Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro

Ribosomal protein gene deletions in Diamond-Blackfan anemia

(2011) J. E. Farrar et al.   BLOOD

Animal Models of Diamond Blackfan Anemia

(2011) Kelly A. McGowan et al.   SEMINARS IN HEMATOLOGY

Diamond Blackfan Anemia: Ribosomal Proteins Going Rogue

(2011) Steven R. Ellis et al.   SEMINARS IN HEMATOLOGY

Diamond Blackfan Anemia Treatment: Past, Present, and Future

(2011) Anupama Narla et al.   SEMINARS IN HEMATOLOGY

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

Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond–Blackfan anemia

(2009) Jitendra Badhai et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Ribosomal protein S3: A multi-functional protein that interacts with both p53 and MDM2 through its KH domain

(2009) Sridevi Yadavilli et al.   DNA REPAIR

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

(2009) P. Quarello et al.   HAEMATOLOGICA

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia

(2009) Radek Cmejla et al.   HUMAN MUTATION

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

Loss of Ribosomal Protein L11 Affects Zebrafish Embryonic Development through a p53-Dependent Apoptotic Response

(2009) Anirban Chakraborty et al.   PLoS One

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

Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells

(2008) Madoka Kuramitsu et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

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

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia

(2008) Tamayo Uechi et al.   HUMAN MOLECULAR GENETICS

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

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

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

Cooperation between the ribosomal proteins L5 and L11 in the p53 pathway

(2008) H F Horn et al.   ONCOGENE

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