C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification
about
3' terminal diversity of MRP RNA and other human noncoding RNAs revealed by deep sequencing.The BioPlex Network: A Systematic Exploration of the Human InteractomeRibonuclease L and metal-ion-independent endoribonuclease cleavage sites in host and viral RNAs.The ribonucleotidyl transferase USIP-1 acts with SART3 to promote U6 snRNA recycling.Identification of novel transcriptional regulators of Zat12 using comprehensive yeast one-hybrid screens.A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.Lsm proteins and Hfq: Life at the 3' endH/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.The Mpn1 RNA exonuclease: cellular functions and implication in disease.U6 RNA biogenesis and disease association.A review of craniofacial disorders caused by spliceosomal defects.Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome.Cajal bodies and snRNPs - friends with benefits.Cleavage of 3'-terminal adenosine by archaeal ATP-dependent RNA ligase.Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.Human Mpn1 promotes post-transcriptional processing and stability of U6atac.Usb1 controls U6 snRNP assembly through evolutionarily divergent cyclic phosphodiesterase activitiesThe non-canonical poly(A) polymerase FAM46C acts as an onco-suppressor in multiple myeloma.RNA uridylation: a key posttranscriptional modification shaping the coding and noncoding transcriptome.Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia.Crystal structures of U6 snRNA-specific terminal uridylyltransferase.Clinical utility gene card for: poikiloderma with neutropeniaThe life of U6 small nuclear RNA, from cradle to grave.Variant snRNPs: New players within the spliceosome system.Genetics of Osteopetrosis.Defining essential elements and genetic interactions of the yeast Lsm2-8 ring and demonstration that essentiality of Lsm2-8 is bypassed via overexpression of U6 snRNA or the U6 snRNP subunit Prp24.Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.Architecture of the U6 snRNP reveals specific recognition of 3'-end processed U6 snRNA.
P2860
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P248
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P2860
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification
description
2012 nî lūn-bûn
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2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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name
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@ast
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@en
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@en-gb
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@nl
type
label
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@ast
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@en
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@en-gb
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@nl
prefLabel
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@ast
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@en
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@en-gb
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@nl
P2093
P2860
P50
P356
P1433
P1476
C16orf57, a gene mutated in po ...... e U6 snRNA 3' end modification
@en
P2093
Iwo Kuciński
Joanna Krwawicz
Michal Lazniewski
P2860
P304
P356
10.1101/GAD.193169.112
P407
P577
2012-09-01T00:00:00Z