Glanzmann thrombasthenia: genetic basis and clinical correlates.

Blood Platelets Humans Integrin beta3 / genetics Platelet Aggregation Platelet Function Tests Platelet Glycoprotein GPIIb-IIIa Complex Thrombasthenia / diagnosis

Journal

Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435

Informations de publication

Date de publication:
04 2020
Historique:
received: 18 12 2019
accepted: 07 02 2020
pubmed: 7 3 2020
medline: 28 4 2021
entrez: 7 3 2020
Statut: ppublish

Résumé

Glanzmann thrombasthenia (GT) is an autosomal recessive disorder of platelet aggregation caused by quantitative or qualitative defects in integrins αIIb and β3. These integrins are encoded by the

Identifiants

DOI: 10.3324/haematol.2018.214239 PMID: 32139434 PMC: PMC7109743
pubmed: 32139434
pii: haematol.2018.214239
doi: 10.3324/haematol.2018.214239
pmc: PMC7109743
doi:

Substances chimiques

Integrin beta3 0
Platelet Glycoprotein GPIIb-IIIa Complex 0

Types de publication

Journal Article Research Support, N.I.H., Extramural Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

888-894

Subventions

Organisme : NHLBI NIH HHS
ID : R01 HL141424
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG009650
Pays : United States

Informations de copyright

Copyright© 2020 Ferrata Storti Foundation.

Références

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Auteurs

Juliana Perez Botero (JP)

Versiti and Division of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI, USA.

Kristy Lee (K)

Department of Genetics, University of North Carolina at Chapel Hill, NC, USA.

Brian R Branchford (BR)

University of Colorado School of Medicine, Department of Pediatrics, Division of Hematology/Oncology/Bone Marrow Transplant, Aurora, CO, USA.

Paul F Bray (PF)

Molecular Medicine Program, Division of Hematology and Hematologic Malignancies, Department of Medicine, University of Utah, Salt Lake City, UT, USA.

Kathleen Freson (K)

Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.

Michele P Lambert (MP)

The Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA, USA.

Minjie Luo (M)

Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Perelman School of Medicine, Philadelphia, PA, USA.

Shruthi Mohan (S)

Department of Genetics, University of North Carolina at Chapel Hill, NC, USA.

Justyne E Ross (JE)

Department of Genetics, University of North Carolina at Chapel Hill, NC, USA.

Wolfgang Bergmeier (W)

Department of Biochemistry and Biophysics and UNC Blood Research Center, University of North Carolina at Chapel Hill, NC, USA.

Jorge Di Paola (J)

Division of Pediatric Hematology Oncology, Department of Pediatrics, Washington University School of Medicine in St. Louis, MO, USA dipaolaj@wustl.edu.

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Classifications MeSH

questionsmedicales.fr › Systèmes sanguin et immunitaire › Sang › Cellules sanguines › Plaquettes › Glanzmann thrombasthenia: genetic basis and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Glanzmann thrombasthenia: genetic basis and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs immunologiques › Intégrines › Chaines bêta des intégrines › Intégrine bêta3 › Glanzmann thrombasthenia: genetic basis and...
questionsmedicales.fr › Phénomènes physiologiques respiratoires et circulatoires › Phénomènes physiogiques du sang › Hémostase › Activation plaquettaire › Agrégation plaquettaire › Glanzmann thrombasthenia: genetic basis and...
questionsmedicales.fr › Techniques d'investigation › Techniques de laboratoire clinique › Tests hématologiques › Tests fonctionnels plaquettaires › Glanzmann thrombasthenia: genetic basis and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs immunologiques › Glycoprotéines de membrane plaquettaire › Complexe glycoprotéique IIb-IIIa de la membrane plaquettaire › Glanzmann thrombasthenia: genetic basis and...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Troubles héréditaires de la coagulation sanguine › Thrombasthénie › Glanzmann thrombasthenia: genetic basis and...