Literature DB >> 26763766

Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.

Paola Quarello1, Emanuela Garelli2, Adriana Carando2, Cecilia Mancini3, Luiselda Foglia2, Carlotta Botto2, Piero Farruggia4, Kim De Keersmaecker5,6, Anna Aspesi7, Steve R Ellis8, Irma Dianzani7, Ugo Ramenghi2.   

Abstract

Diamond-Blackfan anaemia (DBA) is an inherited disease characterized by pure erythroid aplasia that has been tagged as a 'ribosomopathy'. We report a multi-centre study focused on the analysis of rRNA processing of 53 Italian DBA patients using capillary electrophoresis analysis of rRNA maturation of the 40S and 60S ribosomal subunits. The ratio of 28S/18S rRNA was higher in patients with mutated ribosomal proteins (RPs) of the small ribosomal subunit. In contrast, patients with mutated RPs of the large ribosomal subunit (RPLs) had a lower 28S/18S ratio. The assay reported here would be amenable for development as a diagnostic tool.
© 2016 John Wiley & Sons Ltd.

Entities:  

Keywords:  Diamond Blackfan anaemia; RP gene; diagnosis; mutation; rRNA

Mesh：

Substances：

Year:  2016        PMID： 26763766     DOI： 10.1111/bjh.13880

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


  12 in total

1.  Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.

Authors:  Marjolijn C J Jongmans; Illja J Diets; Paola Quarello; Emanuela Garelli; Roland P Kuiper; Rolph Pfundt
Journal:  Haematologica       Date:  2018-09-13       Impact factor: 9.941

2.  Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.

Authors:  Saleh Bhar; Fujun Zhou; Lucas C Reineke; Danna K Morris; Payal P Khincha; Neelam Giri; Lisa Mirabello; Katie Bergstrom; Laramie D Lemon; Christopher L Williams; Yukimatsu Toh; M Tarek Elghetany; Richard E Lloyd; Blanche P Alter; Sharon A Savage; Alison A Bertuch
Journal:  Hum Mutat       Date:  2020-08-30       Impact factor: 4.878

3.  Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.

Authors:  Giada Juli; Angelo Gismondi; Valentina Monteleone; Sara Caldarola; Valentina Iadevaia; Anna Aspesi; Irma Dianzani; Christopher G Proud; Fabrizio Loreni
Journal:  Sci Rep       Date:  2016-10-13       Impact factor: 4.379

Review 4.  Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome.

Authors:  K M Sakamoto; A Narla
Journal:  Leukemia       Date:  2017-09-08       Impact factor: 11.528

5.  Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.

Authors:  Anna Aspesi; Valentina Monteleone; Marta Betti; Chiara Actis; Giulia Morleo; Marika Sculco; Simonetta Guarrera; Marcin W Wlodarski; Ugo Ramenghi; Claudio Santoro; Steven R Ellis; Fabrizio Loreni; Antonia Follenzi; Irma Dianzani
Journal:  Sci Rep       Date:  2017-09-20       Impact factor: 4.379

Review 6.  Cancer Biogenesis in Ribosomopathies.

Authors:  Sergey O Sulima; Kim R Kampen; Kim De Keersmaecker
Journal:  Cells       Date:  2019-03-11       Impact factor: 6.600

Review 7.  How I manage children with Diamond-Blackfan anaemia.

Authors:  Marije Bartels; Marc Bierings
Journal:  Br J Haematol       Date:  2018-12-04       Impact factor: 6.998

8.  Hallmarks of ribosomopathies.

Authors:  Kim R Kampen; Sergey O Sulima; Stijn Vereecke; Kim De Keersmaecker
Journal:  Nucleic Acids Res       Date:  2020-02-20       Impact factor: 16.971

9.  A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.

Authors:  Anna Aspesi; Marta Betti; Marika Sculco; Chiara Actis; Cristina Olgasi; Marcin W Wlodarski; Adrianna Vlachos; Jeffrey M Lipton; Ugo Ramenghi; Claudio Santoro; Antonia Follenzi; Steven R Ellis; Irma Dianzani
Journal:  Hum Mutat       Date:  2018-05-28       Impact factor: 4.878

Review 10.  Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases.

Authors:  Maxime Aubert; Marie-Françoise O'Donohue; Simon Lebaron; Pierre-Emmanuel Gleizes
Journal:  Biomolecules       Date:  2018-10-24
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