| scholarly article | Q13442814 |
| P50 | author | Barbara Triggs-Raine | Q42533042 |
| P2093 | author name string | Joy Armistead | |
| P2860 | cites work | BMS1 is mutated in aplasia cutis congenita | Q21092409 |
| NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing | Q21144910 | ||
| A telomerase component is defective in the human disease dyskeratosis congenita | Q22010917 | ||
| The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase | Q24293676 | ||
| Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function | Q24297664 | ||
| The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor | Q24299223 | ||
| Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome | Q24301073 | ||
| The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA | Q24304508 | ||
| Identification of RPS14 as a 5q- syndrome gene by RNA interference screen | Q24306795 | ||
| Impaired ribosome biogenesis in Diamond-Blackfan anemia | Q24307762 | ||
| Glutamine methylation in histone H2A is an RNA-polymerase-I-dedicated modification | Q24314542 | ||
| Inhibition of c-Myc activity by ribosomal protein L11 | Q24315370 | ||
| X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions | Q24317067 | ||
| Ribosomal protein S27-like and S27 interplay with p53-MDM2 axis as a target, a substrate and a regulator | Q24318162 | ||
| Ribosomal protein S3: A multi-functional protein that interacts with both p53 and MDM2 through its KH domain | Q24321357 | ||
| Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome | Q24321611 | ||
| The role of human ribosomal proteins in the maturation of rRNA and ribosome production | Q24322949 | ||
| Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis | Q24338287 | ||
| Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator | Q24535876 | ||
| Evidence of p53-dependent cross-talk between ribosome biogenesis and the cell cycle: effects of nucleolar protein Bop1 on G(1)/S transition | Q24550946 | ||
| mTOR signaling regulates the processing of pre-rRNA in human cells | Q42562707 | ||
| Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. | Q42656543 | ||
| Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family | Q43692423 | ||
| Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification | Q44274699 | ||
| The mTOR signaling pathway mediates control of ribosomal protein mRNA translation in rat liver | Q45020034 | ||
| A zebrafish model for the Shwachman-Diamond syndrome (SDS). | Q45772334 | ||
| Preferential translation of internal ribosome entry site-containing mRNAs during the mitotic cycle in mammalian cells | Q46432262 | ||
| Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita. | Q46904259 | ||
| Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia | Q47074036 | ||
| Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse | Q50439600 | ||
| Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production. | Q50701618 | ||
| Polypyrimidine tract-binding protein regulates the cell cycle through IRES-dependent translation of CDK11(p58) in mouse embryonic stem cells. | Q51849116 | ||
| Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. | Q52166948 | ||
| The rise of a ribosomopathy and increased cancer risk | Q56981723 | ||
| Ribosome biogenesis and control of cell proliferation: p53 is not alone | Q56982006 | ||
| Nucleolar Disruption in Dopaminergic Neurons Leads to Oxidative Damage and Parkinsonism through Repression of Mammalian Target of Rapamycin Signaling | Q57073168 | ||
| Ribosomal dysfunction and inherited marrow failure | Q37138003 | ||
| The p53 tumor suppressor causes congenital malformations in Rpl24-deficient mice and promotes their survival. | Q37192095 | ||
| Emerging functions of ribosomal proteins in gene-specific transcription and translation | Q37359644 | ||
| Nucleotide modifications in three functionally important regions of the Saccharomyces cerevisiae ribosome affect translation accuracy | Q37477549 | ||
| Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects | Q37691461 | ||
| Systemic aplasia cutis congenita: A case report and review of the literature | Q37699588 | ||
| Ribosome biogenesis surveillance: probing the ribosomal protein-Mdm2-p53 pathway. | Q37760417 | ||
| Do ribosomopathies explain some cases of common variable immunodeficiency? | Q37808258 | ||
| The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum | Q37852210 | ||
| Specialization from synthesis: how ribosome diversity can customize protein function | Q38088898 | ||
| Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts | Q38330517 | ||
