* Estos artículos científicos sobre la ADB fueron escritos por autores fuera de los CDC y están listados por fecha de publicación (en inglés).
Gene Reviews; June 2009 Clinton C, Gazda HT
This web site from the National Institutes of Health provides a clinical overview of Diamond Blackfan Anemia and includes information on the following topics: disease characteristics and clinical description, clinical diagnosis, molecular genetic testing, testing strategies, differential diagnosis, disease management, prevention of secondary complications, surveillance, genetic counseling, prenatal testing, and molecular genetics.
Cell Biology: Arrest by Ribosome
Nature; May 2009; 459(7243):46-7 Ferreira-Cerca S, Hurt E.
Impaired assembly of cells' protein-synthesis factories, the ribosomes, can cause cell-cycle arrest and disease. This finding emphasizes the close link between cell proliferation and ribosome formation.
A New Database for Ribosomal Protein Genes Which are Mutated in Diamond-Blackfan Anemia
Human Mutation; November 2008; 29(11):E263-70 Boria I, et al.
Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported in DBA. DBA is the prototype of ribosomapathies: a protein synthesis defect in a tissue with a high cellular turnover is considered the cause of the erythroid progenitor failure. We have created the Diamond-Blackfan Anemia mutation database to curate and record DBA gene mutations, together with their functional consequences and clinical phenotypes.
Diagnosing and Treating Diamond Blackfan Anaemia: Results of an International Clinical Consensus Conference
British Journal of Hematology; July 2008; 142:6; 859 – 876 Vlachos A, et al.
This article is the result of an international clinical consensus conference on diagnosing and treating DBA. Topics presented in this review article include the following: (1) review of diagnostic criteria, (2) evaluation of current treatment options such as corticosteroid and transfusion therapies and stem cell transplantation, and (3) a proposition for optimizing patient care. Also presented are a review of congenital anomalies, genetics and reproductive choices, cancer predisposition in patients with DBA, and management of pregnancy. The recommendations in this review article are the result of discussions at the Sixth Annual Diamond Blackfan Anemia International Consensus Conference sponsored by the Daniella Maria Arturi Foundation.
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Deficiency of Ribosomal Protein S19 During Early Embryogenesis Leads to Reduction of Erythrocytes in a Zebrafish Model of Diamond-Blackfan Anemia
Human Molecular Genetics; 2008; 17:20; 3204 -11 Kenmochi N, et al.
Heterozygous mutations in RPS19 have been identified in 25% of patients with DBA, but the relationship between RPS19 mutations and the pure red-cell aplasia of DBA is unclear. In this study, we developed an RPS19-deficient zebrafish by knocking down rps19 using a Morpholino antisense oligo. The RPS19-deficient animals showed a dramatic decrease in blood cells as well as deformities in the head and tail regions at early developmental stages. The RPS19-deficient zebrafish will provide a valuable tool for investigating the molecular mechanisms of DBA development in humans.
Loss of P53 Synthesis in Zebrafish Tumors with Ribosomal Protein Gene Mutations
Proceedings of the National Academy of Sciences of the United States of America; 2008; 105:3; 10408 -13 MacInnes AW, et al.
Zebrafish carrying heterozygous mutations for 17 different ribosomal protein (rp) genes are prone to developing malignant peripheral nerve sheath tumors (MPNSTs), a tumor type that is seldom seen in laboratory strains of zebrafish. Interestingly, the same rare tumor type arises in zebrafish that are homozygous for a loss-of-function point mutation in the tumor suppressor gene p53. For these reasons, and because p53 is widely known to be mutated in the majority of human cancers, we investigated the status of p53 in the rp(+/-) MPNSTs. Our results show that the appropriate amount of numerous ribosomal proteins is required for p53 protein production in vivo and that disruption of this regulation most likely contributes to tumorigenesis.
Ribosomal Mutations Cause P53-Mediated Dark Skin and Pleiotropic Effects
Nature Genetics; 2008; 40:8; 963 -70
McGowan KA, et al.
Mutations in genes encoding ribosomal proteins cause the Minute phenotype in Drosophila and mice, and DBA in humans. Here we report two mouse dark skin (Dsk) loci caused by mutations in Rps19 (ribosomal protein S19) and Rps20 (ribosomal protein S20). We identify a common pathophysiologic program in which p53 stabilization stimulates Kit ligand expression, and, consequently, epidermal melanocytosis via a paracrine mechanism. Accumulation of p53 also causes reduced body size and erythrocyte count. Our results provide a mechanistic explanation for the diverse collection of phenotypes that accompany reduced dosage of genes encoding ribosomal proteins, and have implications for understanding normal human variation and human disease.
Recent Insights into the Pathogenesis of Diamond-Blackfan Anaemia
British Journal of Haematology; October 2006; 135(2):149-57 Gazda HT, Sieff CA
DBA is inherited in about 10-20% of cases, and genetic studies have identified mutations in a ribosomal protein gene, RPS19, in 25% of cases; there is evidence for involvement of at least two other genes. In yeast, RPS19 deletion leads to a block in ribosomal RNA biogenesis. The critical question is how mutations in RPS19 lead to the failure of proliferation and differentiation of erythroid progenitors. While this question has not yet been answered, understanding the biology of DBA may provide insight not only into the defect in erythropoisis, but also into the other developmental abnormalities that are present in about 40% of patients, and into the cancer predisposition that is inherent to DBA.
The Gene Encoding Ribosomal Protein S19 is Mutated in Diamond-Blackfan Anaemia
Nature Genetics; February 1999; 21(2):169-75 Draptchinskaia N, et al.
DBA, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.
Diamond-Blackfan Anemia: A Congenital Defect in Erythropoiesis
Haematologica; Nov-Dec 1996; 81(6):560-72 Dianzani I, Garelli E, Ramenghi U
This article provides a detailed overview DBA, including inheritance, clinical findings, dysmorphic features, differential diagnosis, biological studies, molecular findings, and treatment.
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