Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
about
Exonuclease hDIS3L2 specifies an exosome-independent 3'-5' degradation pathway of human cytoplasmic mRNAMammalian DIS3L2 exoribonuclease targets the uridylated precursors of let-7 miRNAsSurprises in the 3'-end: 'U' can decide too!Threading the barrel of the RNA exosomeEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseHuman Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsDifferential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestationsMicroRNA biogenesis pathways in cancerOvergrowth Syndromes.Structural analysis of Dis3l2, an exosome-independent exonuclease from Schizosaccharomyces pombeGradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNAA role for the Perlman syndrome exonuclease Dis3l2 in the Lin28-let-7 pathwayMechanism of Dis3l2 substrate recognition in the Lin28-let-7 pathwayBroad and adaptable RNA structure recognition by the human interferon-induced tetratricopeptide repeat protein IFIT5A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.The tumour suppressor DLC2 ensures mitotic fidelity by coordinating spindle positioning and cell-cell adhesionTesticular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.Mechanisms of genome instability induced by RNA-processing defects.Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumourComparison of the yeast and human nuclear exosome complexes.A noncoding RNA produced by arthropod-borne flaviviruses inhibits the cellular exoribonuclease XRN1 and alters host mRNA stabilityThe ribonuclease Dis3 is an essential regulator of the developmental transcriptome.The Mtr4 ratchet helix and arch domain both function to promote RNA unwindingGenotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.Modulating the RNA processing and decay by the exosome: altering Rrp44/Dis3 activity and end-productThe yin and yang of kidney development and Wilms' tumorsGenome-Wide Chromatin Landscape Transitions Identify Novel Pathways in Early Commitment to Osteoblast Differentiation.Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors.Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.Genetic variation frequencies in Wilms' tumor: A meta-analysis and systematic reviewDis3l2-Mediated Decay Is a Quality Control Pathway for Noncoding RNAsSpatial control of translation repression and polarized growth by conserved NDR kinase Orb6 and RNA-binding protein Sts5Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.TUT-DIS3L2 is a mammalian surveillance pathway for aberrant structured non-coding RNAsMolecular basis for cytoplasmic RNA surveillance by uridylation-triggered decay in Drosophila.Perlman syndrome nuclease DIS3L2 controls cytoplasmic non-coding RNAs and provides surveillance pathway for maturing snRNAsMultiple myeloma-associated hDIS3 mutations cause perturbations in cellular RNA metabolism and suggest hDIS3 PIN domain as a potential drug target.A novel role for the 3'-5' exoribonuclease Dis3L2 in controlling cell proliferation and tissue growth.A common class of transcripts with 5'-intron depletion, distinct early coding sequence features, and N1-methyladenosine modification.Lin28a uses distinct mechanisms of binding to RNA and affects miRNA levels positively and negatively.
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P2860
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility
description
2012 nî lūn-bûn
@nan
2012 թուականի Մարտին հրատարակուած գիտական յօդուած
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2012 թվականի մարտին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@ast
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@en
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@en-gb
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@nl
type
label
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@ast
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@en
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@en-gb
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@nl
prefLabel
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@ast
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@en
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@en-gb
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@nl
P2093
P2860
P3181
P356
P1433
P1476
Germline mutations in DIS3L2 c ...... and Wilms tumor susceptibility
@en
P2093
Anthonie J van Essen
Christopher J Ricketts
Dean Gentle
Dewi Astuti
Farida Latif
Ferenc Müller
Ger J M Pruijn
Giovanni Neri
Graham A Fews
Harmeet Gill
P2860
P2888
P304
P3181
P356
10.1038/NG.1071
P407
P577
2012-02-05T00:00:00Z
P5875
P6179
1010819067