Literature DB >> 27408399

A Novel Mutation of Ribosomal Protein S19 Gene in a Chinese Child with Diamond-Blackfan Anemia.

Hua Jiang1, Man-Yu Wu2, Dong-Zhi Li2.   

Abstract

Entities:  

Year:  2015        PMID： 27408399      PMCID： PMC4925495          DOI： 10.1007/s12288-015-0524-3

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN： 0971-4502            Impact factor:   0.900


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  8 in total

1.  Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.

Authors:  Johan Flygare; Anna Aspesi; Joshua C Bailey; Koichi Miyake; Jacqueline M Caffrey; Stefan Karlsson; Steven R Ellis
Journal:  Blood       Date:  2006-09-21       Impact factor: 22.113

2.  Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.

Authors:  Polyxeni Delaporta; Christalena Sofocleous; Eftichia Stiakaki; Sophia Polychronopoulou; Marina Economou; Lydia Kossiva; Stavroula Kostaridou; Antonis Kattamis
Journal:  Pediatr Blood Cancer       Date:  2014-08-17       Impact factor: 3.167

3.  Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.

Authors:  Hans Matsson; Edward J Davey; Natalia Draptchinskaia; Isao Hamaguchi; Andreas Ooka; Per Levéen; Erik Forsberg; Stefan Karlsson; Niklas Dahl
Journal:  Mol Cell Biol       Date:  2004-05       Impact factor: 4.272

4.  Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

Authors:  Michael Landowski; Marie-Françoise O'Donohue; Christopher Buros; Roxanne Ghazvinian; Nathalie Montel-Lehry; Adrianna Vlachos; Colin A Sieff; Peter E Newburger; Edyta Niewiadomska; Michal Matysiak; Bertil Glader; Eva Atsidaftos; Jeffrey M Lipton; Alan H Beggs; Pierre-Emmanuel Gleizes; Hanna T Gazda
Journal:  Hum Genet       Date:  2013-06-30       Impact factor: 4.132

Review 5.  Diamond Blackfan anemia: a model for the translational approach to understanding human disease.

Authors:  Adrianna Vlachos; Lionel Blanc; Jeffrey M Lipton
Journal:  Expert Rev Hematol       Date:  2014-03-26       Impact factor: 2.929

6.  The ribosomal protein Rps15p is required for nuclear exit of the 40S subunit precursors in yeast.

Authors:  Isabelle Léger-Silvestre; Philipp Milkereit; Sébastien Ferreira-Cerca; Cosmin Saveanu; Jean-Claude Rousselle; Valérie Choesmel; Cécile Guinefoleau; Nicole Gas; Pierre-Emmanuel Gleizes
Journal:  EMBO J       Date:  2004-05-27       Impact factor: 11.598

7.  The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Authors:  N Draptchinskaia; P Gustavsson; B Andersson; M Pettersson; T N Willig; I Dianzani; S Ball; G Tchernia; J Klar; H Matsson; D Tentler; N Mohandas; B Carlsson; N Dahl
Journal:  Nat Genet       Date:  1999-02       Impact factor: 38.330

8.  Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.

Authors:  Lynn A Gregory; Almass-Houd Aguissa-Touré; Noël Pinaud; Pierre Legrand; Pierre-Emmanuel Gleizes; Sébastien Fribourg
Journal:  Nucleic Acids Res       Date:  2007-08-28       Impact factor: 16.971
  8 in total

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