Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
about
The role of human ribosomal proteins in the maturation of rRNA and ribosome productionEctopic mineralization in the middle ear and chronic otitis media with effusion caused by RPL38 deficiency in the Tail-short (Ts) mouse.Ribosomal 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 phenotypesRole of ribosomal protein mutations in tumor development (Review)The ribosomal basis of Diamond-Blackfan Anemia: mutation and database updateEukaryotic translation initiation factor 6 is a novel regulator of reactive oxygen species-dependent megakaryocyte maturationExtremophilic 50S Ribosomal RNA-Binding Protein L35Ae as a Basis for Engineering of an Alternative Protein ScaffoldRibosomal protein L17, RpL17, is an inhibitor of vascular smooth muscle growth and carotid intima formationDerivative of Extremophilic 50S Ribosomal Protein L35Ae as an Alternative Protein ScaffoldLoss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.The genomics of inherited bone marrow failure: from mechanism to the clinic.Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.Loss of ribosomal protein L11 affects zebrafish embryonic development through a p53-dependent apoptotic response.Ribosomal protein L27a is required for growth and patterning in Arabidopsis thaliana.Genomic 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.rRNA maturation in yeast cells depleted of large ribosomal subunit proteinsDistinct 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.Ribosomopathies: 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.Advances in iron chelation: an update.The cancerous translation apparatusSystematic transcriptome analysis of the zebrafish model of diamond-blackfan anemia induced by RPS24 deficiency.
P2860
Q24322949-476D21A8-3755-4B8F-B70D-0F7CC29C16A1Q24634244-1D1F8FB6-5CF6-4476-837A-47ADBD8C65F5Q24643416-987964C6-1421-44FF-ACAD-7A773658E522Q26781845-C0240619-EC8E-4CC6-B95E-04FAA16C45E4Q26823710-8190F0F4-655E-4ECE-83AE-FB1DD367F9F4Q26991754-FDFF2128-9C0F-4DC8-9260-203B7B52E0F1Q27022918-66F81A1E-6C8C-4117-B884-4DE56DF59B66Q27329518-5CB623E2-E6D7-44BF-A3DA-048FAEF3E5F3Q28068265-50F216C1-12FF-4AEE-AFEC-DC943F211AA7Q28296164-813C8BCE-6BBB-42DC-9856-A88C33FE7BB3Q28506261-A39378BB-E59A-45BD-8721-D903FCC384A4Q28547051-6DAC51F7-5BC9-48BA-B4FA-2211F88F8BD9Q28573822-4830C0A7-0C2D-4D16-AF60-7197B3DF039EQ28818769-7313B2C0-AC7B-4C33-B593-45F042F85466Q29871483-B7FD7728-947F-4CB6-BFF9-025B7F64C2CDQ30235895-2AA9BDA9-35E9-4BBA-B0D5-92DC49F2FC0CQ30503129-E96A7CB9-1BB3-4973-9E36-E3960BF53B02Q30856892-B5FC8C28-EE56-4F62-A6D9-172540B2EA75Q33350425-1768FDFB-7137-4FD4-8E7D-804CD2F8F2C7Q33411559-DF235389-9A9E-4807-9D8D-580FD027C624Q33480010-4511955C-AF84-4D0E-B1B4-8765CEDB8784Q33504868-EA27969E-94D2-4E53-AE5C-1435AFC6DE0EQ33518507-682A8755-7174-4F19-90BC-3DC41DE39F93Q33587612-696EBE0D-8616-4C63-B655-362E526E8937Q33632209-12F4FB05-592C-4AE4-9E6C-3B8592194E5FQ33645930-AE1AB49D-53ED-404C-AC04-921B755386CCQ33727053-B59E5C72-E4A4-4D92-937F-B8525985D267Q33806050-6E75FD6B-2A39-48B5-8F22-9E3CA1551FC4Q33886441-67EB2A1A-F953-44FE-9ACE-78B064AB23B8Q33916824-DF738609-006F-4B56-AE60-5F7DAA86153FQ33916840-1F7A2B31-C67A-46CF-B5AD-B90279D5A10FQ34007866-66CF2203-16E4-4224-9C42-D73D9333B5CEQ34032196-88B3C416-8744-4245-9C72-379E32EDB95FQ34038183-75C7A793-AF69-49BE-9580-CC281111A4BBQ34109809-596E9A90-F6C9-4177-B407-170224128CF2Q34110999-7242794D-BB69-44FF-87EF-D0C09480F676Q34161561-BC7E6AE8-183D-4B24-8AD9-726545CFEE59Q34174307-3BC20F3E-1689-414B-9C1D-CF40078B13F4Q34182649-B65E94E2-136D-4CA3-A350-FE27FB0E6F6DQ34217647-1B639B25-5ADA-4978-B578-68AF2CE2A035
P2860
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@ast
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@en
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@nl
type
label
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@ast
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@en
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@nl
prefLabel
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@ast
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@en
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@nl
P2093
P2860
P50
P3181
P1433
P1476
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia
@en
P2093
Adrianna Vlachos
Agnieszka Grabowska
C Conover Talbot
Clifford M Takemoto
Colin A Sieff
Diane Esposito
Emi Caywood
Eva Atsidaftos
Hal E Schneider
Hanna T Gazda
P2860
P304
P3181
P356
10.1182/BLOOD-2008-02-140012
P407
P577
2008-09-01T00:00:00Z