1.
Platelets
; 33(2): 324-327, 2022 Feb 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33813986
RESUMO
GP1bß is a component of the von Willebrand factor (vWF) receptor complex that is necessary for platelet formation and activation. A novel frameshift variant in GP1BB has been identified in a family with macrothrombocytopenia. The variant leads to a protein that is 101 amino acids longer than wild type with loss of the transmembrane domain. As there is no defect in platelet aggregation, the family are classified as heterozygous carriers of a Bernard-Soulier syndrome-related mutation. The levels of the vWF receptor on platelets are reduced to 50% of the controls, with the presence of large platelets but normal platelet aggregation demonstrating that decreased vWF receptor expression impacts proplatelet formation but not platelet function.
Assuntos
Mutação da Fase de Leitura/genética , Complexo Glicoproteico GPIb-IX de Plaquetas/genética , Glicoproteínas da Membrana de Plaquetas/metabolismo , Trombocitopenia/genética , Feminino , Humanos , Masculino , Agregação Plaquetária
2.
Platelets
; 30(5): 672-674, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30452302