Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
about
The role of human ribosomal proteins in the maturation of rRNA and ribosome productionAbnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemiaRibosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patientsRibosomopathies: how a common root can cause a tree of pathologiesProgress towards mechanism-based treatment for Diamond-Blackfan anemiaEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseGuarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathwayMutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypesMolecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19The solution structure of ribosomal protein S17E from Methanobacterium thermoautotrophicum: A structural homolog of the FF domainStructural Consequences of Nucleophosmin Mutations in Acute Myeloid LeukemiaComprehensive Molecular Structure of the Eukaryotic RibosomeGradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNAPredicting the potential ankylosing spondylitis-related genes utilizing bioinformatics approachesThe ribosomal basis of Diamond-Blackfan Anemia: mutation and database updateLoss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.Loss of ribosomal protein L11 affects zebrafish embryonic development through a p53-dependent apoptotic response.The ribosomal protein Rpl22 controls ribosome composition by directly repressing expression of its own paralog, Rpl22l1Genomic characterization of the 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.Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndromeDiamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutationsRibosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.RPL41, a small ribosomal peptide deregulated in tumors, is essential for mitosis and centrosome integrity.Normalization of red cell enolase level following allogeneic bone marrow transplantation in a child with Diamond-Blackfan anemiaRibosomopathies: human disorders of ribosome dysfunction.Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemiaDiamond Blackfan anemia 2008-2009: broadening the scope of ribosome biogenesis disorders.Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.The role of nuclear bodies in gene expression and disease.Drosophila ribosomal protein mutants control tissue growth non-autonomously via effects on the prothoracic gland and ecdysoneFunctional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.Ribosome defects in disorders of erythropoiesis.The cancerous translation apparatusSystematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency.When ribosomes go bad: diseases of ribosome biogenesis.A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.
P2860
Q24322949-E5FACE60-5041-42C6-8C2C-2CD76685E0C1Q24642192-28C62412-C4B9-433C-9707-9CCE31E785A3Q24643416-88261493-2856-443D-BEF4-CC9355CAAA31Q26781845-55F28A6C-FB52-4217-B31C-E4E9C5A800BAQ26823710-7111D71E-378B-4D09-AD83-6CB6EF8B021DQ26991754-78B3180D-F1CB-4B6D-89A8-888A288F1357Q27022918-F059091A-3406-4A58-9100-FBEFF4FAA314Q27329518-15A1AE14-9619-44FC-A55C-3CF14B7109E3Q27647600-DF884F27-AD1C-45BA-8636-C622C6D916B6Q27649706-4EA7708B-F8A1-4789-94EC-9DD31A629C2BQ27650716-AA76B10B-A047-4589-8C57-3D24E10D460CQ27658581-3AF7D073-33B5-426A-98C9-906FEDECE25CQ28114779-F2CA10BE-7052-4180-AC26-F359471CD3D1Q28252332-26AD1897-7735-4A5C-BEA9-801B12D7373AQ28296164-848E50B5-988E-4A63-AA3C-47C9C501C76AQ29871483-CF0B5D55-49C0-48E7-BC0F-B28CC711439BQ30856892-D70EF8CC-2B04-4485-AA90-D1BB357576BDQ31129965-07D5D635-BB6A-4475-A089-80AB666DA51EQ33411559-679AF031-EFF4-4FD8-8AC9-463F90204177Q33480010-2545DB3F-44A5-49BC-B63B-F243877A2913Q33504868-F0511668-9634-469A-8D47-442A50333DFFQ33587612-5E298B6A-C51F-44DF-91B4-04EDB8214DE2Q33632209-C58B92C7-F95A-446C-88AC-55EEF7D9ED21Q33645930-51F7AE78-BC3E-4095-B022-324692A64108Q33727053-8086ACE7-190A-4DA7-974C-BAAC361EAEBBQ33749804-C3C48B05-5914-461E-9CE4-15A2DBB4136DQ33806050-47AF4273-7A34-4878-97BD-012BACE2CC91Q33886441-51E98406-77F5-459B-8F52-EB6071158C96Q33916824-C901A210-B353-4B5E-9F7D-53432D4F3156Q33916840-5CF6A35C-1604-4D0D-BE0B-BBC08B627289Q34007866-7E696678-B0DD-434D-B6A4-839E7492819AQ34032196-7F0B14E1-AAFC-4D30-912E-BEF28AAA7609Q34038183-3B70757A-D7AE-46B3-A48E-E94EC2B2183CQ34109809-CDF230D1-B139-4699-8E26-3B2DBD38A1C6Q34110999-1EE11DEE-2BAC-44F0-9649-C0DF49338E5EQ34161561-910D9C6F-DDBE-402D-AAE6-C35F6978DB4BQ34182649-B0A329B9-FC13-4132-9A7E-F2554FB2ADB6Q34217647-2DF3B75D-E236-4A01-99A1-97397D4119F4Q34248659-A57AB43F-4BFA-460A-8A10-5DC3073DD551Q34282262-D64977F7-45AE-4F9F-A858-B9BE131CCA19
P2860
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
description
2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@ast
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@en
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@en-gb
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@nl
type
label
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@ast
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@en
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@en-gb
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@nl
prefLabel
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@ast
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@en
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@en-gb
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@nl
P2093
P356
P1433
P1476
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia
@en
P2093
Dagmar Pospisilova
Helena Handrkova
Jana Cmejlova
Radek Cmejla
P304
P356
10.1002/HUMU.20608
P407
P50
P577
2007-12-01T00:00:00Z