Results 11 to 20 of about 3,635 (200)

Advances in understanding the pathogenesis of hereditary macrothrombocytopenia [PDF]

British Journal of Haematology, 2021
SummaryLow platelet count, or thrombocytopenia, is a common haematological abnormality, with a wide differential diagnosis, which may represent a clinically significant underlying pathology. Macrothrombocytopenia, the presence of large platelets in combination with thrombocytopenia, can be acquired or hereditary and indicative of a complex disorder. In
Collins, Janine, Astle, William J, Megy, Karyn, Mumford, Andrew D, Vuckovic, Dragana   +4 more
openaire   +6 more sources

ACTN1 Mutations Cause Congenital Macrothrombocytopenia [PDF]

The American Journal of Human Genetics, 2013
Congenital macrothrombocytopenia (CMTP) is a heterogeneous group of rare platelet disorders characterized by a congenital reduction of platelet counts and abnormally large platelets, for which CMTP-causing mutations are only found in approximately half the cases.
Kunishima, Shinji, Okuno, Yusuke, Yoshida, Kenichi, Shiraishi, Yuichi, Sanada, Masashi, Muramatsu, Hideki, Chiba, Kenichi, Tanaka, Hiroko, Miyazaki, Koji, Sakai, Michio, Ohtake, Masatoshi, Kobayashi, Ryoji, Iguchi, Akihiro, Niimi, Gen, Otsu, Makoto, Takahashi, Yoshiyuki, Miyano, Satoru, Saito, Hidehiko, Kojima, Seiji, Ogawa, Seishi   +19 more
openaire   +3 more sources

αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum. [PDF]

PLoS ONE, 2020
BackgroundRare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like ...
Sara Morais, Jorge Oliveira, Catarina Lau, Mónica Pereira, Marta Gonçalves, Catarina Monteiro, Ana Rita Gonçalves, Rui Matos, Marco Sampaio, Eugénia Cruz, Inês Freitas, Rosário Santos, Margarida Lima   +12 more
doaj   +2 more sources

Identification of novel TUBB1 variants in patients with macrothrombocytopenia

TURKISH JOURNAL OF MEDICAL SCIENCES, 2021
Macrothrombocytopenia is an autosomal-dominant disorder characterized by increased platelet size and a decreased number of circulating platelets. The membrane skeleton and the link between actin filaments of the skeleton and microtubules, which consist of alpha and beta tubulin [including the tubulin beta-1 chain (TUBB1)] heterodimers, are important ...
Zihni Onur ÇALIŞKANER, Abdullah Abdul WAHEED, Merve TUZLAKOĞLU ÖZTÜRK, Yeşim OYMAK, Uygar Halis TAZEBAY, Nejat AKAR, Ayten KANDİLCİ, Didem TORUN ÖZKAN   +7 more
openaire   +5 more sources

Hypoparathyroidism concomitant with macrothrombocytopenia in an elderly woman with 22q11.2 deletion syndrome

Platelets, 2018
We describe the case of a 62-year-old woman with schizophrenia and intellectual disability, who presented with intermittent muscle cramping for 2 weeks.
Hsiu-Chien Yang, Shih-Hua Lin, Yi-Ying Wu, Chih-Chien Sung   +3 more
doaj   +2 more sources

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. [PDF]

PLoS ONE, 2013
Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited ...
Paul Guéguen, Karen Rouault, Jian-Min Chen, Odile Raguénès, Yann Fichou, Elisabeth Hardy, Eric Gobin, Brigitte Pan-Petesch, Mathieu Kerbiriou, Pascal Trouvé, Pascale Marcorelles, Jean-Francois Abgrall, Cédric Le Maréchal, Claude Férec   +13 more
doaj   +2 more sources

Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability. [PDF]

PLoS ONE, 2013
Nonmuscle myosin heavy chain IIA (NMMHCIIA) encoded by MYH9 is associated with autosomal dominantly inherited diseases called MYH9 disorders. MYH9 disorders are characterized by macrothrombocytopenia and very characteristic inclusion bodies in ...
Nobuaki Suzuki, Shinji Kunishima, Makoto Ikejiri, Shoichi Maruyama, Michihiko Sone, Akira Takagi, Masahito Ikawa, Masaru Okabe, Tetsuhito Kojima, Hidehiko Saito, Tomoki Naoe, Tadashi Matsushita   +11 more
doaj   +3 more sources

Co-inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction. [PDF]

Br J Haematol
British Journal of Haematology, Volume 208, Issue 6, Page 2298-2303, June 2026.
Bandini P, Borràs N, Martin-Fernandez L, Fernández-Mosteirín N, Aguinaco MR, Benítez O, Comes N, Ramírez L, González N, Lera C, Altisent C, Vidal F, Corrales I.   +12 more
europepmc   +2 more sources

ITGA2B/ITGB3-Related Macrothrombocytopenia Associated With Gain-of-Function Mutations in ITGA2B or ITGB3 Genes. [PDF]

J Cell Mol Med
ABSTRACT Glanzmann thrombasthenia (GT) is an inherited hemorrhagic disorder characterised by impaired platelet functions, manifested clinically as spontaneous bleeding. It is usually inherited in an autosomal recessive manner. Platelet dysfunction in patients with GT is caused by quantitative and/or qualitative deficiencies in αIIbβ3, which result from
Wu J, Yan H, Li Z, Zhu Y, Shao R, Xin H, Jia T, Ge M, Zhang L, Jiang S, Mao J, Huang J, Fang C, Xi X, Shi X.   +14 more
europepmc   +2 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]

Acta Paediatr
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Cagol R, Sbeity Barakat M, Willems M, Akbaraly T, Christine BA, Diaz I, Theron A.   +6 more
europepmc   +2 more sources