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41.
42.
Tomatsu S Vogler C Montaño AM Gutierrez M Oikawa H Dung VC Orii T Noguchi A Sly WS 《Molecular genetics and metabolism》2007,91(3):251-258
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), required for degradation of keratan sulfate and chondroitin-6-sulfate. In order to study the effects of a missense mutation in the active site cysteine in the GALNS gene that is conserved in all mammalian sulfatases, we produced a p.C76S (an active site replacement) knock-in mouse by replacing the Cys76 with Ser in the endogenous murine Galns by targeted mutagenesis. Homozygous Galns(tm(C76S)slu) mice had no detectable GALNS enzyme activity. At age of 2-4 months, lysosomal storage was present primarily within reticuloendothelial cells such as Kupffer cells and spleen sinusoidal lining cells. Vacuolar change was present in glomerular visceral epithelial cells and was not present in hepatocytes or renal tubular cells. In the brain, hippocampal and neocortical neurons and meningeal cells showed lysosomal storage. Radiographs revealed no change in the skeletal bones of mice up to 12 months old. Thus, the Galns(tm(C76S)slu) mice had visceral storage of GAGs in organs but lacked the skeletal features of human MPS IVA. In contrast to a previously reported transgenic model (Galns(tm(hC79S.mC76S)slu)), in which the inactive human GALNS transgene was overexpressed, no reduction in other sulfatases was observed. In addition, the Galns(tm(C76S)slu) mice displayed milder storage. We conclude that the milder phenotype is characteristic of isolated GALNS deficiency while the more severe phenotype reflected in the Galns(tm(hC79S.mC76S)slu) mice was due to deficiency of other sulfatases caused by oversaturation of the sulfate modifying enzyme by the inactive human gene product. 相似文献
43.
Salzberg SL Kingsford C Cattoli G Spiro DJ Janies DA Aly MM Brown IH Couacy-Hymann E De Mia GM Dung do H Guercio A Joannis T Maken Ali AS Osmani A Padalino I Saad MD Savić V Sengamalay NA Yingst S Zaborsky J Zorman-Rojs O Ghedin E Capua I 《Emerging infectious diseases》2007,13(5):713-718
To better understand the ecology and epidemiology of the highly pathogenic avian influenza virus in its transcontinental spread, we sequenced and analyzed the complete genomes of 36 recent influenza A (H5N1) viruses collected from birds in Europe, northern Africa, and southeastern Asia. These sequences, among the first complete genomes of influenza (H5N1) viruses outside Asia, clearly depict the lineages now infecting wild and domestic birds in Europe and Africa and show the relationships among these isolates and other strains affecting both birds and humans. The isolates fall into 3 distinct lineages, 1 of which contains all known non-Asian isolates. This new Euro-African lineage, which was the cause of several recent (2006) fatal human infections in Egypt and Iraq, has been introduced at least 3 times into the European-African region and has split into 3 distinct, independently evolving sublineages. One isolate provides evidence that 2 of these sublineages have recently reassorted. 相似文献
44.
Thierry Andre Mayur Amonkar Josephine M Norquist Kai-Keen Shiu Tae Won Kim Benny Vittrup Jensen Lars Henrik Jensen Cornelis J A Punt Denis Smith Rocio Garcia-Carbonero Isabel Sevilla Christelle De La Fouchardiere Fernando Rivera Elena Elez Luis A Diaz Takayuki Yoshino Eric Van Cutsem Ping Yang Dung T Le 《The lancet oncology》2021,22(5):665-677
45.
The role of vitamin D in protecting type 1 diabetes mellitus 总被引:3,自引:0,他引:3
The relationship between autoimmune diabetes or type 1 diabetes mellitus and vitamin D has been reported in the literature. Many factors, environmental and genetic, have been known, as risk factors, to cause both type 1 diabetes and vitamin D deficiency. Vitamin D treatment has improved or prevented type 1 diabetes mellitus in animals and humans. Vitamin D also has been known to protect from autoimmune diseases in animal models. Therefore, it would be interesting to review the role of vitamin D in type 1 diabetes mellitus. 相似文献
46.
47.
Kohli-Kumar M; Morris C; DeLaat C; Sambrano J; Masterson M; Mueller R; Shahidi NT; Yanik G; Desantes K; Friedman DJ 《Blood》1994,84(6):2050-2054
Eighteen patients with Fanconi anemia (FA) with evidence of bone marrow (BM) aplasia underwent allogenic BM transplants (BMT) from matched sibling donors (MSD). Median age at BMT was 7.6 years. Conditioning consisted of low-dose cyclophosphamide (CY; 5 mg/kg x 4 days) and thoracoabdominal irradiation (TAI; 400 cGy). Graft-versus-host disease (GVHD) prophylaxis included cyclosporin A and prednisone. In addition antithymocyte globulin (ATG) was administered in the pretransplant period to promote engraftment and in the posttransplant period for additional GVHD prophylaxis. Engraftment occurred rapidly (median, 12 days for an absolute neutrophil count > or = 0.5 x 10(9)/L; median, 22 days for platelet count > or = 50 x 10(9)/L). Seventeen patients have sustained engraftment and are transfusion-independent, with Lansky scores of 100% at median follow-up of 27 months. One patient developed graft failure 4 months after initial engraftment and required a second BM infusion. None of the patients developed acute GVHD; 3 patients (16%) developed chronic GVHD. BMT is a feasible option for FA patients having an MSD and should be performed at a young age and early in the course of the disease, before the development of complications. We believe the addition of ATG to the transplant regimen of low-dose CY, TAI, and cyclosporin was responsible for improvement in the survival of FA patients undergoing BMT. The regimen was well tolerated and was associated with a low incidence of complications including GVHD. 相似文献
48.
Evaluation of the effect of zoom function on lesion detection by soft‐copy reading of screening mammograms 下载免费PDF全文
49.
Exploring efficient approaches to design electrodes for proton exchange membrane fuel cells (PEMFCs) is of great advantage to overcome the current limitations of the standard platinum supported carbon (Pt/C) catalyst. Herein, a Pt/C electrode consisting of double catalyst layers (DCL) with low Pt loading of around 0.130 mgPt cm−2 is prepared using spray and electrophoresis (EPD) methods. The DCL electrode demonstrated a higher electrochemical surface area (ECSA-52.5 m2 gPt−1) and smaller internal resistance (133 Ω) as compared to single catalyst layer (SCL) sprayed (37.1 m2 gPt−1 and 184 Ω) or EPD (42.4 m2 gPt−1 and 170 Ω) electrodes. In addition, the corresponding DCL membrane electrode assembly (MEA), which consists of a Pt/C DCL electrode at the anode side and a Pt/C sprayed electrode at the cathode side, also showed improved PEMFC performance as compared to others. Specifically, the DCL MEA generated the highest power density of 4.9 W mgPt−1, whereas, the SCL MEAs only produced 3.1 and 3.8 W mgPt−1, respectively. The superior utilization of the Pt catalysts into the DCL MEA can originate from the enrichment of the triple phase boundary (TPB) presented on the Pt/C DCL electrode, which can strongly promote the adsorbed hydrogen intermediates'' removal from the anode side, thus improving the overall PEMFC performance.Pt/C double catalyst layers (DCL), serving as an anodic electrode, have been utilized in a PEMFC application for the first time. 相似文献
50.