Literature DB >> 26769223

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.

Caterina Marconi, Christian A Di Buduo, Serena Barozzi, Flavia Palombo, Simonetta Pardini, Carlo Zaninetti, Tommaso Pippucci, Patrizia Noris, Alessandra Balduini, Marco Seri, Alessandro Pecci1.   

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Year:  2016        PMID： 26769223     DOI： 10.1160/TH15-11-0884

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN： 0340-6245            Impact factor:   5.249


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  12 in total

1.  Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family.

Authors:  Wei Su; Ruo-Chen Wang; Mahesh Kumar Lohano; Li Wang; Peng Zhu; Yue Luo; Li-Juan Guo; Qing Lv; Hong Jiang; Jun-Han Wang; Li Mei; Jun Weng; Li Su; Nian-Guo Dong
Journal:  Curr Med Sci       Date:  2018-12-07

2.  Slowed decay of mRNAs enhances platelet specific translation.

Authors:  Eric W Mills; Rachel Green; Nicholas T Ingolia
Journal:  Blood       Date:  2017-02-17       Impact factor: 22.113

3.  Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.

Authors:  Ben Johnson; Gillian C Lowe; Jane Futterer; Marie Lordkipanidzé; David MacDonald; Michael A Simpson; Isabel Sanchez-Guiú; Sian Drake; Danai Bem; Vincenzo Leo; Sarah J Fletcher; Ban Dawood; José Rivera; David Allsup; Tina Biss; Paula Hb Bolton-Maggs; Peter Collins; Nicola Curry; Charlotte Grimley; Beki James; Mike Makris; Jayashree Motwani; Sue Pavord; Katherine Talks; Jecko Thachil; Jonathan Wilde; Mike Williams; Paul Harrison; Paul Gissen; Stuart Mundell; Andrew Mumford; Martina E Daly; Steve P Watson; Neil V Morgan
Journal:  Haematologica       Date:  2016-06-16       Impact factor: 9.941

4.  Heterozygous mutation SLFN14 K208N in mice mediates species-specific differences in platelet and erythroid lineage commitment.

Authors:  Rachel J Stapley; Christopher W Smith; Elizabeth J Haining; Andrea Bacon; Sian Lax; Vera P Pisareva; Andrey V Pisarev; Steve P Watson; Abdullah O Khan; Neil V Morgan
Journal:  Blood Adv       Date:  2021-01-26

5.  Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients.

Authors:  Christian A Di Buduo; Maria Adele Alberelli; Ana C Glembostky; Gianmarco Podda; Paola R Lev; Marco Cattaneo; Raffaele Landolfi; Paula G Heller; Alessandra Balduini; Erica De Candia
Journal:  Sci Rep       Date:  2016-03-18       Impact factor: 4.379

6.  Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.

Authors:  Sarah J Fletcher; Vera P Pisareva; Abdullah O Khan; Andrew Tcherepanov; Neil V Morgan; Andrey V Pisarev
Journal:  RNA       Date:  2018-04-20       Impact factor: 4.942

7.  Dynamic Regulation of a Ribosome Rescue Pathway in Erythroid Cells and Platelets.

Authors:  Eric W Mills; Jamie Wangen; Rachel Green; Nicholas T Ingolia
Journal:  Cell Rep       Date:  2016-09-27       Impact factor: 9.423

Review 8.  Inherited platelet disorders: toward DNA-based diagnosis.

Authors:  Claire Lentaigne; Kathleen Freson; Michael A Laffan; Ernest Turro; Willem H Ouwehand
Journal:  Blood       Date:  2016-04-19       Impact factor: 25.476

Review 9.  SLFN14 gene mutations associated with bleeding.

Authors:  Rachel J Stapley; Vera P Pisareva; Andrey V Pisarev; Neil V Morgan
Journal:  Platelets       Date:  2019-08-04       Impact factor: 3.862

Review 10.  Inherited platelet disorders: Insight from platelet genomics using next-generation sequencing.

Authors:  Annabel Maclachlan; Steve P Watson; Neil V Morgan
Journal:  Platelets       Date:  2016-06-27       Impact factor: 3.862
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