Results 31 to 40 of about 3,635 (200)

Diagnostic biomarker for ACTN1 macrothrombocytopenia [PDF]

Blood, 2015
To the editor: Congenital macrothrombocytopenia is a heterogeneous group of rare disorders characterized by abnormally giant platelets and thrombocytopenia with a variable degree of bleeding tendency.[1][1],[2][2] A definitive diagnosis is possible in only approximately half of the patients ...
Shinji, Kunishima, Katsumasa, Kitamura, Motoko, Yasutomi, Ryoji, Kobayashi   +3 more
openaire   +2 more sources

Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia [PDF]

, 2008
Mutations in either ABCG5 or ABCG8 cause sitosterolemia, an inborn error of metabolism characterized by high plasma plant sterol concentrations. Recently, macrothrombocytopenia was described in a number of sitosterolemia patients, linking hematological ...
Drayer, A. Lyndsay, Sauer, Pieter J. J., Blom, Nel, De Haan, Gerald; id_orcid, Olthof, Sandra G., Kuipers, Folkert, Kruit, Janine K., De Haan, Gerald, Kema, Ido P., Kuipers, Folkert; id_orcid, Kruit, Janine K.; id_orcid, Vellenga, Edo, Kema, Ido P.; id_orcid, Bloks, Vincent W.   +13 more
core   +1 more source

Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient

Clinical Case Reports, 2021
First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.
Kaitlyn Flynn, Candice Feben, Lindiwe Lamola, Nadia Carstens, Amanda Krause, Zané Lombard, for DDD‐Africa as members of the H3Africa Consortium   +6 more
doaj   +1 more source

Mediterranean macrothrombocytopenia [PDF]

Blood, 1975
Abstract Platelet count, platelet size, and circulating platelet biomass concentration estimates made with an erythrocyte-calibrated electronic sizing system on EDTA-anticoagulated blood samples gave population medians and 95% ranges for 145 asymptomatic Mediterranean and 200 healthy Northern European subjects.
openaire   +3 more sources

Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells

Cells, 2020
The MYH9 gene encodes the heavy chain (MHCII) of non-muscle myosin II A (NMII-A). This is an actin-binding molecular motor essential for development that participates in many crucial cellular processes such as adhesion, cell migration, cytokinesis and ...
Gloria Asensio-Juárez, Clara Llorente-González, Miguel Vicente-Manzanares   +2 more
doaj   +1 more source

Bernard-Soulier Syndrome: Identification of a Novel GP1BB Variant in a Mauritanian Patient. [PDF]

Mol Genet Genomic Med
This study identifies a new mutation of the GP1BB gene responsible for Bernard‐Soulier syndrome in a Mauritanian patient. Genetic analysis reveals a nucleotide duplication resulting in a severe platelet adhesion defect. This work highlights the importance of molecular diagnosis and therapeutic strategies to improve the management of affected patients ...
Salem ML, Zein E, Mohamed GS.
europepmc   +2 more sources

Loss of mDia1 and Fhod1 impacts platelet formation but not platelet function

Platelets, 2021
An organized and dynamic cytoskeleton is required for platelet formation and function. Formins are a large family of actin regulatory proteins which are also able to regulate microtubule dynamics.
Malou Zuidscherwoude, Elizabeth J. Haining, Victoria A. Simms, Stephanie Watson, Beata Grygielska, Alex T. Hardy, Andrea Bacon, Stephen P. Watson, Steven G. Thomas   +8 more
doaj   +1 more source

Macrothrombocytopenia in velocardiofacial syndrome [PDF]

Journal of Thrombosis and Haemostasis, 2005
crystallographic 3-D structure of the fibrinogen c chain showsthat the change occurs in an outer region of the molecule(Fig. 1), distant from the two calcium-binding sites of thec chain which are located within the amino acid sequencedefined by residues 311–336 [4].
PALLOTTA, Rosanna, Evangelista V, Margaglione M, BUCCI, INES, SAPONARI, ANITA   +4 more
openaire   +2 more sources

CDG due to Defective Membrane Transporters: Update. [PDF]

J Inherit Metab Dis
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
Quelhas D, Ferreira CR, Jaeken J.
europepmc   +2 more sources

Regulation of platelet numbers and sizes by signaling pathways

Platelets, 2021
Either the glycoprotein (GP) Ib deficiency or hyper-function in humans can cause macrothrombocytopenia, the molecular mechanisms of which remain unclear.
Jaturawat Pawinwongchai, Ponthip Mekchay, Nungruthai Nilsri, Nipan Israsena, Ponlapat Rojnuckarin   +4 more
doaj   +1 more source