Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. - Wikidata - awgldk - TriplyDB

Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

http://www.wikidata.org/entity/Q34119585

about

An αIIb mutation in patients with Glanzmann thrombasthenia located in the N-terminus of blade 1 of the β-propeller (Asn2Asp) disrupts a calcium binding site in blade 6.Glanzmann thrombasthenia: state of the art and future directions.The platelet: life on the razor's edge between hemorrhage and thrombosis.Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association Glanzmann's thrombasthenia: an overview.Integrin structure: new twists and turns in dynamic cell adhesion.Three novel beta-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-alphaIIb, but variably impaired progression of pro-alphaIIbbeta3 from endoplasmic reticulum to Golgi The regulation of integrin function by divalent cations.Directly Activating the Integrin αIIbβ3 Initiates Outside-In Signaling by Causing αIIbβ3 Clustering.Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex.High-level transgene expression in induced pluripotent stem cell-derived megakaryocytes: correction of Glanzmann thrombasthenia.A Val193Met mutation in GPIIIa results in a GPIIb/IIIa receptor with a constitutively high affinity for a small ligand.Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain.Ligand binding and affinity modulation of integrins.Two genetic defects in alphaIIb are associated with type I Glanzmann's thrombasthenia in a Great Pyrenees dog: a 14-base insertion in exon 13 and a splicing defect of intron 13.Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17.Novel point mutations in the alphaIIb subunit (Phe289-->Ser, Glu324-->Lys and Gln747-->Pro) causing thrombasthenic phenotypes in four Japanese patients.Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia

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P2860

Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

http://www.wikidata.org/entity/Q34119585

description

1994 nî lūn-bûn

@nan

1994 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

1994 թվականի հունվարին հրատարակված գիտական հոդված

@hy

1994年の論文

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1994年論文

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1994年論文

@zh-hant

1994年論文

@zh-hk

1994年論文

@zh-mo

1994年論文

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1994年论文

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name

Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

@ast

Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

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Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

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type

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Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

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Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

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Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

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prefLabel

Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

@ast

Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

@en

Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

@nl

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P1433

Journal of Clinical Investigation

P1476

Glanzmann thrombasthenia secon ...... of platelet glycoprotein IIb.

@en

P2093

B S Coller

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J S Bennett

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M Poncz

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P Fortina

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P J Newman

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S J Shattil

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S Rifat

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T Parrella

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P2860

Structure of the platelet membrane glycoprotein IIb. Homology to the alpha subunits of the vitronectin and fibronectin membrane receptors

Structure of platelet glycoprotein IIIa. A common subunit for two different membrane receptors

Chromosomal localization of the genes for the vitronectin and fibronectin receptors alpha subunits and for platelet glycoproteins IIb and IIIa

Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia

Protein folding in the cell

Effect of deletion of glycoprotein IIb exon 28 on the expression of the platelet glycoprotein IIb/IIIa complex.

A murine monoclonal antibody that completely blocks the binding of fibrinogen to platelets produces a thrombasthenic-like state in normal platelets and binds to glycoproteins IIb and/or IIIa

A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia

A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.

Platelet vitronectin receptor expression differentiates Iraqi-Jewish from Arab patients with Glanzmann thrombasthenia in Israel.

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172-179

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scholarly article

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10.1172/JCI116942

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P433

1

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93

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1994-01-01T00:00:00Z

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8282784

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293750

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