Related references
Note: Only part of the references are listed.Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
Leana Doherty et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations
Paola Quarello et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2010)
Severe iron overload in Blackfan-Diamond anemia: A case-control study
Simona Roggero et al.
AMERICAN JOURNAL OF HEMATOLOGY (2009)
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia
Jitendra Badhai et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Signaling to p53: Ribosomal Proteins Find Their Way
Yanping Zhang et al.
CANCER CELL (2009)
Regulation of nucleolar signalling to p53 through NEDDylation of L11
Anders Sundqvist et al.
EMBO REPORTS (2009)
Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis
Jeffrey M. Lipton et al.
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2009)
Identification of Mutations in the Ribosomal Protein L5 (RPL5) and Ribosomal Protein L11 (RPL11) Genes in Czech Patients With Diamond-Blackfan Anemia
Radek Cmejla et al.
HUMAN MUTATION (2009)
Ribosomal Protein S7 Is Both a Regulator and a Substrate of MDM2
Yan Zhu et al.
MOLECULAR CELL (2009)
Absence of nucleolar disruption after impairment of 40s ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction
Stefano Fumagalli et al.
NATURE CELL BIOLOGY (2009)
Loss of Ribosomal Protein L11 Affects Zebrafish Embryonic Development through a p53-Dependent Apoptotic Response
Anirban Chakraborty et al.
PLOS ONE (2009)
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients
Hanna T. Gazda et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Abnormalities of the large ribosomal subunit protein, Rp135a, in Diamond-Blackfan anemia
Jason E. Farrar et al.
BLOOD (2008)
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
Adrianna Vlachos et al.
BRITISH JOURNAL OF HAEMATOLOGY (2008)
Gene therapy of Diamond Blackfan anemia CD34+ cells leads to improved erythroid development and engraftment following transplantation
Johan Flygare et al.
EXPERIMENTAL HEMATOLOGY (2008)
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia
Aurore Cretien et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2008)
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
Valerie Choesmel et al.
HUMAN MOLECULAR GENETICS (2008)
A New Database for Ribosomal Protein Genes Which Are Mutated in Diamond-Blackfan Anemia
Ilenia Boria et al.
HUMAN MUTATION (2008)
RPS19 mutations in patients with Diamond-Blackfan anemia
Maria Francesca Campagnoli et al.
HUMAN MUTATION (2008)
Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker
Martin Wildeman et al.
HUMAN MUTATION (2008)
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
Radek Cmejla et al.
HUMAN MUTATION (2007)
Feedback regulation of c-Myc by ribosomal protein L11
Mu-Shui Dai et al.
CELL CYCLE (2007)
Assembly factors Rpf2 and Rrs1 recruit 5S rRNA and ribosomal proteins rpL5 and rpL11 into nascent ribosomes
Jingyu Zhang et al.
GENES & DEVELOPMENT (2007)
Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function
D. Chen et al.
ONCOGENE (2007)
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small riblosomal subunit production
Rachel A. Idol et al.
BLOOD CELLS MOLECULES AND DISEASES (2007)
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits
Johan Flygare et al.
BLOOD (2007)
Impaired ribosome biogenesis in Diamond-Blackfan anemia
Valerie Choesmel et al.
BLOOD (2007)
Ribosomal protein S24 gene is mutated in diamond-blackfan anemia
Hanna T. Gazda et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Diamond blackfan anemia; New paradigms for a not so pure inherited red cell aplasia
Jeffrey M. Lipton
SEMINARS IN HEMATOLOGY (2006)
Bone marrow transplantation for Diamond-Blackfan anemia
V Roy et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2005)
LOVD: Easy creation of a locus-specific sequence variation database using an LSDB-in-a-Box approach
IFAC Fokkema et al.
HUMAN MUTATION (2005)
Human ribosomal protein S26 suppresses the splicing of its pre-mRNA
AV Ivanov et al.
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION (2005)
Pre-ribosomes on the road from the nucleolus to the cytoplasm
H Tschochner et al.
TRENDS IN CELL BIOLOGY (2003)
Mutations in SBDS are associated with Shwachman-Diamond syndrome
GRB Boocock et al.
NATURE GENETICS (2003)
Ribosomal protein L11 negatively regulates oncoprotein MDM2 and mediates a p53-dependent ribosomal-stress checkpoint pathway
YP Zhang et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
D Tentler et al.
JOURNAL OF MEDICAL GENETICS (2000)
Share Paper
