Diamond Blackfan Anemia

Diamond Blackfan Anemia: Ribosomal Proteins Going Rogue

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

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

Spontaneous abrogation of the G2 DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients

(2010) Raphael Ceccaldi et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

Ribosome biogenesis surveillance: probing the ribosomal protein-Mdm2-p53 pathway

(2010) C Deisenroth et al.   ONCOGENE

Alternative pre-mRNA splicing switches modulate gene expression in late erythropoiesis

(2009) M. L. Yamamoto et al.   BLOOD

Pathogenesis of the erythroid failure in Diamond Blackfan anaemia

(2009) Colin A. Sieff et al.   BRITISH JOURNAL OF HAEMATOLOGY

Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome

(2009) J. B. Moore et al.   HAEMATOLOGICA

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

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

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 post-transcriptional steps of eukaryotic ribosome biogenesis

(2008) A. K. Henras et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Many ribosomal protein mutations are associated with growth impairment and tumor predisposition in zebrafish

(2008) Kevin Lai et al.   DEVELOPMENTAL DYNAMICS

Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis

(2008) M. A. Rey et al.   HAEMATOLOGICA

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