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Role of the 807 C T polymorphism of the α₂ gene in platelet GP Ia collagen receptor expression and function -: Effect in thromboembolic diseases

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THROMBOSIS AND HAEMOSTASIS 1999年第6期81卷 951-956页

作者： Corral, J González-Conejero, R Rivera, J Ortuño, F Aparicio, P Vicente, V Hosp Gen Univ Sch Med Unit Oncohematol & Hemotherapy Murcia Spain Hosp Gen Univ Sch Med Dept Biochem Murcia Spain

The variability of the platelet GP Ia/IIa density has been associated with the 807 C/T polymorphism (Phe 224) of,the GP Ia gene in American Caucasian population. We have investigated the genotype and allelic frequencies of this polymorphism in Spanish Caucasians. The T allele was found in 35% of the 284 blood donors analyzed. We confirmed in 159 healthy subjects a significant association between the 807 C/T polymorphism and the platelet GP Ia density. The T allele correlated with high number of GP Ia molecules on platelet surface. In addition, we observed a similar association of this polymorphism with the expression of this protein in other brood cell types. The platelet responsiveness to collagen was determined by "in vitro" analysis of the platelet activation and aggregation response. We found no significant differences in these functional platelet parameters according to the 807 CIT genotype. Finally, results from 3 case/control studies involving 302 consecutive patients (101 with coronary heart disease, 104 with cerebrovascular disease and 97 with deep venous thrombosis) determined that the 807 CIT polymorphism of the GP Ia gene does not represent a risk factor for arterial or venous thrombosis.

关键词：抗原 CD/血液抗原 CD/遗传学冠心病/血液冠心病/遗传学欧洲大陆世系人群整合素α2 整合素类/遗传学突变血小板活化/遗传学多态现象遗传受体胶原危险因素血栓栓塞/血液血栓栓塞/遗传学老年人女(雌)性人类男(雄)性中年人

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The Bavarian thromboembolie risk cohort study(BATER)

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DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT 2000年第1-2期125卷 2-6页

作者： Schramm, W Heinemann, LA Spannagl, M Dick, A Assmann, A Univ Munich Med Klin Innenstadt Abt Hamostaseol Munich Germany ZEG Zentrum Epidemiol & Gesundheitsforsch Berlin Germany Inst Pharmakoepidemiol & Technologiebewertung Berlin Germany

Objective: Familiar venous thromboembolic disease (VTE) is known to be related with factor V Leiden mutation (RVL), but also with other genetic markers. It is the objective to investigate of the BATER-study in a representative Bavarian cohort, and to assess whether they could predict VTE events. This paper shortly describes the study protocol, gives an overview of planned substudies, and provides first results of the historic cohort analysis. Patients and methods: The baseline survey of the cohort study of Bavarian women aged 18-49 years (random sample from the population) was performed in two samples in 1996 and 1997. It was planned to estimate prevalence and predictive value of potential markers of VTE in a historic - prospective as well as concurrent approach with annual follow-up of the cohort. This representative cohort should build a basis for nested case-control studies and serve as a reference group for other analytical epidemiological studies in young women. 1685 women were ascertained (response rate 61%), underwent an inquiry, and provided blood samples for a blood bank;for this paper, complete data are available from 1650 women. Labaratory parameters were measured to determine APC resistance, FVL-mutation, anti-thrombin-, protein C and S deficiency, and were correlated to the results of a detailed, life-time history of thrombembolic events. Results: The prevalence of FVL mutation in the sample was 5.7% (95% confidence interval 4.6-6.6%). Other genetic VTE risk markers were observed to be less frequent than 1%. The positive predictive value (pPV) of FVL mutation for a VTE event is about 7%, but for a positive family history of VTE (first grade relatives) 3% only. Conclusions: VTE events are rare in the German population of young women, even in cases of FVL mutation. A positive family history is rarely associated with the occurrence of VTE in women under 50 years of age, and the predictive value of FVL mutation is low. Therefore, a screening for FVL mutatio

关键词：饮酒临床方案队列研究置信区间避孕药口服因子Ⅴ/遗传学德国/流行病学产次点突变危险因素吸烟血栓栓塞/流行病学血栓栓塞/遗传学静脉血栓形成/流行病学静脉血栓形成/遗传学青少年成年人女(雌)性人类中年人

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Effect of exogenous estrogen on atherothrombotic vascular disease risk related to the presence or absence of the Factor V Leiden mutation (resistance to activated protein C)

