| scholarly article | Q13442814 |
| P50 | author | Alan H. Beggs | Q37368773 |
| Joerg J Meerpohl | Q38323848 | ||
| Jan Zaucha | Q45997172 | ||
| Edyta Niewiadomska | Q55691934 | ||
| Wiktor Jedrzejczak | Q80204971 | ||
| Adrianna Vlachos | Q100473256 | ||
| Hanna T Gazda | Q115363596 | ||
| Colin A Sieff | Q115363600 | ||
| Roma Rokicka-Milewska | Q120745396 | ||
| P2093 | author name string | Charlotte M Niemeyer | |
| Jeffrey M Lipton | |||
| Rong Zhong | |||
| David G Nathan | |||
| Dagmar Pospisilova | |||
| David H Viskochil | |||
| Anna Ploszynska | |||
| Evangelia Atsidaftos | |||
| Lilia Long | |||
| P2860 | cites work | Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex | Q24291663 |
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| Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population | Q28139865 | ||
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| Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene | Q28204514 | ||
| Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease | Q28206337 | ||
| The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia | Q28297163 | ||
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| Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. | Q34333065 | ||
| Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity | Q34387746 | ||
| Williams syndrome and related disorders | Q34433419 | ||
| Introns are cis effectors of the nonsense-codon-mediated reduction in nuclear mRNA abundance | Q36666048 | ||
| Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transfer | Q40651706 | ||
| Ribosomal protein S19 expression during erythroid differentiation. | Q40695008 | ||
| Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia | Q40701142 | ||
| Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations | Q47880795 | ||
| Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome | Q52223418 | ||
| Ribosomal Protein S19 Gene Mutations in Patients with Diamond-Blackfan Anemia and Identification of Ribosomal Protein S19 Pseudogenes | Q58364353 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 105-113 | |
| P577 | publication date | 2004-10-01 | |
| P1433 | published in | British Journal of Haematology | Q4970200 |
| P1476 | title | RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations | |
| P478 | volume | 127 |
| Q33848953 | 5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability |
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| Q34282262 | A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia |
| Q24642192 | Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia |
| Q40448936 | 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. |
| Q38426153 | Analysis of the interactome of ribosomal protein S19 mutants |
| Q38517204 | Analysis of the ribosomal protein S19 interactome |
| Q35017968 | Animal models of Diamond Blackfan anemia |
| Q34874024 | Clinical utility gene card for: Diamond Blackfan anemia |
| Q37186060 | Clinical utility gene card for: Diamond-Blackfan anemia--update 2013. |
| Q51530791 | Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation. |
| Q81715648 | Dark skin mutations shed light on inherited anemia |
| Q36025647 | Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia |
| Q40020904 | Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells. |
| Q37125399 | Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference |
| Q34778028 | Diamond Blackfan anemia treatment: past, present, and future |
| Q37087644 | Diamond Blackfan anemia: a disorder of red blood cell development |
| Q38199150 | Diamond Blackfan anemia: a model for the translational approach to understanding human disease |
| Q35741406 | Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia. |
| Q33504868 | Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer |
| Q36016299 | Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia |
| Q37238278 | Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia. |
| Q34310852 | How I treat Diamond-Blackfan anemia |
| Q24304155 | Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits |
| Q33415672 | Inherited bone marrow failure syndromes in adolescents and young adults |
| Q92967065 | Interaction between the assembly of the ribosomal subunits: Disruption of 40S ribosomal assembly causes accumulation of extra-ribosomal 60S ribosomal protein uL18/L5 |
| Q24306589 | Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome |
| Q38047020 | Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia. |
| Q37794869 | Molecular pathogenesis in Diamond–Blackfan anemia |
| Q38641254 | Mouse Models of Rare Craniofacial Disorders. |
| Q34032196 | Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia |
| Q27690852 | PP2A: The Achilles Heal in MDS with 5q Deletion |
| Q40436169 | Pathogenesis of the erythroid failure in Diamond Blackfan anaemia |
| Q34501225 | Phylogeny, sequence conservation, and functional complementation of the SBDS protein family |
| Q37332578 | Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency. |
| Q24321535 | RPS19 mutations in patients with Diamond-Blackfan anemia |
| Q36581726 | Recent insights into the pathogenesis of Diamond-Blackfan anaemia |
| Q37083952 | Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. |
| Q24643416 | Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients |
| Q24337910 | Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia |
| Q35631339 | Ribosomal protein gene deletions in Diamond-Blackfan anemia. |
| Q33645930 | Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia |
| Q37679433 | Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia |
| Q26781845 | Ribosomopathies: how a common root can cause a tree of pathologies |
| Q34454066 | Ribosomopathies: mechanisms of disease |
| Q27930946 | Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis |
| Q34746794 | Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia. |
| Q36465627 | The ribosomal protein genes and Minute loci of Drosophila melanogaster |
| Q24322949 | The role of human ribosomal proteins in the maturation of rRNA and ribosome production |
| Q36516357 | The role of telomere biology in bone marrow failure and other disorders |
| Q36252762 | Tumor suppressor genetics |
| Q34807611 | Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. |
| Q93177516 | cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression |
| Q35099802 | p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5. |
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