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101.
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103.
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome) 总被引:4,自引:0,他引:4
Bunge Susanna; Steglich Cordula; Zuther Cornelia; Beck Michael; Morris C. Phillip; Schwinger Eberhard; Schinzel Albert; Hopwood John J.; Gal Andreas 《Human molecular genetics》1993,2(11):1871-1875
Mutations of the iduronate-2-sulfatase gene were identifiedin 16 patients with mucopolysaccharidosis type II (Hunter syndrome).Together with another 10 cases reported by us earlier it emergesthat about 20% of the patients have deletions of the whole geneor other major structural alterations. One, two or three basepair deletions are found in about 23% of the cases while theremaining about 57% carry point mutations predicting amlno acidreplacement, premature termination of translation, or aberrantsplicing. Molecular analysis of mRNA in splice site mutantsshowed that these latter defects frequently resulted in useof cryptic splice sites in exons or introns. 62% of the smalldeletions and point mutations have occurred in 3 of the 9 iduronate-2-sulfatasegene exons. Knowledge of the primary genetic defect allows fastand reliable carrier detection and prenatal diagnosis as wellas insight into the relationship between genotype and phenotype. 相似文献
104.
Eric B. Hekler Jason Rubenstein Elliot J. Coups Suzanne Gilligan Alexander W. Kusnecov Richard J. Contrada Matthew J. Steiner Alan K. Tannenbaum Elaine A. Leventhal and Tyrone J. Krause 《Journal of Applied Biobehavioral Research》2007,12(2):65-81
Inflammatory activity has been associated with both coronary disease and depressive symptoms. We sought to determine whether inflammatory markers in myocardial infarction (MI) patients are prospectively associated with depressive symptomatology. Participants were a convenience sample of MI patients. Depressive symptoms were assessed soon after the MI and again 7 months postdischarge. Inflammatory markers examined were interleukin-6 (IL-6) and interleukin-1β. Results suggest no significant cross-sectional association between inflammatory markers and depressive symptoms at baseline. However, bivariate and multiple regression analyses revealed a significant positive prospective association between baseline IL-6 and depressive symptoms 7 months later ( β = .57, p < .01). The results suggest that temporal considerations are important in understanding relationships between inflammation and depressive symptoms following MI. 相似文献
105.
Tardivel A Tinel A Lens S Steiner QG Sauberli E Wilson A Mackay F Rolink AG Beermann F Tschopp J Schneider P 《European journal of immunology》2004,34(2):509-518
The TNF family ligand B cell-activating factor (BAFF, BLyS, TALL-1) is an essential factor for B cell development. BAFF binds to three receptors, BAFF-R, transmembrane activator and CAML interactor (TACI), and B cell maturation antigen (BCMA), but only BAFF-R is required for successful survival and maturation of splenic B cells. To test whether the effect of BAFF is due to the up-regulation of anti-apoptotic factors, TACI-Ig-transgenic mice, in which BAFF function is inhibited, were crossed with transgenic mice expressing FLICE-inhibitory protein (FLIP) or Bcl-2 in the B cell compartment. FLIP expression did not rescue B cells, while enforced Bcl-2 expression restored peripheral B cells and the ability to mount T-dependent antibody responses. However, many B cells retained immaturity markers and failed to express normal amounts of CD21. Marginal zone B cells were not restored and the T-independent IgG3, but not IgM, response was impaired in the TACI-IgxBcl-2 mice. These results suggest that BAFF is required not only to inhibit apoptosis of maturating B cells, but also to promote differentiation events, in particular those leading to the generation of marginal zone B cells. 相似文献
106.