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AMERICAN JOURNAL OF CARDIOLOGY 1999年第5期84卷 549-554页

作者： Glueck, CJ Wang, P Fontaine, RN Tracy, T Sieve-Smith, L Lang, JE Jewish Hosp Cincinnati Ctr Cholesterol Cincinnati OH 45229 USA

Estrogen replacement therapy (ERT), which produces acquired resistance to activated protein C when superimposed on heritable resistance to activated protein C (the mutant Factor V Leiden trait), may promote venous and arterial thrombosis. In a cross-sectional study of 423 women referred for hyperlipidemic therapy (93 of whom [22%] were on ERT), our specific aim was to determine whether ERT and heterozygosity for the Factor V Leiden mutation and/or resistance to activated protein C interacted as risk factors for atherothrombosis. Of the 423 women, 168 (40%) had atherothrombosis, 19 (4%) were heterozygous for Factor V Leiden mutation or had resistance to activated protein C <2 (Factor V Leiden mutation+), and 404 were wild-type normal for the Factor V gene and/or had resistance to activated protein C greater than or equal to 2 (Factor V Leiden mutation-). By stepwise logistic regression, positive explanatory variables for atherothrombosis included hypertension (p = 0.002), age (p = 0.003), relatives with atherothrombosis (p = 0.002), anticardiolipin antibody immunoglobulin-M (p = 0.02), and a Factor V Leiden mutation*ERT interaction term where atherothrombosis events were more likely in 2 subgroups of women (ERT- and Factor V Leiden mutation-) or (ERT+ and Factor V Leiden mutation+) (p = 0.02). High-density lipoprotein cholesterol was inversely associated with atherothrombosis (p = 0.004). In a separate logistic regression model for the 213 women with a polymerase chain reaction measurement of the Factor V gene, ERT was protective (p = 0.008);the Factor V Leiden mutation was positively associated with atherothrombosis (p = 0.05). The atherothrombosis odds ratio risk for ERT (yes vs no) was 0.36 (95% confidence intervals [CI] 0.16 to 0.74, p = 0.007). The atherothrombosis risk odds ratio in women heterozygous for the Factor V Leiden mutation (vs normal) was 2.00 (95% CI 1.02 to 4.22, p = 0.05). ERT may be protective against atherothrombosis when the Factor V Leiden mut

关键词：活化蛋白C抵抗/遗传学动脉硬化/遗传学动脉硬化/预防和控制横断面研究雌激素替代疗法/禁忌证因子Ⅴ/遗传学遗传筛查杂合子检测高胆固醇血症/血液高胆固醇血症/遗传学脂类/血液点突变/遗传学聚合酶链反应危险血栓栓塞/遗传学血栓栓塞/预防和控制老年人女(雌)性人类中年人

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The role of inherited thrombophilia in venous thromboembolism associated with pregnancy

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BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY 1999年第8期106卷 756-766页

作者： McColl, MD Walker, ID Greer, IA Univ Glasgow Glasgow Royal Infirm Dept Obstet & Gynaecol Glasgow G12 8QQ Lanark Scotland

Venous thromboembolism is an important cause of maternal morbidity and mortality. The puerperium should be regarded as the period of greatest risk. However, fatalities in early pregnancy emphasise the need to assess thrombotic risk at all stages of pregnancy. In many cases those at increased risk are potentially identifiable on clinical grounds alone such as those with a personal or family history of venous thromboembolism, obesity, or surgery. Identification of women with multiple clinical risks for thrombosis during pregnancy remains the key to reducing the incidence of this condition. In women who present with a personal or family history of proven venous thromboembolism, thrombophilia screening should be performed in early pregnancy, since the results may influence subsequent management during pregnancy. The investigation and management of patients considered at increased risk of venous thrombosis during pregnancy requires close liaison between obstetricians and haematologists familiar with this rapidly expanding and complex field of thrombophilia.

