Results 51 to 60 of about 3,635 (200)

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia [PDF]

, 2017
Platelets are anuclear cells that are essential for blood clotting. They are produced by large polyploid precursor cells called megakaryocytes. Previous genome-wide association studies in nearly 70,000 individuals indicated that single nucleotide ...
Foad, N., Alexander, W.S., Westbury, S.K., Hilton, D.J., Kew, V., Lincetto, C., Chappaz, S., Pleines, I., Obaji, S.G., Schevzov, G., Astle, W.J., Nurden, P., Lane, R.M., Downes, K., BioResource, N., Collins, P.W., Aurbach, K., Ballester-Beltrán, J., Woods, J., et al., Mumford, A.D.   +20 more
core   +5 more sources

Building platelet phenotypes: Diaphanous-related formin 1 (DIAPH1)-related disorder

Platelets, 2022
Variants of the Diaphanous-Related Formin 1 (DIAPH-1) gene have recently been reported causing inherited macrothrombocytopenia. The essential/”diagnostic” characteristics associated with the disorder are emerging; however, robust and complete criteria ...
David Rabbolini, Hai Po Helena Liang, Marie-Christine Morel-Kopp, David Connor, Shane Whittaker, Scott Dunkley, Dea Donikian, Mayuko Kondo, Walter Chen, William S Stevenson, Heather Campbell, Joanne Joseph, Christopher Ward, Timothy Brighton, Vivien M. Chen   +14 more
doaj   +1 more source

Macrothrombocytopenia/Stomatocytosis Specially Associated With Phytosterolemia [PDF]

Clinical and Applied Thrombosis/Hemostasis, 2012
Phytosterolemia is a rare autosomal recessive disease of plant sterol metabolism, the pathophysiological features of which are high plasma levels of plant sterols and xanthomatosis caused by mutations of ABCG5 and ABCG8 genes, and the combination of hemolysis and macrothrombocytopenia is an unusual clinical manifestation.
Gaifeng, Wang, Lijuan, Cao, Zhaoyue, Wang, Minghua, Jiang, Xionghua, Sun, Xia, Bai, Changgeng, Ruan   +6 more
openaire   +2 more sources

Mutation spectrum and genotype‐phenotype correlations in a large French cohort of MYH9‐Related Disorders

Molecular Genetics & Genomic Medicine, 2014
MYH9‐Related Disorders are a group of rare autosomal dominant platelet disorders presenting as nonsyndromic forms characterized by macrothrombocytopenia with giant platelets and leukocyte inclusion bodies or as syndromic forms combining these ...
Béatrice Saposnik, Sylvie Binard, Odile Fenneteau, Alan Nurden, Paquita Nurden, Marie‐Françoise Hurtaud‐Roux, Nicole Schlegel, the French MYH9 network   +7 more
doaj   +1 more source

Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia [PDF]

, 2017
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease resulting from variants in the WAS gene, characterized by a triad of immunodeficiency, eczema, and thrombocytopenia. Despite the fact that WAS is traditionally differentiated from immune
Jose Maria Bastida, Berta González, Kamila Janusz, Elena Blanco, Jose Rivera, Ana Hortal Benito-Sendin, Monica Del Rey, Ramon González-Porras, Susana Riesco, Nuria Revilla, Maria Hernández-Rivas, Jose Padilla, Martin Perez-Andrés, Rocio Benito, David Bueno, Vicente Vicente, Maria Luisa Lozano   +16 more
core   +2 more sources

A quantitative dissection of the DNA‐binding properties of pathogenic GATA1 mutants

The FEBS Journal, EarlyView.
Transcription factor activity is influenced by cell context, accessibility of target sequences, and co‐factor recruitment. Quantitatively characterizing the consequences of individual mutations in the transcription factors or their target sequences remains technically challenging. Zambo et al. use mutant GATA1‐ATP2B4 binding to illustrate an innovation
Kaoru Takasaki
wiley   +1 more source

Essential role of zyxin in platelet biogenesis and glycoprotein Ib-IX surface expression

Cell Death and Disease, 2021
Platelets are generated from the cytoplasm of megakaryocytes (MKs) via actin cytoskeleton reorganization. Zyxin is a focal adhesion protein and wildly expressed in eukaryotes to regulate actin remodeling.
Rong Yan, Xinxin Ge, Ningbo Pang, Honglei Ye, Liuxia Yuan, Bin Cheng, Kangxi Zhou, Mengnan Yang, Yueyue Sun, Suqin Zhang, Zhongren Ding, Jincai Luo, Changgeng Ruan, Kesheng Dai   +13 more
doaj   +1 more source

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Background Inherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding ...
Silvia Ferrari, Daniela Regazzo, Antonella Bertomoro, Anna Cerbo, Alessandro Galbiati, Elisabetta Cosi, Paolo Simioni   +6 more
wiley   +1 more source

Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome Associated with Macrothrombocytopenia

Journal of Applied Hematology
Congenital thrombocytopenias are a diverse range of diseases. Of them, Glanzmann thrombasthenia is an autosomal recessive platelet aggregation disorder due to defect in the alpha IIb/beta3 integrins, coded by the ITGA2B and ITGB3 genes.
Abdulrhman Ibrahim Alathaibi, Muhammad Matloob Alam, Mohammed Kamal, Mohamed Refai, Faisal Alosaimi, Omar Allehyani, Nojood Althubaity   +6 more
doaj   +1 more source

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source