Diamond Blackfan anemia and ribosome biogenesis: Introduction

Seminars in Hematology

Volumn 48, Issue 2, 2011, Pages 73-74

  Ebert, Benjamin ^a   Lipton, Jeffrey M ^b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b DONALD AND BARBARA ZUCKER SCHOOL OF MEDICINE AT HOFSTRA NORTHWELL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RIBOSOME PROTEIN; RIBOSOME PROTEIN S19; UNCLASSIFIED DRUG;

BIOGENESIS; BLACKFAN DIAMOND ANEMIA; CHROMOSOME ABERRATION; DBA GENE; DISEASE SEVERITY; EDITORIAL; ERYTHROCYTE TRANSFUSION; GENE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; MACROCYTIC ANEMIA; MUTATIONAL ANALYSIS; NONHUMAN; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; RIBOSOME; RPL5 GENE; RPS19 GENE;

ANEMIA, DIAMOND-BLACKFAN; ANIMALS; HUMANS; RIBOSOMAL PROTEINS; RIBOSOMES;

EID: 79952762715     PISSN: 00371963     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.seminhematol.2011.01.003     Document Type: Editorial

References (4)

1. Draptchinskaia N., Gustavsson P., Andersson B., et al. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 1999, 21:169-175.
2. Diamond L.K., Blackfan K.D. Hypoplastic anemia. Am J Dis Child 1938, 56:464.
3. Fumagalli S., Di Cara A., Neb-Gulati A., et al. Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction. Nat Cell Biol 2009, 11:501-508.
4. Narla A., Ebert B.L. Ribosomopathies: human disorders of ribosome dysfunction. Blood 2010, 115:3196-3205.