstock Lisa Glasl Sabine M. H?lter Wolfgang Wurst Thomas Floss 《The Journal of biological chemistry》2014,289(15):10769-10784
The majority of amyotrophic lateral sclerosis (ALS) cases as well as many patients suffering from frontotemporal lobar dementia (FTLD) with ubiquitinated inclusion bodies show TDP-43 pathology, the protein encoded by the TAR DNA-binding protein (Tardbp) gene. We used recombinase-mediated cassette exchange to introduce an ALS patient cDNA into the mouse Tdp-43 locus. Expression levels of human A315T TDP-43 protein were 300% elevated in heterozygotes, whereas the endogenous mouse Tdp-43 was decreased to 20% of wild type levels as a result of disturbed feedback regulation. Heterozygous TDP-43A315TKi mutants lost 10% of their body weight and developed insoluble TDP-43 protein starting as early as 3 months after birth, a pathology that was exacerbated with age. We analyzed the splicing patterns of known Tdp-43 target genes as well as genome-wide gene expression levels in different tissues that indicated mitochondrial dysfunction. In heterozygous mutant animals, we observed a relative decrease in expression of Parkin (Park2) and the fatty acid transporter CD36 along with an increase in fatty acids, HDL cholesterol, and glucose in the blood. As seen in transmission electron microscopy, neuronal cells in motor cortices of TDP-43A315TKi animals had abnormal neuronal mitochondrial cristae formation. Motor neurons were reduced to 90%, but only slight motoric impairment was detected. The observed phenotype was interpreted as a predisease model, which might be valuable for the identification of further environmental or genetic triggers of neurodegeneration. 相似文献
44.
Ioannou K Samara P Livaniou E Derhovanessian E Tsitsilonis OE 《Cancer immunology, immunotherapy : CII》2012,61(5):599-614
The thymus is a central lymphoid organ with crucial role in generating T cells and maintaining homeostasis of the immune system.
More than 30 peptides, initially referred to as “thymic hormones,” are produced by this gland. Although the majority of them
have not been proven to be thymus-specific, thymic peptides comprise an effective group of regulators, mediating important
immune functions. Thymosin fraction five (TFV) was the first thymic extract shown to stimulate lymphocyte proliferation and
differentiation. Subsequent fractionation of TFV led to the isolation and characterization of a series of immunoactive peptides/polypeptides,
members of the thymosin family. Extensive research on prothymosin α (proTα) and thymosin α1 (Tα1) showed that they are of
clinical significance and potential medical use. They may serve as molecular markers for cancer prognosis and/or as therapeutic
agents for treating immunodeficiencies, autoimmune diseases and malignancies. Although the molecular mechanisms underlying
their effect are yet not fully elucidated, proTα and Tα1 could be considered as candidates for cancer immunotherapy. In this
review, we will focus in principle on the eventual clinical utility of proTα, both as a tumor biomarker and in triggering
anticancer immune responses. Considering the experience acquired via the use of Tα1 to treat cancer patients, we will also
discuss potential approaches for the future introduction of proTα into the clinical setting. 相似文献
45.
Chang W Zaarour RF Reck-Peterson S Rinn J Singer RH Snyder M Novick P Mooseker MS 《RNA (New York, N.Y.)》2008,14(3):491-502
Myo2p is an essential class V myosin in budding yeast with several identified functions in organelle trafficking and spindle orientation. The present study demonstrates that Myo2p is a component of a large RNA-containing complex (Myo2p-RNP) that is distinct from polysomes based on sedimentation analysis and lack of ribosomal subunits in the Myo2p-RNP. Microarray analysis of RNAs that coimmunoprecipitate with Myo2p revealed the presence of a large number of mRNAs in this complex. The Myo2p-RNA complex is in part composed of the RNA processing body (P-body) based on coprecipitation with P-body protein subunits and partial colocalization of Myo2p with P-bodies. P-body disassembly is delayed in the motor mutant, myo2-66, indicating that Myo2p may facilitate the release of mRNAs from the P-body. 相似文献
46.
