Literature DB >> 27905099

A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly.

M Fiore1, C Goulas2, X Pillois1,3.   

Abstract

Entities:  

Keywords:  TUBB1 gene; dominant-negative effect; macrothrombocytopenia; truncating mutation

Mesh：

Substances：

Year:  2016        PMID： 27905099     DOI： 10.1111/cge.12879

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Authors:  Romain Luscan; Sabrina Mechaussier; Antoine Paul; Guoling Tian; Xavier Gérard; Sabine Defoort-Dellhemmes; Natalie Loundon; Isabelle Audo; Sophie Bonnin; Jean-François LeGargasson; Julien Dumont; Nicolas Goudin; Meriem Garfa-Traoré; Marc Bras; Aurore Pouliet; Bettina Bessières; Nathalie Boddaert; José-Alain Sahel; Stanislas Lyonnet; Josseline Kaplan; Nicholas J Cowan; Jean-Michel Rozet; Sandrine Marlin; Isabelle Perrault
Journal:  Am J Hum Genet       Date:  2017-11-30       Impact factor: 11.025

2.  High-throughput platelet spreading analysis: a tool for the diagnosis of platelet-based bleeding disorders.

Authors:  Abdullah O Khan; Annabel Maclachlan; Gillian C Lowe; Phillip L R Nicolson; Rashid Al Ghaithi; Steven G Thomas; Steve P Watson; Jeremy A Pike; Neil V Morgan
Journal:  Haematologica       Date:  2019-06-20       Impact factor: 9.941

3.  Rare variants in drug target genes contributing to complex diseases, phenome-wide.

Authors:  Shefali Setia Verma; Navya Josyula; Anurag Verma; Xinyuan Zhang; Yogasudha Veturi; Frederick E Dewey; Dustin N Hartzel; Daniel R Lavage; Joe Leader; Marylyn D Ritchie; Sarah A Pendergrass
Journal:  Sci Rep       Date:  2018-03-15       Impact factor: 4.379

Review 4.  Tubulin in Platelets: When the Shape Matters.

Authors:  Ernesto José Cuenca-Zamora; Francisca Ferrer-Marín; José Rivera; Raúl Teruel-Montoya
Journal:  Int J Mol Sci       Date:  2019-07-16       Impact factor: 5.923

5.  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

Review 6.  Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease.

Authors:  Marlie H Fisher; Jorge Di Paola
Journal:  Res Pract Thromb Haemost       Date:  2018-07-18

7.  TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology.

Authors:  Athanasia Stoupa; Frédéric Adam; Dulanjalee Kariyawasam; Catherine Strassel; Sanjay Gawade; Gabor Szinnai; Alexandre Kauskot; Dominique Lasne; Carsten Janke; Kathiresan Natarajan; Alain Schmitt; Christine Bole-Feysot; Patrick Nitschke; Juliane Léger; Fabienne Jabot-Hanin; Frédéric Tores; Anita Michel; Arnold Munnich; Claude Besmond; Raphaël Scharfmann; François Lanza; Delphine Borgel; Michel Polak; Aurore Carré
Journal:  EMBO Mol Med       Date:  2018-12       Impact factor: 12.137

8.  Post-translational polymodification of β1-tubulin regulates motor protein localisation in platelet production and function.

Authors:  Abdullah O Khan; Alexandre Slater; Annabel Maclachlan; Phillip L R Nicolson; Jeremy A Pike; Jasmeet S Reyat; Jack Yule; Rachel Stapley; Julie Rayes; Steven G Thomas; Neil V Morgan
Journal:  Haematologica       Date:  2022-01-01       Impact factor: 9.941

9.  Revisiting the Role of ß-Tubulin in Drosophila Development: β-tubulin60D is not an Essential Gene, and its Novel Pin 1 Allele has a Tissue-Specific Dominant-Negative Impact.

Authors:  Ramesh Kumar Krishnan; Naomi Halachmi; Raju Baskar; Anna Bakhrat; Raz Zarivach; Adi Salzberg; Uri Abdu
Journal:  Front Cell Dev Biol       Date:  2022-01-17
  9 in total

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