[HTML][HTML] Hemophilic arthropathy: current knowledge and future perspectives

R Gualtierotti, LP Solimeno, F Peyvandi - Journal of Thrombosis and …, 2021 - Elsevier
Hemophilia A and B are rare X‐linked inherited bleeding disorders caused by complete or
partial deficiency in or the absence of coagulation factors VIII and IX. Recurrent joint …

Inherited platelet disorders: an updated overview

V Palma-Barqueros, N Revilla, A Sánchez… - International journal of …, 2021 - mdpi.com
Platelets play a major role in hemostasis as ppwell as in many other physiological and
pathological processes. Accordingly, production of about 1011 platelet per day as well as …

High-throughput spatiotemporal monitoring of single-cell secretions via plasmonic microwell arrays

S Ansaryan, YC Liu, X Li, AM Economou… - Nature Biomedical …, 2023 - nature.com
Methods for the analysis of cell secretions at the single-cell level only provide
semiquantitative endpoint readouts. Here we describe a microwell array for the real-time …

Advances in platelet function testing—light transmission aggregometry and beyond

J Le Blanc, F Mullier, C Vayne… - Journal of clinical …, 2020 - mdpi.com
Platelet function testing is essential for the diagnosis of hemostasis disorders. While there
are many methods used to test platelet function for research purposes, standardization is …

Circular RNA circCUL3 accelerates the Warburg effect progression of gastric cancer through regulating the STAT3/HK2 axis

Z Pu, M Xu, X Yuan, H Xie, J Zhao - Molecular Therapy-Nucleic Acids, 2020 - cell.com
The Warburg effect is a significant hallmark of gastric cancer (GC), and increasing evidence
emphasizes the crucial role of circular RNAs (circRNAs) in GC tumorigenesis. However, the …

[HTML][HTML] Insights into the molecular genetic of hemophilia A and hemophilia B: the relevance of genetic testing in routine clinical practice

B Pezeshkpoor, J Oldenburg, A Pavlova - Hämostaseologie, 2022 - thieme-connect.com
Hemophilia A and hemophilia B are rare congenital, recessive X-linked disorders caused by
lack or deficiency of clotting factor VIII (FVIII) or IX (FIX), respectively. The severity of the …

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee …

K Megy, K Downes, MC Morel‐Kopp… - … of Thrombosis and …, 2021 - Wiley Online Library
The implementation of high‐throughput sequencing (HTS) technologies in research and
diagnostic laboratories has linked many new genes to rare bleeding, thrombotic, and …

[HTML][HTML] Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders

C Zaninetti, E Leinøe, ML Lozano, M Rossing… - Journal of Thrombosis …, 2023 - Elsevier
Abstract Background Inherited platelet disorders (IPDs) are rare diseases characterized by
reduced blood platelet counts and/or impaired platelet function. Recognizing IPDs is …

Role of thrombopoietin receptor agonists in inherited thrombocytopenia

JM Bastida, JR Gonzalez-Porras, J Rivera… - International Journal of …, 2021 - mdpi.com
In the last decade, improvements in genetic testing have revolutionized the molecular
diagnosis of inherited thrombocytopenias (ITs), increasing the spectrum of knowledge of …

[HTML][HTML] Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders …

K Downes, P Borry, K Ericson, K Gomez… - Journal of Thrombosis …, 2020 - Elsevier
Molecular diagnostics of inherited platelet disorders (IPD) has been revolutionized by the
implementation of high‐throughput sequencing (HTS) approaches. A conclusive diagnosis …