platelet abnormality characterized by defective clot formation, impaired aggregation, and prolonged bleeding time; other manifestations include nosebleeds, inappropriate bruising, and excessive bleeding.

Data Correlations | 2 studies

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Genes	Score
ITGA2B	100
ITGB3	99

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Biogroups	Score
uCalpain and friends in Cell spread	100
Phospholipids As Signalling Interme…	99
Plexin/semaphorin/integrin	99
Regulation of Actin Cytoskeleton	99
Hematopoietic Cell Lineage	98
ECM Receptor Interaction	98

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Individual Studies

Mouse Phenotypes - Inherited platelet disorder Mus musculus |   Mutations/Phenotypic This study contains curated mouse gene mutation data extracted from the Mouse Genome Database (MGD) at The Jackson Laboratory, Bar Harbor, Maine. Additional computational processing and curation of mouse phenotype data was performed to further organize and group data from related phenotypes into uni… Source: NextBio Library/Mutation and Phenotypic data

OMIM - Thrombocytopathy Homo sapiens |   Mutations/Phenotypic This study contains curated human phenotype data extracted from OMIM. Additional computational processing and curation of the phenotype data was performed to further organize and group data from related phenotypes into unifying disease categories. Source: NextBio Library/Mutation and Phenotypic data

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Literature | 838 results

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• Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.

  Authors: Lena Svensson, Kimberley Howarth, Alison McDowall, Irene Patzak, Rachel Evans, Siegfried Ussar, Markus Moser, Ayse Metin, Mike Fried, Ian Tomlinson,…

  Nature medicine 2009 Mar

• AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

  Authors: Vincent Jallu, Mathilde Dusseaux, Simon Panzer, Marie-Françoise Torchet, Nathalie Hezard, Jenny Goudemand, Alexandre G de Brevern, Cécile Kaplan

  Human mutation 2010 Mar

Associated Researchers

Thought leaders and organizations working on research involving Glanzmann's thrombasthenia.

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• Nurit Rosenberg
• Kanjaksha Ghosh
• Shrimati Shetty
• Meganathan Kannan
• Renu Saxena

View All Clinical Trials Sponsors

• Rockefeller University
• Novo Nordisk

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• All India Institute of Medical Sciences
• Platelet Immunology Laboratory
• University of Debrecen
• Cancer Research UK London Research Institute
• Pamukkale University

Clinical Trials | 2 trials

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• The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.

  conditions: Glanzmann Thrombasthenia

  interventions: none

   

• Observational Study on the Efficacy and Safety of NovoSeven® During "Real-Life" Usage in Germany

  conditions: Haemophilia

  interventions: activated recombinant human factor VII

   

Community

View All NextBio Users | 1 person

• Meganathan  Kannan

  Postdoctoral fellow

  U.S.FDA

NextBio Groups

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