Dorta DJ Leite S DeMarco KC Prado IM Rodrigues T Mingatto FE Uyemura SA Santos AC Curti C 《Journal of inorganic biochemistry》2003,97(3):251-257
Cadmium is a very important environmental toxicant, the cytotoxicity mechanism of which is likely to involve mitochondria as a target. In the present study we addressed the cause/effect relationship between the multiple cadmium-induced responses involving the mitochondrial energetic and oxidative status. Assays were performed with succinate-energized rat liver mitochondria incubated with 5 microM CdCl(2) for 0-25 min, in the absence or presence, respectively, of N-ethylmaleimide (NEM), butylhydroxytoluene (BHT), ruthenium red (RR), and cyclosporine A+ADP. A sequence of events accounting for cadmium-induced mitochondrial impairment is proposed, beginning with an apparent interaction of Cd(2+) with specific protein thiols in the mitochondrial membrane, which stimulates the cation's uptake via the Ca(2+) uniporter, and is followed by the onset of mitochondrial permeability transition (MPT); both effects dissipate the transmembrane electrical potential (Deltapsi), causing uncoupling, followed by an early depression of mitochondrial ATP levels. The respiratory chain subsequently undergoes inhibition, generating reactive oxygen species which together with iron mobilized by the cation, cause late, gradual mitochondrial membrane lipid peroxidation. 相似文献
47.
48.
Malta Priscila Gonçalves Arcanjo-Silva Samara Ribeiro Cleberson Campos Naiara Viana Azevedo Aristéa Alves 《Plant and Soil》2016,408(1-2):369-384
Plant and Soil - Rudgea viburnoides (Cham.) Benth. is an aluminum (Al) hyperaccumulator species native to the Brazilian Cerrado and can be found on soils with different fertilities and Al... 相似文献
49.
Talita O. Araújo Samara Arcanjo‐Silva Larisse Freitas‐Silva Aristéa A. Azevedo Adriano Nunes‐Nesi 《Physiologia plantarum》2016,157(2):135-146
Arsenic (As) pollution is a major environmental concern due to its worldwide distribution and high toxicity to organisms. The fern Pityrogramma calomelanos is one of the few plant species known to be able to hyperaccumulate As, although the mechanisms involved are largely unknown. This study aimed to investigate the metabolic adjustments involved in the As‐tolerance of P. calomelanos. For this purpose, ferns with five to seven fronds were exposed to a series of As concentrations. Young fronds were used for biochemical analysis and metabolite profiling using gas chromatography–mass spectrometry. As treatment increased the total concentration of proteins and soluble phenols, enhanced peroxidase activities, and promoted disturbances in nitrogen and carbon metabolism. The reduction of the glucose pool was one of the striking responses to As. Remarkable changes in amino acids levels were observed in As‐treated plants, including those related to biosynthesis of glutathione and phenols, osmoregulation and two photorespiratory intermediates. In addition, increases in polyamines levels and antioxidant enzyme activities were observed. In summary, this study indicates that P. calomelanos tolerates high concentration of As due to its capacity to upregulate biosynthesis of amino acids and antioxidants, without greatly disturbing central carbon metabolism. At extremely high As concentrations, however, this protective mechanism fails to block reactive oxygen species production, leading to lipid peroxidation and leaf necrosis. 相似文献
50.
Evaluation of coffee reference genes for relative expression studies by quantitative real-time RT-PCR 总被引:1,自引:0,他引:1
Fernanda Cruz Samara Kalaoun Paula Nobile Carlos Colombo Juliana Almeida Leila M. G. Barros Eduardo Romano Maria Fátima Grossi-de-Sá Maité Vaslin Marcio Alves-Ferreira 《Molecular breeding : new strategies in plant improvement》2009,23(4):607-616
Accuracy in quantitative real-time polymerase chain reaction (qPCR) requires the use of stable endogenous controls. Normalization
with multiple reference genes is the gold standard, but their identification is a laborious task, especially in species with
limited sequence information. Coffee (Coffea ssp.) is an important agricultural commodity and, due to its economic relevance, is the subject of increasing research in
genetics and biotechnology, in which gene expression analysis is one of the most important fields. Notwithstanding, relatively
few works have focused on the analysis of gene expression in coffee. Moreover, most of these works have used less accurate
techniques such as northern blot assays instead of more accurate techniques (e.g., qPCR) that have already been extensively
used in other plant species. Aiming to boost the use of qPCR in studies of gene expression in coffee, we uncovered reference
genes to be used in a number of different experimental conditions. Using two distinct algorithms implemented by geNorm and
Norm Finder, we evaluated a total of eight candidate reference genes (psaB, PP2A, AP47, S24, GAPDH, rpl39, UBQ10, and UBI9) in four different experimental sets (control versus drought-stressed leaves, control versus drought-stressed roots, leaves
of three different coffee cultivars, and four different coffee organs). The most suitable combination of reference genes was
indicated in each experimental set for use as internal control for reliable qPCR data normalization. This study also provides
useful guidelines for reference gene selection for researchers working with coffee plant samples under conditions other than
those tested here.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献