Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3-Reference-Cited by-同舟云学术

Inherited macrothrombocytopenia due to a novel splice donor site mutation in ITGB3

Published:2023-07-29 Issue:10 Volume:102 Page:2947-2949
ISSN:0939-5555
Container-title:Annals of Hematology
language:en
Short-container-title:Ann Hematol

Author:

Komeno Yukiko^ORCID,Uchiyama Toru^ORCID,Kawano Fuyuko,Kurihara Yuya^ORCID,Kurokawa Mineo^ORCID,Ohara Osamu^ORCID,Kunishima Shinji^ORCID,Ishiguro Akira^ORCID

Funder

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Hematology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00277-023-05387-z.pdf

Reference6 articles.

1. Huang J, Li X, Shi X et al (2019) Platelet integrin αIIbβ3: Signal transduction, regulation, and its therapeutic targeting. J Hematol Oncol 12(1):26. https://pubmed.ncbi.nlm.nih.gov/30845955/

2. Warren JT, Di Paola J (2022) Genetics of inherited thrombocytopenias. Blood 139(22):3264–3277. https://pubmed.ncbi.nlm.nih.gov/35167650/

3. Gresele P, Falcinelli E, Giannini S et al (2009) Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two italian families. Haematologica 94(5):663–669. https://pubmed.ncbi.nlm.nih.gov/19336737/

4. Kashiwagi H, Kunishima S, Kiyomizu K et al (2013) Demonstration of novel gain-of-function mutations of αIIbβ3: Association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. Mol Genet Genomic Med 1(2):77–86. https://pubmed.ncbi.nlm.nih.gov/24498605/

5. Hauschner H, Mor-Cohen R, Messineo S et al (2015) Abnormal cytoplasmic extensions associated with active αIIbβ3 are probably the cause for macrothrombocytopenia in glanzmann thrombasthenia-like syndrome. Blood Coagul Fibrinolysis 26(3):302–308. https://pubmed.ncbi.nlm.nih.gov/25806962/