The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel
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Glanzmann thrombastheniaA point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humansSpecificity of G alpha q and G alpha 11 gene expression in platelets and erythrocytes. Expressions of cellular differentiation and species differencesBiased exon/intron distribution of cryptic and de novo 3' splice sitesInherited platelet disorders: toward DNA-based diagnosisCalDAG-GEFI integrates signaling for platelet aggregation and thrombus formationSer-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 thrombastheniaAn 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.The GPIIb/IIIa (integrin alphaIIbbeta3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend.Glanzmann thrombasthenia: state of the art and future directions.Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.Demystified...adhesion molecule deficiencies.The platelet: life on the razor's edge between hemorrhage and thrombosis.A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.Glanzmann's thrombasthenia: an overview.Platelet gene therapy improves hemostatic function for integrin alphaIIbbeta3-deficient dogs.Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.Proteomic approaches to dissect platelet function: Half the story.Translating from the rivers of Babylon to the coronary bloodstreamNeutrophil accumulation on activated, surface-adherent platelets in flow is mediated by interaction of Mac-1 with fibrinogen bound to alphaIIbbeta3 and stimulated by platelet-activating factor.Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex.Do cell junction protein mutations cause an airway phenotype in mice or humans?Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia.Adhesion molecules in scleroderma: collagen binding integrins.A Val193Met mutation in GPIIIa results in a GPIIb/IIIa receptor with a constitutively high affinity for a small ligand.Severe juvenile vaginal bleeding due to Glanzmann's thrombasthenia: case report and review of the literature.Lessons learned from phagocytic function studies in a large cohort of patients with recurrent infections.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.Mutations in the beta3 gene giving rise to type I Glanzmann thrombasthenia in two families in Portugal.ITGA2B and ITGB3 gene mutations associated with Glanzmann thrombasthenia.Excessive gingival bleeding in two patients with Glanzmann thrombasthenia.Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
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The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on April 1991
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
The molecular genetic basis of ...... and Arab populations in Israel
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The molecular genetic basis of ...... nd Arab populations in Israel.
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type
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The molecular genetic basis of ...... and Arab populations in Israel
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The molecular genetic basis of ...... nd Arab populations in Israel.
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prefLabel
The molecular genetic basis of ...... and Arab populations in Israel
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The molecular genetic basis of ...... nd Arab populations in Israel.
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P2093
P2860
P356
P1476
The molecular genetic basis of ...... and Arab populations in Israel
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P2093
P2860
P304
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10.1073/PNAS.88.8.3160
P407
P577
1991-04-01T00:00:00Z