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Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.

http://www.wikidata.org/entity/Q37125399

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Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 The role of the ribosome in the regulation of longevity and lifespan extension Ribosomopathies: Global process, tissue specific defects Progress towards mechanism-based treatment for Diamond-Blackfan anemia From stem cell to red cell: regulation of erythropoiesis at multiple levels by multiple proteins, RNAs, and chromatin modifications Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop a Defect in Erythropoiesis Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting Evolutionary signatures amongst disease genes permit novel methods for gene prioritization and construction of informative gene-based networks Minor antigens on transfused RBCs crossprime CD8 T cells but do not induce full effector function Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism The genomics of inherited bone marrow failure: from mechanism to the clinic.Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium Internati Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.Genomic characterization of the inherited bone marrow failure syndromes.Inherited bone marrow failure syndromes in adolescents and young adults.Neonatal manifestations of inherited bone marrow failure syndromes.Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia Diamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders.Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis When ribosomes go bad: diseases of ribosome biogenesis.Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.How I treat Diamond-Blackfan anemia.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Marrow failure: a window into ribosome biology Ribosomopathies: mechanisms of disease.Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.HIF1alpha synergizes with glucocorticoids to promote BFU-E progenitor self-renewal.Diamond Blackfan anemia treatment: past, present, and future.

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Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.

http://www.wikidata.org/entity/Q37125399

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scientific article published on 30 July 2008

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vetenskaplig artikel

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Diagnosing and treating Diamon ...... clinical consensus conference.

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Diagnosing and treating Diamon ...... clinical consensus conference.

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Diagnosing and treating Diamon ...... clinical consensus conference.

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Diagnosing and treating Diamon ...... clinical consensus conference.

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Diagnosing and treating Diamon ...... clinical consensus conference.

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Diagnosing and treating Diamon ...... clinical consensus conference.

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British Journal of Haematology

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Diagnosing and treating Diamon ...... clinical consensus conference.

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Akiko Shimamura

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P2860

Bisphosphonate therapy for children and adolescents with secondary osteoporosis

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries

Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene

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