| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/HUMU.20117 |
| P698 | PubMed publication ID | 15523650 |
| P50 | author | Andrew Chatr-Aryamontri | Q30303518 |
| P2093 | author name string | Gil Tchernia | |
| Emanuela Garelli | |||
| Fabrizio Loreni | |||
| Irma Dianzani | |||
| Ugo Ramenghi | |||
| Mara Angelini | |||
| P2860 | cites work | Ribosomal protein S19 expression during erythroid differentiation. | Q40695008 |
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| Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration | Q41024155 | ||
| Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. | Q50616106 | ||
| Mutant transcripts of the LDL receptor gene: mRNA structure and quantity | Q58143918 | ||
| Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs | Q61040791 | ||
| The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons | Q78410743 | ||
| Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex | Q24291663 | ||
| Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20 | Q24291673 | ||
| Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology | Q24294692 | ||
| The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions | Q24595096 | ||
| beta 0 thalassemia, a nonsense mutation in man | Q24596641 | ||
| Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway | Q24791079 | ||
| Nerve growth factor selectively regulates expression of transcripts encoding ribosomal proteins | Q24804853 | ||
| Exosome-mediated recognition and degradation of mRNAs lacking a termination codon | Q27939297 | ||
| The human intronless melanocortin 4-receptor gene is NMD insensitive | Q28217154 | ||
| The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia | Q28297163 | ||
| Coordinate regulation of ribosomal protein mRNA level in regenerating rat liver. Study with the corresponding mouse cloned cDNAs | Q28584212 | ||
| A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance | Q29615731 | ||
| Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion | Q29616531 | ||
| Initiation of translation in prokaryotes and eukaryotes | Q29618237 | ||
| Nonsense-mediated mRNA decay in health and disease | Q29619553 | ||
| When the message goes awry: disease-producing mutations that influence mRNA content and performance. | Q30329218 | ||
| Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells | Q33886134 | ||
| Nonsense-mediated decay of human HEXA mRNA. | Q33969215 | ||
| Interference of nonsense mutations with eukaryotic messenger RNA stability | Q34037213 | ||
| An mRNA surveillance mechanism that eliminates transcripts lacking termination codons | Q34120142 | ||
| Non-stop decay--a new mRNA surveillance pathway | Q34147640 | ||
| Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms | Q34234444 | ||
| Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay | Q34363476 | ||
| Killing the messenger: new insights into nonsense-mediated mRNA decay | Q34487265 | ||
| Nuclear mRNA surveillance | Q35145841 | ||
| Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability | Q36929147 | ||
| Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes | Q37217869 | ||
| Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome | Q38317023 | ||
| P433 | issue | 6 | |
| P304 | page(s) | 526-533 | |
| P577 | publication date | 2004-12-01 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia | |
| P478 | volume | 24 |
| Q34202281 | A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility. |
| Q64993869 | A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. |
| Q42099157 | A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease |
| Q34282262 | A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia |
| Q38426153 | Analysis of the interactome of ribosomal protein S19 mutants |
| Q38517204 | Analysis of the ribosomal protein S19 interactome |
| Q40020904 | Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells. |
| Q36802258 | Degradation of mRNAs that lack a stop codon: a decade of nonstop progress |
| Q33708563 | Deletion and point mutations of PTHLH cause brachydactyly type E. |
| Q37039276 | Diverse aberrancies target yeast mRNAs to cytoplasmic mRNA surveillance pathways |
| Q54642509 | Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? |
| Q33504868 | Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer |
| Q33850392 | Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2. |
| Q35927816 | Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene |
| Q24306589 | Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome |
| Q38019770 | Multifunctional glycoprotein DEFB126--a curious story of defensin-clad spermatozoa |
| Q24321535 | RPS19 mutations in patients with Diamond-Blackfan anemia |
| Q37083952 | Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. |
| Q35631339 | Ribosomal protein gene deletions in Diamond-Blackfan anemia. |
| Q36929128 | The Hbs1-Dom34 protein complex functions in non-stop mRNA decay in mammalian cells |
| Q35781669 | Translation of nonSTOP mRNA is repressed post-initiation in mammalian cells |
| Q34807611 | Untangling the phenotypic heterogeneity of Diamond Blackfan anemia. |
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