Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression
about
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunitsImpaired ribosome biogenesis in Diamond-Blackfan anemiaThe role of human ribosomal proteins in the maturation of rRNA and ribosome productionFunctional second genes generated by retrotransposition of the X-linked ribosomal protein genes.Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemiaRibosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patientsThe human ribosomal protein genes: sequencing and comparative analysis of 73 genesRibosomopathies: how a common root can cause a tree of pathologiesThe inherited bone marrow failure syndromesMolecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19The ribosomal basis of Diamond-Blackfan Anemia: mutation and database updateRibosomal protein gene knockdown causes developmental defects in zebrafish.Targeted resequencing and analysis of the Diamond-Blackfan anemia disease locus RPS19.Diamond-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.Mutations in the ribosomal protein genes in Japanese patients with 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.Tempo and mode of gene duplication in mammalian ribosomal protein evolution.Mouse nuclear myosin I knock-out shows interchangeability and redundancy of myosin isoforms in the cell nucleusUntangling the phenotypic heterogeneity of Diamond Blackfan anemia.The many facets of H/ACA ribonucleoproteinsRibosomal protein gene deletions in Diamond-Blackfan anemia.Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaDefective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.Eri1 regulates microRNA homeostasis and mouse lymphocyte development and antiviral functionHaploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated MicrocephalyDegradation of mRNAs that lack a stop codon: a decade of nonstop progressDiamond-Blackfan anemia, ribosome and erythropoiesis.Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation.A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemiasLentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray.The Stomatological Complications of Diamond-Blackfan Anemia: A Case Report.Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemiaOral and dental manifestations of diamond-blackfan anemia: case reports.Modeling Myeloid Malignancies Using Zebrafish.
P2860
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P2860
Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Mutations in ribosomal protein ...... tions in phenotypic expression
@ast
Mutations in ribosomal protein ...... tions in phenotypic expression
@en
Mutations in ribosomal protein ...... tions in phenotypic expression
@nl
type
label
Mutations in ribosomal protein ...... tions in phenotypic expression
@ast
Mutations in ribosomal protein ...... tions in phenotypic expression
@en
Mutations in ribosomal protein ...... tions in phenotypic expression
@nl
prefLabel
Mutations in ribosomal protein ...... tions in phenotypic expression
@ast
Mutations in ribosomal protein ...... tions in phenotypic expression
@en
Mutations in ribosomal protein ...... tions in phenotypic expression
@nl
P2093
P1433
P1476
Mutations in ribosomal protein ...... tions in phenotypic expression
@en
P2093
C Bouchier
C Niemeyer
G Tchernia
I Dianzani
J L Pérignon
L Cicchiello
P304
P407
P577
1999-12-01T00:00:00Z