| Human rpL3 induces G₁/S arrest or apoptosis by modulating p21 (waf1/cip1) levels in a p53-independent manner | Q39223249 | ||
| Ribosomal protein S14 unties the MDM2-p53 loop upon ribosomal stress | Q39385222 | ||
| Defective ribosome assembly in Shwachman-Diamond syndrome | Q39497783 | ||
| Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction | Q39595474 | ||
| Defects in 18 S or 28 S rRNA processing activate the p53 pathway | Q39754650 | ||
| Down-regulation of pescadillo inhibits proliferation and tumorigenicity of breast cancer cells | Q39797805 | ||
| Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells. | Q40020904 | ||
| Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita | Q40280985 | ||
| Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. | Q40475890 | ||
| Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. | Q40750030 | ||
| Suppression of Myc oncogenic activity by ribosomal protein haploinsufficiency | Q40890351 | ||
| Rapamycin suppresses 5'TOP mRNA translation through inhibition of p70s6k. | Q41106936 | ||
| Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia | Q41296537 | ||
| Inhibition of HDM2 and activation of p53 by ribosomal protein L23 | Q24562880 | ||
| Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition | Q24562892 | ||
| A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis | Q24615964 | ||
| Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients | Q24643416 | ||
| Ribosomal Protein L11 Negatively Regulates Oncoprotein MDM2 and Mediates a p53-Dependent Ribosomal-Stress Checkpoint Pathway | Q24648370 | ||
| Mdm2 regulates p53 mRNA translation through inhibitory interactions with ribosomal protein L26 | Q24653892 | ||
| Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum | Q24677294 | ||
| Using ribosomal protein genes as reference: a tale of caution | Q27301621 | ||
| Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes | Q27329518 | ||
| Bms1p, a novel GTP-binding protein, and the related Tsr1p are required for distinct steps of 40S ribosome biogenesis in yeast | Q27931503 | ||
| The yeast nucleolar protein Nop4p contains four RNA recognition motifs necessary for ribosome biogenesis. | Q27933377 | ||
| The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase | Q27935785 | ||
| The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA. | Q27936240 | ||
| The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast | Q27936929 | ||
| Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis | Q27937066 | ||
| Temperature-sensitive mutations demonstrate roles for yeast fibrillarin in pre-rRNA processing, pre-rRNA methylation, and ribosome assembly | Q27938039 | ||
| Regulation of translation initiation in eukaryotes: mechanisms and biological targets | Q28111696 | ||
| Both endonucleolytic and exonucleolytic cleavage mediate ITS1 removal during human ribosomal RNA processing | Q28115038 | ||
| Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia | Q28201408 | ||
| RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms | Q28213604 | ||
| c-Myc binds to human ribosomal DNA and stimulates transcription of rRNA genes by RNA polymerase I | Q28236082 | ||
| The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation | Q28254083 | ||
| The post-transcriptional steps of eukaryotic ribosome biogenesis | Q28276470 | ||
| Inhibition of MDM2-mediated p53 ubiquitination and degradation by ribosomal protein L5 | Q28276949 | ||
| The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia | Q28297163 | ||
| Perturbation of rRNA synthesis in the bap28 mutation leads to apoptosis mediated by p53 in the zebrafish central nervous system | Q28312195 | ||
| Ablation of ribosomal protein L22 selectively impairs alphabeta T cell development by activation of a p53-dependent checkpoint | Q28504538 | ||
| Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing | Q28507063 | ||
| Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin | Q28511580 | ||
| Inactivation of S6 ribosomal protein gene in T lymphocytes activates a p53-dependent checkpoint response. | Q28513487 | ||
| Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning | Q28591034 | ||
| EMG1 is essential for mouse pre-implantation embryo development | Q28591801 | ||
| Ribosome assembly in eukaryotes | Q29615231 | ||
| Cap-independent polysomal association of natural mRNAs encoding c-myc, BiP, and eIF4G conferred by internal ribosome entry sites | Q31957370 | ||
| Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development | Q36144962 | ||
