Literature DB >> 29296966

An intracytoplasmic β3 Leu718 deletion in a patient with a novel platelet phenotype.

Paquita Nurden1,2, Jean-Claude Bordet3,4, Xavier Pillois1,5, Alan T Nurden1.   

Abstract

A novel heterozygous ITGB3 Leu718del shows loss of synchronization between the intracytoplasmic tail of β3 with that of αIIb.Decreased activation of αIIbβ3 accompanies enlarged platelets that contain giant granules and give a poor aggregation response.

Entities:  

Year:  2017        PMID： 29296966      PMCID： PMC5728455          DOI： 10.1182/bloodadvances.2016002808

Source DB:  PubMed          Journal:  Blood Adv        ISSN： 2473-9529


  25 in total

1.  A Ser752-->Pro substitution in the cytoplasmic domain of beta3 in a Glanzmann thrombasthenia variant fails to prevent interactions between the alphaIIbbeta3 integrin and the platelet granule pool of fibrinogen.

Authors:  Paquita Nurden; Christel Poujol; Joelle Winckler; Robert Combrié; Jacques P Caen; Alan T Nurden
Journal:  Br J Haematol       Date:  2002-09       Impact factor: 6.998

2.  Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.

Authors:  Alan T Nurden; Xavier Pillois; Mathieu Fiore; Marie-Christine Alessi; Mariana Bonduel; Marie Dreyfus; Jenny Goudemand; Yves Gruel; Schéhérazade Benabdallah-Guerida; Véronique Latger-Cannard; Claude Négrier; Diane Nugent; Roseline D Oiron; Margaret L Rand; Pierre Sié; Marc Trossaert; Lorenzo Alberio; Nathalie Martins; Peggy Sirvain-Trukniewicz; Arnaud Couloux; Mathias Canault; Juan Pablo Fronthroth; Mathilde Fretigny; Paquita Nurden; Roland Heilig; Christine Vinciguerra
Journal:  Hum Mutat       Date:  2015-05       Impact factor: 4.878

3.  A defect of platelet aggregation associated with an abnormal distribution of glycoprotein IIb-IIIa complexes within the platelet: the cause of a lifelong bleeding disorder.

Authors:  R Hardisty; D Pidard; A Cox; T Nokes; C Legrand; C Bouillot; A Pannocchia; E Heilmann; P Hourdillé; S Bellucci
Journal:  Blood       Date:  1992-08-01       Impact factor: 22.113

4.  Structural basis of integrin activation by talin.

Authors:  Kate L Wegener; Anthony W Partridge; Jaewon Han; Andrew R Pickford; Robert C Liddington; Mark H Ginsberg; Iain D Campbell
Journal:  Cell       Date:  2007-01-12       Impact factor: 41.582

5.  Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.

Authors:  Shinji Kunishima; Hirokazu Kashiwagi; Makoto Otsu; Naoya Takayama; Koji Eto; Masafumi Onodera; Yuji Miyajima; Yasushi Takamatsu; Junji Suzumiya; Kousaku Matsubara; Yoshiaki Tomiyama; Hidehiko Saito
Journal:  Blood       Date:  2011-03-31       Impact factor: 22.113

6.  A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia.

Authors:  N Rosenberg; H Hauschner; H Peretz; R Mor-Cohen; M Landau; B Shenkman; G Kenet; B S Coller; A A Awidi; U Seligsohn
Journal:  J Thromb Haemost       Date:  2005-12       Impact factor: 5.824

7.  An inherited bleeding disorder linked to a defective interaction between ADP and its receptor on platelets. Its influence on glycoprotein IIb-IIIa complex function.

Authors:  P Nurden; P Savi; E Heilmann; C Bihour; J M Herbert; J P Maffrand; A Nurden
Journal:  J Clin Invest       Date:  1995-04       Impact factor: 14.808

8.  The conserved membrane-proximal region of an integrin cytoplasmic domain specifies ligand binding affinity.

Authors:  P E Hughes; T E O'Toole; J Ylänne; S J Shattil; M H Ginsberg
Journal:  J Biol Chem       Date:  1995-05-26       Impact factor: 5.157

9.  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

10.  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
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  3 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.  αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.

Authors:  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
Journal:  PLoS One       Date:  2020-12-04       Impact factor: 3.240

Review 3.  Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?

Authors:  Alan Nurden
Journal:  J Blood Med       Date:  2021-07-08
  3 in total

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