Ribosomopathies: How a common root can cause a tree of pathologies

DMM Disease Models and Mechanisms

Volumn 8, Issue 9, 2015, Pages 1013-1026

  Danilova, Nadia ^a   Gazda, Hanna T ^b,c,d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

Diamond Blackfan anemia; Np63; P53; Ribosomal protein; Ribosome biogenesis; Ribosomopathy;

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MYC PROTEIN; PROTEIN P21; PROTEIN P53; REACTIVE OXYGEN METABOLITE; TRANSCRIPTION FACTOR GATA 1; RIBOSOME PROTEIN; RIBOSOME RNA;

APOPTOSIS; ATAXIA TELANGIECTASIA; AUTOPHAGY; BIOGENESIS; BLACKFAN DIAMOND ANEMIA; CELL ACTIVITY; CELL COUNT; CELL CYCLE ARREST; CELL CYCLE PROGRESSION; CELL DAMAGE; CELL PROLIFERATION; CELL STRESS; CONGENITAL MALFORMATION; DYSKERATOSIS CONGENITA; ERYTHROCYTE COUNT; ERYTHROID CELL; ERYTHROPOIESIS; GENE EXPRESSION; GENETIC TRANSCRIPTION; GLYCOLYSIS; HAPLOINSUFFICIENCY; HUMAN; INDIAN CHILDHOOD CIRRHOSIS; INNATE IMMUNITY; MANDIBULOFACIAL DYSOSTOSIS; NONHUMAN; NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; RIBOSOME; RIBOSOMOPATHY; SHWACHMAN SYNDROME; SIGNAL TRANSDUCTION; TISSUE SPECIFICITY; ANIMAL; BLOOD; CELL CYCLE; DISEASE MODEL; ERYTHROCYTE; GENETICS; HEMATOPOIESIS; METABOLISM; MUTATION; NEOPLASM; PATHOLOGY; PATHOPHYSIOLOGY; ULTRASTRUCTURE;

ANEMIA, DIAMOND-BLACKFAN; ANIMALS; CELL CYCLE; CELL PROLIFERATION; DISEASE MODELS, ANIMAL; ERYTHROCYTES; ERYTHROPOIESIS; HEMATOPOIESIS; HUMANS; IMMUNITY, INNATE; MUTATION; NEOPLASMS; PHENOTYPE; RIBOSOMAL PROTEINS; RIBOSOMES; RNA, RIBOSOMAL; TUMOR SUPPRESSOR PROTEIN P53;

EID: 84941549664     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.020529     Document Type: Review

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