Frameshift mutation in p53 regulatorRPL26is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

(2010) Leana Doherty et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia

(2010) E. E. Devlin et al.   BLOOD

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

(2010) S. Dutt et al.   BLOOD

How I treat Diamond-Blackfan anemia

(2010) A. Vlachos et al.   BLOOD

5'-3'-UTR interactions regulate p53 mRNA translation and provide a target for modulating p53 induction after DNA damage

(2010) J. Chen et al.   GENES & DEVELOPMENT

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits

(2010) Marie-Françoise O’Donohue et al.   JOURNAL OF CELL BIOLOGY

Negative regulation of HDM2 to attenuate p53 degradation by ribosomal protein L26

(2010) Y. Zhang et al.   NUCLEIC ACIDS RESEARCH

Crystal Structure of the Eukaryotic Ribosome

(2010) A. Ben-Shem et al.   SCIENCE

Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction

(2009) Stefano Fumagalli et al.   NATURE CELL BIOLOGY

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

(2008) Hanna T. Gazda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

(2008) J. E. Farrar et al.   BLOOD

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

(2008) N. Danilova et al.   BLOOD

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

(2008) Adrianna Vlachos et al.   BRITISH JOURNAL OF HAEMATOLOGY

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder

(2008) V. Choesmel et al.   HUMAN MOLECULAR GENETICS

Mdm2 Regulates p53 mRNA Translation through Inhibitory Interactions with Ribosomal Protein L26

(2008) Yaara Ofir-Rosenfeld et al.   MOLECULAR CELL

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

(2008) Benjamin L. Ebert et al.   NATURE

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

Ribosomal Protein S19 Deficiency Leads to Reduced Proliferation and Increased Apoptosis but Does Not Affect Terminal Erythroid Differentiation in a Cell Line Model of Diamond-Blackfan Anemia

(2007) Koich Miyake et al.   STEM CELLS