| Inactivation of ribosomal protein L22 promotes transformation by induction of the stemness factor, Lin28B. | Q36370851 | ||
| Ribosome biogenesis and cell growth: mTOR coordinates transcription by all three classes of nuclear RNA polymerases | Q36623674 | ||
| Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis | Q36719169 | ||
| A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice | Q36786840 | ||
| The translational landscape of mTOR signalling steers cancer initiation and metastasis | Q36873513 | ||
| Transcriptional regulation in eukaryotic ribosomal protein genes | Q36913949 | ||
| Feedback regulation of c-Myc by ribosomal protein L11 | Q37011222 | ||
| Re-programming of translation following cell stress allows IRES-mediated translation to predominate | Q37029410 | ||
| Myc and mTOR converge on a common node in protein synthesis control that confers synthetic lethality in Myc-driven cancers | Q37031640 | ||
| Ribosomal protein S14 negatively regulates c-Myc activity | Q37048407 | ||
| Characteristics and clustering of human ribosomal protein genes | Q33234925 | ||
| Dyskerin ablation in mouse liver inhibits rRNA processing and cell division | Q33558833 | ||
| A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome | Q33579912 | ||
| Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations | Q33632209 | ||
| Specialized ribosomes: a new frontier in gene regulation and organismal biology | Q33689623 | ||
| p53 upregulation is a frequent response to deficiency of cell-essential genes | Q33786749 | ||
| Deregulation of oncogene-induced senescence and p53 translational control in X-linked dyskeratosis congenita | Q33914354 | ||
| c-Myc protein synthesis is initiated from the internal ribosome entry segment during apoptosis. | Q33961819 | ||
| Mutations in SBDS are associated with Shwachman-Diamond syndrome | Q33963285 | ||
| Toward a structural understanding of IRES RNA function | Q34017026 | ||
| Eukaryotic 5S rRNA biogenesis | Q34028735 | ||
| The C-terminus of Utp4, mutated in childhood cirrhosis, is essential for ribosome biogenesis. | Q34058333 | ||
| North American Indian cirrhosis in children: a review of 30 cases | Q34068515 | ||
| Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases | Q34138388 | ||
| Fishing the molecular bases of Treacher Collins syndrome | Q34147496 | ||
| Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. | Q34153403 | ||
| Ribosome structure and activity are altered in cells lacking snoRNPs that form pseudouridines in the peptidyl transferase center | Q34181714 | ||
| Hypervariable ultra-long telomeres in mice | Q34195724 | ||
| Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells. | Q34220987 | ||
| When ribosomes go bad: diseases of ribosome biogenesis | Q34248659 | ||
| Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses | Q34275810 | ||
| Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia | Q34338736 | ||
| Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation | Q34344840 | ||
| Nonsense-mediated decay mutants do not affect programmed -1 frameshifting | Q34362790 | ||
| Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others | Q34732454 | ||
| Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. | Q34807611 | ||
| Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. | Q34978484 | ||
| Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome | Q34982627 | ||
| Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities | Q35011856 | ||
| p53-mediated biliary defects caused by knockdown of cirh1a, the zebrafish homolog of the gene responsible for North American Indian Childhood Cirrhosis | Q35023319 | ||
| Dyskerin is required for tumor cell growth through mechanisms that are independent of its role in telomerase and only partially related to its function in precursor rRNA processing | Q35053490 | ||
| rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells. | Q35569577 | ||
| Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia | Q36016299 | ||
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 1491-1500 | |
| P577 | publication date | 2014-03-19 | |
| P1433 | published in | FEBS Letters | Q1388051 |
| P1476 | title | Diverse diseases from a ubiquitous process: the ribosomopathy paradox | |
| P478 | volume | 588 |
| Q58595029 | , a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in |
| Q37029489 | Activation of GCN2 kinase by ribosome stalling links translation elongation with translation initiation |
| Q35180630 | An overview of pre-ribosomal RNA processing in eukaryotes |
