Results 81 to 90 of about 3,635 (200)

Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome

, 2001
A form of autosomal dominant macrothrombocytopenia is characterized by mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count.
BELLETTI S, PERROTTA S., SAVOIA, ANNA, POGGI, BELLETTI S., NORIS, PATRIZIA, PEROTTA S, SAVINO M., POGGI V, SAVOIA A., BALDUINI C, PERROTTA, Silverio, SAVINO M, BALDUINI CL, NORIS P, SAVOIA A, POGGI V., NORIS N, IOLASCON A., DEL VECCHIO M., DEL VECCHIO M, BALDUINI, CARLO   +21 more
core   +1 more source

Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia [PDF]

, 2017
[EN] Background: Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes. Increased levels of plasma plant sterols (PSs) usually result in xanthomas and premature coronary atherosclerosis ...
Hernández Rivas, Jesús María, Lozano, María L., Díez-Campelo, María, Rivera, J., Janusz, Kamila, Bastida Bermejo, José María, Girós, M., González Porras, José Ramón, Benito Sánchez, Rocío, Hortal, A., Marcellini, S., Hernández Sánchez, Jesús María   +11 more
core   +3 more sources

Formin proteins in megakaryocytes and platelets: regulation of actin and microtubule dynamics

Platelets, 2019
The platelet and megakaryocyte cytoskeletons are essential for formation and function of these cells. A dynamic, properly organised tubulin and actin cytoskeleton is critical for the development of the megakaryocyte and the extension of proplatelets ...
Malou Zuidscherwoude, Hannah L.H. Green, Steven G. Thomas   +2 more
doaj   +1 more source

A Novel Homozygous GFI1B Mutation in Siblings With Thrombocytopenia and Bleeding Tendency

Clinical Case Reports, Volume 13, Issue 10, October 2025.
Pedigree chart showing affected siblings. ABSTRACT Platelet type bleeding disorder 17 (OMIM #187900) is a type of “gray platelet syndrome” and occurs due to a mutation in the GFI1B gene on chromosome 9q34.13. Patients usually present with a history of easy bleeding tendencies, recurrent epistaxis or gum bleeding, and rarely with severe hemorrhage, and ...
Shova Aryal, Surabhi Aryal, Sangit Adhikari, Punam Adhikari   +3 more
wiley   +1 more source

LIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B

, 2016
International audiencevon Willebrand disease type 2B (VWD-type 2B) is characterized by gain-of-function mutations of von Willebrand factor (vWF) that enhance its binding to platelet glycoprotein Ibα and alter the protein's multimeric structure.
Marijke Bryckaert, Kauskot, Alexandre, Cécile V. Denis, Rothschild, Chantal, Bryckaert, Marijke, Frédéric Adam, Jean-Claude Bordet, Christophe, Olivier, Alexandre Kauskot, Lenting, Peter, Adam, Frédéric, Muczynski, Vincent, Vincent Muczynski, Ayme, Gabriel, Valérie Proulle, Eliane Berrou, Berrou, Eliane, Baruch, Dominique, Sonia Poirault-Chassac, Poirault-Chassac, Sonia, Casari, Caterina, Olivier D. Christophe, Chantal Rothschild, Dominique Baruch, Denis, Cécile, Bordet, Jean-Claude, Caterina Casari, Christelle Soukaseum, Gabriel Aymé, Audrey Pietrzyk-Nivau, Soukaseum, Christelle, Peter J. Lenting, Proulle, Valérie, Pietrzyk-Nivau, Audrey, Rosa, Jean-Philippe, Jean-Philippe Rosa   +35 more
core   +1 more source

A novel ITGA2B double cytosine frameshift variant (c.1986_1987insCC) leads to Glanzmann's thrombasthenia in a cat