关键词：活化蛋白C抵抗/遗传学因子Ⅴ/遗传学疾病遗传易感性高同种半胱氨酸血症/遗传学突变/遗传学妊娠并发症心血管/死亡率凝血酶原/遗传学危险因素血栓栓塞/并发症血栓栓塞/遗传学血栓栓塞/死亡率血栓形成倾向/并发症血栓形成倾向/遗传学女(雌)性人类妊娠

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Cardiovascular implications of the factor V Leiden mutation

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AMERICAN HEART JOURNAL 2000年第2期140卷 189-195页

作者： Major, DA Sane, DC Herrington, DM Wake Forest Univ Bowman Gray Sch Med Dept Internal Med Cardiol Winston Salem NC 27157 USA

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Thrombomodulin gene defects in families with thromboembolic disease -: A report on four families

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THROMBOSIS AND HAEMOSTASIS 1999年第3期81卷 338-344页

作者： Öhlin, AK Marlar, RA Univ Lund Hosp Dept Clin Chem Inst Lab Med S-22185 Lund Sweden Univ Colorado Sch Med & Lab Serv Denver Vet Affairs Med Ctr Dept Pathol Denver CO 80202 USA

It has been suggested that an impaired thrombomodulin (TM) function could constitute an abnormality leading to thromboembolic disease (TED). The TM gene from 51 unrelated American patients with TED and 100 American blood donors was screened for mutations. Four heterozygous point mutations in the TM gene were detected. The mutations are distributed throughout the TM gene and predict amino acid changes 1) pro(483) to Leu, 2) Gly(61) to Ala, 3) Asp(468) to Tyr (earlier described) and 4) a silent mutation not predicting any amino acid change at Glu(163). Family studies reveal that the occurrence of the different TM mutations is associated with a history of TED, but there are indications of multiple risk factors and no perfect co-segregation of the TM defects and TED. Among the controls, three individuals carried heterozygous TM variants predicting either a pro(477)-Ser mutation (two cases) or an Asp(468)-Tyr mutation. Our results thus demonstrate that a previously undocumented abnormality in the protein C anticoagulant pathway, a defect in the TM gene, to a certain extent co-segregates with familial thrombophilia. Further studies are needed to prove the causality of these TM mutations.

关键词：基因组人突变系谱血栓栓塞/遗传学血栓栓塞/病理生理学血栓调节蛋白/遗传学青少年成年人老年人女(雌)性人类男(雄)性

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Loss of signaling through the G protein, G_z, results in abnormal platelet activation and altered responses to psychoactive drugs

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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 2000年第18期97卷 9984-9989页

作者： Yang, J Wu, J Kowalska, MA Dalvi, A Prevost, N O'Brien, PJ Manning, D Poncz, M Lucki, I Blendy, JA Brass, LF Univ Penn Sch Med Dept Med Philadelphia PA 19104 USA Univ Penn Sch Med Dept Pediat Philadelphia PA 19104 USA Univ Penn Sch Med Dept Psychiat Philadelphia PA 19104 USA Univ Penn Sch Med Dept Pharmacol Philadelphia PA 19104 USA

Heterotrimeric G proteins mediate the earliest step in cell responses to external events by linking cell surface receptors to intracellular signaling pathways. G(z) is a member of the G(i) family of G proteins that is prominently expressed in platelets and brain. Here, we show that deletion of the a subunit of G(z) in mice: (i) impairs platelet aggregation by preventing the inhibition of cAMP formation normally seen at physiologic concentrations of epinephrine, and (ii) causes the mice to be more resistant to fatal thromboembolism. Loss of G(z alpha) also results in greatly exaggerated responses to cocaine, reduces the analgesic effects of morphine, and abolishes the effects of widely used antidepressant drugs that act as catecholamine reuptake inhibitors. These changes occur despite the presence of other G(i alpha) family members in the same cells and are not accompanied by detectable compensatory changes in the level of expression of other G protein subunits. Therefore, these results provide insights into receptor selectivity among G proteins and a model for understanding platelet function and the effects of psychoactive drugs.

关键词：血小板/生理学脑/生理学可卡因/药理学胶原/药理学环AMP/血液肾上腺素/药理学 GTP结合蛋白质α亚单位异源三聚体GTP结合蛋白质类/遗传学异源三聚体GTP结合蛋白质类/代谢小鼠基因敲除吗啡/药理学运动活动血小板活化/生理学血小板聚集精神治疗药物/药理学信号传导血栓栓塞/遗传学动物人类男(雄)性小鼠

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The 20210A allele of the prothrombin gene is an independent risk factor for perception deafness in patients with venous thromboembolic antecedents

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BLOOD 1999年第9期93卷 3150-3152页