Angiotensinogen is thought to be an acute-phase protein, since its plasma concentrations increase in response to some inflammatory conditions, e.g. partial hepatectomy, nephrectomy or lipopolysaccharide (LPS) injection. However, this response of angiotensinogen has never been related to that of established acute-phase proteins. We have, therefore, examined plasma concentrations and hepatic secretion of angiotensinogen in two widely used inflammation models, i.e. turpentine or LPS injection in the rat, as well as in nephrectomized and sham-nephrectomized rats, in comparison to the response of two established acute-phase proteins, 1-acid glycoprotein (AGP) and 1-macroglobulin (AMG). Plasma concentrations and secretion rates of AGP and AMG increased significantly in all the conditions examined. The magnitude of the response decreased in the order turpentine > nephrectomy = LPS > sham nephrectomy. Angiotensinogen secretion was stimulated in LPS-injected (2.5-fold) and nephrectomized rats (2.6-fold), whereas no changes were seen in sham-nephrectomized rats. Surprisingly, a significant decrease both in secretion rates and plasma concentrations of angiotensinogen occurred in turpentine-injected rats.Intraperitoneal injection of interleukin 6, a major inductor of hepatic acute-phase proteins, increased plasma concentrations and hepatic secretion rates of AGP, AMG and angiotensinogen. Changes in liver angiotensinogen mRNA correlated well with angiotensinogen secretion rates in all groups, indicating that alterations in angiotensinogen synthesis are responsible for the observed changes in secretion rates and plasma concentrations. The response of angiotensinogen to turpentine is difficult to reconcile with the conventional definition of an acute-phase protein. 相似文献
107.
Transport of organic cations (OC) is important for the recycling of endogenous OC and also a necessary step for detoxification of exogenous OC in the body. Even though the identification and characterisation of numerous OC transporters in recent years has allowed the elucidation of molecular mechanisms underlying OC transport, elucidation of the regulation of this transport is just beginning. This review summarises the general properties of OC transport and then analyses the literature on the regulation of these processes. Studies on short- and long-term regulation of OC transport are considered separately. Important aspects of short-term regulation have been clarified and the regulatory pathways of several OC transporters have been characterised. Short-term regulation appears to be transporter subtype-, tissue- and species-dependent and to involve transporter phosphorylation. Transporter phosphorylation may alter the affinity for substrates or/and expression on the plasma membrane. Even though several studies have shown long-term regulation of OC transport, the pathophysiological meaning of these changes are not well understood. In this case, regulation seems to be subtype-, tissue- and gender-specific. Further research is necessary to clarify this important issue of regulation of OC transport. 相似文献
108.
Steiner I 《Ceskoslovenská patologie》2005,41(1):7-11
The term acute aortic syndrome comprises in addition to classic dissection also two recently described entities--penetrating ulcer and intramural haematoma. Forty-two necropsy cases of acute aortic syndrome were encountered during the last six years--41 dissections and one penetrating ulcer; the intramural haematoma was not seen. According to the DeBakey classification, there were 26 dissections of type I, 8 of type II, 1 of type IIIA, and 4 of type IIIB; in 2 cases the dissection was confined to the abdominal aorta. The dissection had a chronic character in four cases. Aortic rupture was found in 24 cases (59%), most frequently (19x) into the pericardial cavity. The aortic dissection continued into aortic branches in 25 patients (61%), causing stenosis/obstruction of coronary arteries in 7, of branches of the arch in 20, of abdominal arteries in 12, and of renal arteries in 17 patients, respectively. Histologically, there were degenerative lesions of the Erdheim type in the media of 10 aortas (from 21 completely examined). As possible risk factors for aortic dissection there appeared hypertension in 32 patients, anuloaortic ectasia in 11, saccular aneurysm ot the abdominal aorta in 6, family history of dissection in 2, Marfan syndrome in 2, prolaps of the mitral valve in 2, and bicuspid aortic valve in 2 patients, respectively. The aortic dissection was iatrogenic in 7 patients, presenting as a complication of a cardiosurgical or invasive cardiological procedure. 相似文献
109.
The Bloom's Syndrome Registry was published in this journal in 1977. Now, in the first in a series of progress reports, recent accessions to the Registry are recorded, new instances of neoplasia are listed, and recent clinical observations and experimental results of general interest are cited. 相似文献
110.
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome 总被引:1,自引:0,他引:1