Journal of Veterinary Internal Medicine
Background Glanzmann's thrombasthenia (GT) is a congenital platelet disorder affecting approximately 1:1 000 000 people globally and characterized by impaired platelet aggregation and clot retraction.
Victor N. Rivas, Avalene W. K. Tan, Meg Shaverdian, Nghi P. Nguyen, Jalena R. Wouters, Joshua A. Stern, Ronald H. L. Li   +6 more
doaj   +1 more source

Insights into the clinical, platelet and genetic landscape of inherited thrombocytopenia with malignancy risk

British Journal of Haematology, Volume 207, Issue 4, Page 1565-1577, October 2025.
Inherited thrombocytopenia (IT) caused by germline variants in RUNX1, ETV6 or ANKRD26 carries a high risk of developing haematological malignancy. This study examined the clinical, platelet and molecular characteristics of 66 patients with these conditions, who carried 24 distinct genetic variants in the corresponding genes.
Ana Marín‐Quílez, Ana Sánchez‐Fuentes, Ana Zamora‐Cánovas, Pedro Luis Gómez‐González, Lorena Diaz‐Ajenjo, Rocío Benito, Agustín Rodríguez‐Alén, Teresa Sevivas, Thais Murciano, Laura Murillo, Nora V. Butta, Nuria Revilla, Rosa Campos, Paola Escribano, Jordi Esteve, Nuria Fernández‐Mosteirin, Francisca Ferrer‐Marín, Laura Hernández, Jorge Huerta‐Aragonés, Antonio León, Mónica López‐Duarte, Eugenia López, Mónica Martín‐Salces, Meritxell Nomdedeu, Raquel Oña, Irene Peláez‐Pleguezuelos, Fernando Ramos, Elena Sebastián, Claudia Serrano, Cristina Sierra‐Aisa, Rosa Vidal‐Laso, José Ramón González‐Porras, María Luisa Lozano, José María Bastida, José Rivera   +34 more
wiley   +1 more source

Novel point mutation in a leucine-rich repeat of the GPIbα chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

Haematologica, 2008
In Italy, a significant proportion of patients with autosomal dominant inheritance of macrothrombocytopenia have been recognized as having heterozygous Bernard-Soulier syndrome carrying the Bolzano-type defect. This condition prompted a systematic review
Silvia Vettore, Raffaella Scandellari, Stefano Moro, Anna Maria Lombardi, Margherita Scapin, Maria Luigia Randi, Fabrizio Fabris   +6 more
doaj   +1 more source

Adiponectin Assists Thrombopoietic Agents in ITP Treatment by Enhancing Myosin‐9/Rab6A‐Mediated Trafficking of c‐Mpl in MKs

Advanced Science, Volume 12, Issue 34, September 11, 2025.
This study revealed that adiponectin facilitates the therapeutic efficiency of thrombopoietic agents by stimulating the membrane trafficking of c‐Mpl in MKs, which provides a point for ITP therapy. Moreover, a novel c‐Mpl trafficking mechanism based on the Myosin‐9/Rab6A complex is constructed. These findings provide new insights into the applicability
Xin Zhao, Huixian Ma, Guosheng Li, Jilong Xiao, Zhiyu Shi, Mingying Li, Xinguang Liu, Tao Sun, Chunyan Ji   +8 more
wiley   +1 more source

Transcriptome profiling of megakaryocytes and platelets: Application to GP9‐ and IKZF5‐related thrombocytopenia

HemaSphere, Volume 9, Issue 9, September 2025.
Abstract Platelets are anucleate cells produced in the bone marrow and derived from large progenitor cells called megakaryocytes (MKs). Platelets receive RNA transcripts from their progenitorial MKs during thrombopoiesis. However, the correspondence between platelet and MK transcriptomes is poorly understood, particularly in the context of germline ...
Koenraad De Wispelaere, Fabienne Ver Donck, Kato Ramaekers, Chantal Thys, Koji Eto, Veerle Labarque, Ernest Turro, Kathleen Freson   +7 more
wiley   +1 more source