Literature DB >> 29439184

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations.

Loredana Bury1, Eva Zetterberg2, Eva B Leinøe3, Emanuela Falcinelli4, Alessandro Marturano4, Giorgia Manni4, Alan T Nurden5, Paolo Gresele4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 29439184      PMCID： PMC6058799          DOI： 10.3324/haematol.2017.180927

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


× No keyword cloud information.
  15 in total

1.  The novel S527F mutation in the integrin beta3 chain induces a high affinity alphaIIbbeta3 receptor by hindering adoption of the bent conformation.

Authors:  Karen Vanhoorelbeke; Simon F De Meyer; Inge Pareyn; Chantal Melchior; Sebastien Plançon; Christiane Margue; Olivier Pradier; Pierre Fondu; Nelly Kieffer; Timothy A Springer; Hans Deckmyn
Journal:  J Biol Chem       Date:  2009-03-27       Impact factor: 5.157

Review 2.  αIIbβ3: structure and function.

Authors:  B S Coller
Journal:  J Thromb Haemost       Date:  2015-06       Impact factor: 5.824

Review 3.  Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation.

Authors:  Paolo Gresele; Loredana Bury; Emanuela Falcinelli
Journal:  Semin Thromb Hemost       Date:  2016-03-10       Impact factor: 4.180

4.  A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia.

Authors:  Cedric Ghevaert; Alexandre Salsmann; Nicholas A Watkins; Elisabeth Schaffner-Reckinger; Angela Rankin; Stephen F Garner; Jonathan Stephens; Graham A Smith; Najet Debili; William Vainchenker; Philip G de Groot; James A Huntington; Mike Laffan; Nelly Kieffer; Willem H Ouwehand
Journal:  Blood       Date:  2007-12-07       Impact factor: 22.113

5.  Mutation of a conserved asparagine in the I-like domain promotes constitutively active integrins alphaLbeta2 and alphaIIbbeta3.

Authors:  Ming Cheng; Shen-Yun Foo; Min-Long Shi; Ren-Hong Tang; Le-Sheng Kong; S K Alex Law; Suet-Mien Tan
Journal:  J Biol Chem       Date:  2007-04-26       Impact factor: 5.157

6.  A novel congenital dysprothrombinemia leading to defective prothrombin maturation.

Authors:  Valeria Bafunno; Loredana Bury; Giovanni Luca Tiscia; Tiziana Fierro; Giovanni Favuzzi; Rocco Caliandro; Francesco Sessa; Elvira Grandone; Maurizio Margaglione; Paolo Gresele
Journal:  Thromb Res       Date:  2014-09-08       Impact factor: 3.944

7.  Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families.

Authors:  Paolo Gresele; Emanuela Falcinelli; Silvia Giannini; Pio D'Adamo; Angela D'Eustacchio; Teresa Corazzi; Anna Maria Mezzasoma; Filomena Di Bari; Giuseppe Guglielmini; Luca Cecchetti; Patrizia Noris; Carlo L Balduini; Anna Savoia
Journal:  Haematologica       Date:  2009-03-31       Impact factor: 9.941

8.  Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes.

Authors:  Loredana Bury; Alessandro Malara; Paolo Gresele; Alessandra Balduini
Journal:  PLoS One       Date:  2012-04-23       Impact factor: 3.240

9.  Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia.

Authors:  Loredana Bury; Emanuela Falcinelli; Davide Chiasserini; Timothy A Springer; Joseph E Italiano; Paolo Gresele
Journal:  Haematologica       Date:  2015-10-09       Impact factor: 9.941

10.  Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype.

Authors:  Hirokazu Kashiwagi; Shinji Kunishima; Kazunobu Kiyomizu; Yoshiro Amano; Hiroyuki Shimada; Masashi Morishita; Yuzuru Kanakura; Yoshiaki Tomiyama
Journal:  Mol Genet Genomic Med       Date:  2013-04-22       Impact factor: 2.183
View more
  4 in total

Review 1.  Inherited thrombocytopenias: history, advances and perspectives.

Authors:  Alan T Nurden; Paquita Nurden
Journal:  Haematologica       Date:  2020-06-11       Impact factor: 9.941

2.  Expanding the genetic spectrum of TUBB1-related thrombocytopenia.

Authors:  Verónica Palma-Barqueros; Loredana Bury; Shinji Kunishima; María Luisa Lozano; Augustín Rodríguez-Alen; Nuria Revilla; Natalia Bohdan; José Padilla; María P Fernández-Pérez; María Eugenia de la Morena-Barrio; Ana Marín-Quilez; Rocío Benito; María F López-Fernández; Shally Marcellini; Ana Zamora-Cánovas; Vicente Vicente; Constantino Martínez; Paolo Gresele; José M Bastida; José Rivera
Journal:  Blood Adv       Date:  2021-12-28

3.  A p.Arg127Gln variant in GPIbα LRR5 allosterically enhances affinity for VWF: a novel form of platelet-type VWD.

Authors:  Loredana Bury; Emanuela Falcinelli; Haripriya Kuchi Bhotla; Anna Maria Mezzasoma; Giuseppe Guglielmini; Alexander Tischer; Laurie Moon-Tasson; Matthew Auton; Paolo Gresele
Journal:  Blood Adv       Date:  2022-04-12

Review 4.  Exogenous Integrin αIIbβ3 Inhibitors Revisited: Past, Present and Future Applications.

Authors:  Danique L van den Kerkhof; Paola E J van der Meijden; Tilman M Hackeng; Ingrid Dijkgraaf
Journal:  Int J Mol Sci       Date:  2021-03-25       Impact factor: 5.923
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.