伯纳德-索利尔综合征 - Suppr

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超能文献

Bernard-Soulier syndrome.

作者信息

López J A, Andrews R K, Afshar-Kharghan V, Berndt M C

机构信息

Department of Medicine, Baylor College of Medicine and VA Medical Center, Houston, TX 77030, USA.

出版信息

Blood. 1998 Jun 15;91(12):4397-418.

PMID:9616133

Abstract

摘要

相似文献

Bernard-Soulier syndrome.伯纳德-索利尔综合征

Blood. 1998 Jun 15;91(12):4397-418.

Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome.与伯-苏综合征相关的糖蛋白Ibα编码序列中的无义突变。

Proc Natl Acad Sci U S A. 1990 Mar;87(5):2026-30. doi: 10.1073/pnas.87.5.2026.

Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients.伯纳德-苏利耶病患者血小板中糖蛋白Ib残留量与糖蛋白IX几乎缺失并存。

Blood. 1988 Sep;72(3):1086-8.

[Bernard -Soulier syndrome].[伯纳德-索利尔综合征]

Sangre (Barc). 1992 Jun;37(3):185-91.

Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant.血小板血管性血友病因子受体GPIb/IX/V的GPIbalpha链富含亮氨酸重复序列中的新型点突变，导致影响两个无关家族的遗传性显性形式的巨大血小板综合征：N41H变异体。

Haematologica. 2008 Nov;93(11):1743-7. doi: 10.3324/haematol.12830. Epub 2008 Sep 24.

The common pathway for alpha- and gamma-thrombin-induced platelet activation is independent of GPIb: a study of Bernard-Soulier platelets.α-凝血酶和γ-凝血酶诱导血小板活化的共同途径不依赖于糖蛋白Ib：对伯纳德-索利尔血小板的研究

Br J Haematol. 1990 Jul;75(3):385-92. doi: 10.1111/j.1365-2141.1990.tb04353.x.

Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex.博尔扎诺型变异型伯纳德-索利尔综合征。一种由于血小板糖蛋白Ib-IX复合物结构和功能异常导致的先天性出血性疾病。

J Clin Invest. 1990 Jul;86(1):25-31. doi: 10.1172/JCI114692.

Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX.伯纳德-索利尔综合征鹿儿岛型：糖蛋白（GP）Ibα的Ser 444→终止突变，导致循环中的截短型GPIbα以及GPIbβ和GPIX的表面表达。

Blood. 1994 Nov 15;84(10):3356-62.

Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.血小板糖蛋白Ibα富含亮氨酸重复序列中的点突变导致伯-苏综合征。

J Clin Invest. 1993 Sep;92(3):1213-20. doi: 10.1172/JCI116692.

Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.与糖蛋白IX富含亮氨酸结构域纯合突变相关的变异型伯纳德-苏利耶综合征

Blood. 1994 Aug 15;84(4):1124-31.

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Blood donor biobank as a resource in personalised biomedical genetic research.献血者生物样本库作为个性化生物医学基因研究的一种资源。

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Why platelet mechanotransduction matters for hemostasis and thrombosis.血小板机械转导在止血和血栓形成中的作用。

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Experience of kidney transplantation to a patient with Bernard Soulier syndrome: A case report.对一名患有伯纳德-索利尔综合征患者进行肾移植的经验：病例报告。

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Low α-Thrombin/GPIbα Interaction Is a Potential Contributor to Platelet Hyper-reactivity in COVID-19 Patients.低α-凝血酶/糖蛋白Ibα相互作用是COVID-19患者血小板高反应性的潜在促成因素。

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