| Q38747090 | Autoantigens as Partners in Initiation and Propagation of Autoimmune Rheumatic Diseases. |
| Q89273845 | CBFβ-SMMHC regulates ribosomal gene transcription and alters ribosome biogenesis |
| Q34462292 | Cellular differences in protein synthesis regulate tissue homeostasis |
| Q35843523 | Chemical modulators of ribosome biogenesis as biological probes |
| Q39317738 | Comparison of preribosomal RNA processing pathways in yeast, plant and human cells - focus on coordinated action of endo- and exoribonucleases. |
| Q99565707 | Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome |
| Q40689793 | Distinct 18S rRNA precursors are targets of the exosome complex, the exoribonuclease RRP6L2 and the terminal nucleotidyltransferase TRL in Arabidopsis thaliana |
| Q48249330 | EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome |
| Q42219422 | Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment |
| Q36175245 | Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis |
| Q36633632 | Functions of ribosomal proteins in assembly of eukaryotic ribosomes in vivo. |
| Q48102567 | GRWD1, a new player among oncogenesis-related ribosomal/nucleolar proteins. |
| Q39613444 | Genetically regulated hepatic transcripts and pathways orchestrate haematological, biochemical and body composition traits. |
| Q90391353 | Germline NPM1 mutations lead to altered rRNA 2'-O-methylation and cause dyskeratosis congenita |
| Q88527539 | HMGB proteins involved in TOR signaling as general regulators of cell growth by controlling ribosome biogenesis |
| Q36129962 | Haploinsufficiency for Core Exon Junction Complex Components Disrupts Embryonic Neurogenesis and Causes p53-Mediated Microcephaly |
| Q27930417 | Hrr25/CK1δ-directed release of Ltv1 from pre-40S ribosomes is necessary for ribosome assembly and cell growth |
| Q64259145 | Impaired ribosome biogenesis: mechanisms and relevance to cancer and aging |
| Q41489855 | Inhibition of post-transcriptional steps in ribosome biogenesis confers cytoprotection against chemotherapeutic agents in a p53-dependent manner. |
| Q34183329 | Nucleolar stress with and without p53. |
| Q38653083 | Osteosarcoma: Molecular Pathogenesis and iPSC Modeling |
| Q26772082 | Pathways to Specialized Ribosomes: The Brussels Lecture |
| Q39419851 | Placeholder factors in ribosome biogenesis: please, pave my way. |
| Q39071877 | Principles of 60S ribosomal subunit assembly emerging from recent studies in yeast. |
| Q46194651 | Proteotoxicity in cardiac amyloidosis: amyloidogenic light chains affect the levels of intracellular proteins in human heart cells |
| Q102075330 | RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis |
| Q50320048 | Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy. |
| Q47292208 | Reduced Expression of APUM24, Encoding a Novel rRNA Processing Factor, Induces Sugar-dependent Nucleolar Stress and Altered Sugar Responses in Arabidopsis thaliana. |
| Q35773255 | Reduced expression of the mouse ribosomal protein Rpl17 alters the diversity of mature ribosomes by enhancing production of shortened 5.8S rRNA. |
| Q89879105 | Ribosome and Translational Control in Stem Cells |
| Q36288352 | Ribosome biogenesis dysfunction leads to p53-mediated apoptosis and goblet cell differentiation of mouse intestinal stem/progenitor cells |
| Q27935236 | Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl transferase responsible for 18S rRNA hypermodification in yeast and humans |
| Q34457472 | Ribosomopathies and the paradox of cellular hypo- to hyperproliferation. |
| Q26781845 | Ribosomopathies: how a common root can cause a tree of pathologies |
| Q40078177 | Ribosomopathy-like properties of murine and human cancers |
| Q38429553 | Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements. |
| Q38433684 | Structural Heterogeneity in Pre-40S Ribosomes. |
| Q38843526 | The Contributions of the Ribosome Biogenesis Protein Utp5/WDR43 to Craniofacial Development |
| Q35856958 | The Ribosome Biogenesis Protein Nol9 Is Essential for Definitive Hematopoiesis and Pancreas Morphogenesis in Zebrafish |
| Q36879227 | The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome. |
| Q42371018 | The ubiquitin hybrid gene UBA52 regulates ubiquitination of ribosome and sustains embryonic development |
| Q37237973 | Translation regulation by ribosomes: Increased complexity and expanded scope |
| Q49906097 | mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease |
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