Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Autosomal dominant macrothrombocytopenia"'
Publikováno v:
Platelets. 33:324-327
GP1bβ is a component of the von Willebrand factor (vWF) receptor complex that is necessary for platelet formation and activation. A novel frameshift variant in GP1BB has been identified in a family with macrothrombocytopenia. The variant leads to a
Publikováno v:
Acta Haematologica. 144:91-94
Macrothrombocytopenia (MTP) is a group of rare disorders characterized by giant platelets, thrombocytopenia, and variable association with abnormal bleeding. Inherited MTP are frequently misdiagnosed as immune thrombocytopenia. Associated second-orga
Autor:
Caterina Marconi, Marco Seri, Roberta Bottega, Annalisa Pastore, Michela Faleschini, Federica Melazzini, Elena Cigalini, Tania Giangregorio, Alessandro Pecci, Tommaso Pippucci, Patrizia Noris, Ugo Ramenghi, Anna Savoia, Timo Siitonen
Publikováno v:
British Journal of Haematology. 183:276-288
The inherited thrombocytopenias (IT) are a heterogeneous group of diseases resulting from mutations in more than 30 different genes. Among them, ACTN1-related thrombocytopenia (ACTN1-RT; Online Mendelian Inheritance in Man: 615193) is one of the most
Autor:
Catarina Monteiro, Mónica Pereira, Marco Sampaio, Jorge Oliveira, Catarina Lau, Rosário Santos, Rui Matos, Inês Freitas, Margarida Lima, Marta Gonçalves, Ana R. Gonçalves, Sara Morais, Eugénia Cruz
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0235136 (2020)
PLoS ONE
PLoS ONE
BackgroundRare pathogenic variants in either theITGA2BorITGB3genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Synd
Autor:
Katrien Devreese, Jan Dierick, Anna Vantilborgh, Pieter M. De Kesel, Ariane Luyckx, Sarah Debussche, Kathleen Freson
Publikováno v:
International Journal of Laboratory Hematology. 42
Autor:
Ohsuke Migita, Daigo Hashimoto, Naohiro Miyashita, Hideki Goto, Kohei Okada, Masahiro Onozawa, Shinji Kunishima, Koji Hayasaka, Takeshi Kondo, Takanori Teshima, Kenichiro Hata, Masao Nakagawa, Takahiro Yamada, Kaoru Kahata
Publikováno v:
Annals of Hematology. 97:629-640
We identified a novel heterozygous ITGB3 p.T720del mutation in a pedigree with macrothrombocytopenia exhibiting aggregation dysfunction. Platelet aggregation induced by ADP and collagen was significantly reduced, while ristocetin aggregation was norm
Autor:
Vasiliki Gkalea, Elisabeth Elefant, Rémi Favier, Celine De Carne, Ruxanda Lapusneanu, A. Rigouzzo
Publikováno v:
A&A Practice. 10:10-12
MYH9-related disease (MYH9-RD) is an inherited rare autosomal dominant macrothrombocytopenia. Patients with MYH9-RD have giant platelets and leukocyte inclusion bodies caused by mutations in the MYH9 gene encoding the non-muscle myosin heavy chain II
Autor:
Olga Stehlíková, Michaela Pešová, Kamila Réblová, Petr Smejkal, Šárka Pospíšilová, Karol Pál, Jiřina Zavřelová, Jakub Trizuljak, Kateřina Staňo Kozubík, Jiří Mayer, Milan Pacejka, Michael Doubek, Lenka Radová
Publikováno v:
Platelets. 29(8)
Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed
Autor:
Michael Laffan, Nihr BioResource, Anne M. Kelly, Christopher J. Penkett, Daniel P. Hart, Claire Lentaigne, Jonathan Stephens, Paquita Nurden, Eric G. Huizinga, Kate Downes, Ernest Turro, Ilenia Simeoni, Andrew D Mumford, Daniel Greene, David J. Perry, Sofia Papadia, Sarah K Westbury, Willem H. Ouwehand, Kathelijne Peerlinck, R. Campbell Tait, Kathleen Freson, Suthesh Sivapalaratnam, Catherine Roughley, Shinji Kunishima, Kathleen Stirrups, William J. Astle
Publikováno v:
Blood, 129(4), 520. American Society of Hematology
The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in hemostasis. During the last 4 decades, it has become apparent that loss of function of any 1 of 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2db3cdfb6f03be2971ea9631c61a428
http://hdl.handle.net/10044/1/45319
http://hdl.handle.net/10044/1/45319
Autor:
Pio D'Adamo, Patrizia Noris, Silvia Giannini, Anna Savoia, Filomena Di Bari, Angela D'Eustacchio, Paolo Gresele, Emanuela Falcinelli, Luca Cecchetti, Carlo L. Balduini, Teresa Corazzi, Anna Maria Mezzasoma, Giuseppe Guglielmini
Publikováno v:
Haematologica. 94:663-669
BACKGROUND: Defects of integrin alpha(IIb)beta(3) are typical of Glanzmann's thrombasthenia, an inherited autosomal recessive bleeding disorder characterized by the failure of platelets to aggregate in response to all physiological agonists, but with