作者： Mercier, E Quere, I Chabert, R Lallemant, JG Daures, JP Berlan, J Gris, JC CHU Consultat & Lab Hematol Nimes France CHU Montpellier Montpellier France CHU Serv Otorhinolaryngol Nimes France CHU Dept Med Informat Nunes France Fac Pharm Hematol Lab Montpellier France

One of the main factors of sudden hearing impairment, vestibular disturbance, or tinnitus is generally thought to be an acute labyrinthine ischemia of varying degrees. Despite the most common mechanism of sudden hearing loss appearing to be impaired cochlear blood circulation, the scientific basis of this assumption has not yet been proven. Experimental studies performed in animals through ferromagnetic obstruction of cochlear blood vessels have shown that vascular impairment of the inner ear results in a considerable decrease in intracochlear oxygenation, causing a significant loss in the auditory response. In humans, deafness associated with small infarctions of cochlear tissue have exceptionally been reported in the context of rare multifocal microangiopathic encephalopathies, but no data are available in the field of current sudden hearing impairment.

关键词：等位基因方差分析自身抗体/血液聋/并发症聋/流行病学聋/遗传学多元分析比值比蛋白质C缺乏/遗传学蛋白质S缺乏/遗传学凝血酶原/遗传学回归分析危险因素血栓栓塞/并发症血栓栓塞/遗传学静脉血栓形成/并发症静脉血栓形成/流行病学静脉血栓形成/遗传学青少年成年人老年人女(雌)性人类男(雄)性中年人

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Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease

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BLOOD 2000年第5期95卷 1517-1532页

作者： Lane, DA Grant, PJ Univ London Imperial Coll Sci Technol & Med Sch Med Dept Hematol London W6 8RP England Univ Leeds Acad Unit Mol Vasc Med Leeds W Yorkshire England

A casual glance at a rapidly expanding literature could easily lead to the conclusion that we are well on the way to establishing the genetic basis for vascular disorders, such is the number of polymorphisms that have been investigated (see summary Table 1). There has clearly been appreciable progress in relation to venous thromboembolic disease whereby the functional and clinical conse- quences of certain polymorphisms are accepted. Venous disease occurs in the context of a low-pressure, low-ow system in which atheroma does not occur. The most common genetic risk determi- nant for venous disease alters the function of the protein C anticoagulant pathway, whereas other genetic risk factors alter levels or activities of certain coagulation *** environ- mental inuences are undoubtedly important, genetic changes can play a crucial role and even sometimes lead to apparently spontaneous venous disease. In contrast, there is little clarity in relation to arterial disease (see Table 1). The initial promise that genetic risk factors might contribute appreciably to an explanation of the development of arterial disease has largely been unfullled, and the expectations raised by early reports of positive associations have been tempered by inconsistent results with almost all genes studied. Arterial disease occurs in a high-pressure, high-ow system with atheroma- tous disease as a dominant feature. Hemostatic factors have been extensively studied as possible risk determinants for disease. The most consistent associations have been found for brinogen. Although it is formally possible that brinogen is merely a marker of another underlying process, such as the acute-phase reaction,226 a strong case can be made that brinogen is causally involved in disease. For each of the other hemostatic factors, though a causal role is highly plausible, the evidence for this is less strong. It is interesting to note that hemostatic risk factors for atherothrombotic disorders are larg

关键词： 3'非翻译区动脉闭塞性疾病/流行病学动脉闭塞性疾病/遗传学血液凝固因子/遗传学因子Ⅴ/遗传学因子Ⅶ/遗传学因子ⅩⅢ/遗传学纤维蛋白原/遗传学纤维蛋白溶解/遗传学疾病遗传易感性止血/遗传学高同种半胱氨酸血症/流行病学高同种半胱氨酸血症/遗传学纤溶酶原激活物抑制物1/遗传学血小板膜糖蛋白类/遗传学点突变多态现象遗传凝血酶原/遗传学受体细胞表面/遗传学危险因素序列缺失血栓栓塞/流行病学血栓栓塞/遗传学血栓形成倾向/流行病学血栓形成倾向/遗传学组织型纤溶酶原激活物/遗传学静脉血栓形成/流行病学静脉血栓形成/遗传学人类

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The C536T transition in the tissue factor pathway inhibitor gene is not a common cause of venous thromboembolic disease in the UK population

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THROMBOSIS AND HAEMOSTASIS 2000年第3期83卷 511-511页

作者： Evans, GD Langdown, J Brown, K Baglin, TP Addenbrookes NHS Trust Cambridge CB2 2QQ England

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