Literature DB >> 25634615

Inherited thrombocytopenias: the beat goes on.

A Koneti Rao1, Natthapol Songdej1.   

Abstract

In this issue of Blood, Bottega et al document mutations in ACTN1, which encodes the cytoskeletal protein α-actinin 1, in 10 of 239 consecutive probands with an inherited thrombocytopenia--making ACTN1 an important cause of familial thrombocytopenia.

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Year:  2015        PMID： 25634615      PMCID： PMC4311225          DOI： 10.1182/blood-2014-11-610675

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  10 in total

1.  A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.

Authors:  Vladimir T Manchev; Morgane Hilpert; Eliane Berrou; Ziane Elaib; Achille Aouba; Siham Boukour; Sylvie Souquere; Gerard Pierron; Philippe Rameau; Robert Andrews; François Lanza; Regis Bobe; William Vainchenker; Jean-Philippe Rosa; Marijke Bryckaert; Najet Debili; Remi Favier; Hana Raslova
Journal:  Blood       Date:  2014-07-24       Impact factor: 22.113

2.  ACTN1 mutations cause congenital macrothrombocytopenia.

Authors:  Shinji Kunishima; Yusuke Okuno; Kenichi Yoshida; Yuichi Shiraishi; Masashi Sanada; Hideki Muramatsu; Kenichi Chiba; Hiroko Tanaka; Koji Miyazaki; Michio Sakai; Masatoshi Ohtake; Ryoji Kobayashi; Akihiro Iguchi; Gen Niimi; Makoto Otsu; Yoshiyuki Takahashi; Satoru Miyano; Hidehiko Saito; Seiji Kojima; Seishi Ogawa
Journal:  Am J Hum Genet       Date:  2013-02-21       Impact factor: 11.025

3.  A dominant-negative GFI1B mutation in the gray platelet syndrome.

Authors:  Davide Monteferrario; Nikhita A Bolar; Anna E Marneth; Konnie M Hebeda; Saskia M Bergevoet; Hans Veenstra; Britta A P Laros-van Gorkom; Marius A MacKenzie; Cyrus Khandanpour; Lacramiora Botezatu; Erik Fransen; Guy Van Camp; Anthonie L Duijnhouwer; Simone Salemink; Brigith Willemsen; Gerwin Huls; Frank Preijers; Waander Van Heerde; Joop H Jansen; Marlies J E Kempers; Bart L Loeys; Lut Van Laer; Bert A Van der Reijden
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245

Review 4.  Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction.

Authors:  A Koneti Rao
Journal:  Hematol Oncol Clin North Am       Date:  2013-06       Impact factor: 3.722

Review 5.  Congenital thrombocytopenia: clinical manifestations, laboratory abnormalities, and molecular defects of a heterogeneous group of conditions.

Authors:  Riten Kumar; Walter H A Kahr
Journal:  Hematol Oncol Clin North Am       Date:  2013-06       Impact factor: 3.722

6.  Historical hematology: May-Hegglin anomaly.

Authors:  Hidehiko Saito; Shinji Kunishima
Journal:  Am J Hematol       Date:  2008-04       Impact factor: 10.047

7.  ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Authors:  Roberta Bottega; Caterina Marconi; Michela Faleschini; Gabriele Baj; Claudia Cagioni; Alessandro Pecci; Tommaso Pippucci; Ugo Ramenghi; Simonetta Pardini; Loretta Ngu; Carlo Baronci; Shinji Kunishima; Carlo L Balduini; Marco Seri; Anna Savoia; Patrizia Noris
Journal:  Blood       Date:  2014-10-31       Impact factor: 22.113

8.  Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.

Authors:  Dominique Bluteau; Alessandra Balduini; Nathalie Balayn; Manuela Currao; Paquita Nurden; Caroline Deswarte; Guy Leverger; Patrizia Noris; Silverio Perrotta; Eric Solary; William Vainchenker; Najet Debili; Remi Favier; Hana Raslova
Journal:  J Clin Invest       Date:  2014-01-16       Impact factor: 14.808

Review 9.  Diagnosis and management of inherited thrombocytopenias.

Authors:  Carlo Luigi Balduini; Alessandro Pecci; Patrizia Noris
Journal:  Semin Thromb Hemost       Date:  2013-02-08       Impact factor: 4.180

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

Authors:  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
Journal:  PLoS One       Date:  2013-09-17       Impact factor: 3.240
  10 in total
  3 in total

1.  Parsing the repertoire of GPIb-IX-V disorders.

Authors:  A Koneti Rao; Natthapol Songdej
Journal:  Blood       Date:  2017-01-26       Impact factor: 22.113

2.  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

3.  Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Authors:  Zihni Onur Çalışkaner; Abdullah Abdul Waheed; Merve Tuzlakoğlu Öztürk; Yeşim Oymak; Uygar Halis Tazebay; Nejat Akar; Ayten Kandilci; Didem Torun Özkan
Journal:  Turk J Med Sci       Date:  2021-04-30       Impact factor: 0.973
  3 in total

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