The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders

Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia

(2012) P. Jaako et al.   BLOOD

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

(2012) M. Kuramitsu et al.   BLOOD

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

(2012) A. Vlachos et al.   BLOOD

Inactivation of ribosomal protein L22 promotes transformation by induction of the stemness factor, Lin28B

(2012) S. Rao et al.   BLOOD

L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway

(2012) E. M. Payne et al.   BLOOD

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

(2012) N. Burwick et al.   BLOOD

Suprainduction of p53 by disruption of 40S and 60S ribosome biogenesis leads to the activation of a novel G2/M checkpoint

(2012) S. Fumagalli et al.   GENES & DEVELOPMENT

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

(2012) P. Quarello et al.   HAEMATOLOGICA

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

(2012) Hanna T. Gazda et al.   HUMAN MUTATION

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

(2012) Vijay G. Sankaran et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

(2012) Kim De Keersmaecker et al.   NATURE GENETICS

Prognostic Relevance of Integrated Genetic Profiling in Acute Myeloid Leukemia

(2012) Jay P. Patel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ribosomal protein S14 unties the MDM2–p53 loop upon ribosomal stress

(2012) X Zhou et al.   ONCOGENE

Identification of ribosomal protein S25 (RPS25)–MDM2–p53 regulatory feedback loop

(2012) X Zhang et al.   ONCOGENE

Progress towards Mechanism-Based Treatment for Diamond-Blackfan Anemia

(2012) Sara E. Sjögren et al.   TheScientificWorldJOURNAL

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

(2012) H Moniz et al.   Cell Death & Disease

The genetics of dyskeratosis congenita

(2012) Philip J. Mason et al.   Cancer Genetics

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum

(2011) Christian T. Thiel et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization

(2011) T. C. Pereboom et al.   BLOOD

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome

(2011) K. A. McGowan et al.   BLOOD

Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis

(2011) A. Narla et al.   BLOOD

A randomized phase 3 study of lenalidomide versus placebo in RBC transfusion-dependent patients with Low-/Intermediate-1-risk myelodysplastic syndromes with del5q

(2011) P. Fenaux et al.   BLOOD

Ribosomal protein gene deletions in Diamond-Blackfan anemia

(2011) J. E. Farrar et al.   BLOOD

Translational medicine: ribosomopathies

(2011) A. Narla et al.   BLOOD

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia

(2011) P. Jaako et al.   BLOOD

Defective ribosome assembly in Shwachman-Diamond syndrome

(2011) C. C. Wong et al.   BLOOD

Ribosome-Mediated Specificity in Hox mRNA Translation and Vertebrate Tissue Patterning

(2011) Nadya Kondrashov et al.   CELL

Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation

(2011) Alison M. Taylor et al.   EXPERIMENTAL HEMATOLOGY

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

Diamond Blackfan Anemia: Ribosomal Proteins Going Rogue

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

Molecular Dissection of the 5q Deletion in Myelodysplastic Syndrome

(2011) Benjamin L. Ebert   SEMINARS IN ONCOLOGY

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

Ribosomal dysfunction and inherited marrow failure

(2010) Karthik A. Ganapathi et al.   BRITISH JOURNAL OF HAEMATOLOGY

An ARF-Independent c-MYC-Activated Tumor Suppression Pathway Mediated by Ribosomal Protein-Mdm2 Interaction

(2010) Everardo Macias et al.   CANCER CELL

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

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

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

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

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

Cancer in dyskeratosis congenita

(2009) B. P. Alter et al.   BLOOD

Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing

(2009) Piya Rujkijyanont et al.   BRITISH JOURNAL OF HAEMATOLOGY

Dyskeratosis Congenita

(2009) Sharon A. Savage et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Diamond-Blackfan Anemia: Diagnosis, Treatment, and Molecular Pathogenesis

(2009) Jeffrey M. Lipton et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment

(2009) Lauri Burroughs et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Deletion 5q in myelodysplastic syndrome: a paradigm for the study of hemizygous deletions in cancer

(2009) B L Ebert   LEUKEMIA

The p53 Tumor Suppressor Causes Congenital Malformations in Rpl24-Deficient Mice and Promotes Their Survival

(2009) M. Barkic et al.   MOLECULAR AND CELLULAR BIOLOGY

An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA

(2009) Yoshiko Maida et al.   NATURE

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

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q– syndrome

(2009) Jillian L Barlow et al.   NATURE MEDICINE

Identification of miR-145 and miR-146a as mediators of the 5q– syndrome phenotype

(2009) Daniel T Starczynowski et al.   NATURE MEDICINE

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

(2009) Anirban Chakraborty et al.   PLoS One

SBDS Expression and Localization at the Mitotic Spindle in Human Myeloid Progenitors

(2009) Claudia Orelio 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

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

The Transcription Factor EGR1 Controls Both the Proliferation and Localization of Hematopoietic Stem Cells

(2008) Irene M. Min et al.   Cell Stem Cell

Gene therapy of Diamond Blackfan anemia CD34+ cells leads to improved erythroid development and engraftment following transplantation

(2008) Johan Flygare et al.   EXPERIMENTAL HEMATOLOGY

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

Treacher Collins syndrome: Unmasking the role of Tcof1/treacle

(2008) Daisuke Sakai et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Structural Consequences of Nucleophosmin Mutations in Acute Myeloid Leukemia

(2008) Charles G. Grummitt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pomalidomide and lenalidomide regulate erythropoiesis and fetal hemoglobin production in human CD34+ cells

(2008) Laure A. Moutouh-de Parseval et al.   JOURNAL OF CLINICAL INVESTIGATION

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

(2008) Karyn M. Austin et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

(2008) Natalie C Jones et al.   NATURE MEDICINE

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice

(2008) B.-W. Gu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations

(2008) A. W. MacInnes et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

(2008) T. Vulliamy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The role of human ribosomal proteins in the maturation of rRNA and ribosome production

(2008) S. Robledo et al.   RNA

A Heme Export Protein Is Required for Red Blood Cell Differentiation and Iron Homeostasis

(2008) S. B. Keel et al.   SCIENCE

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