Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia
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Title
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia
Authors
Keywords
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Journal
BLOOD
Volume 121, Issue 6, Pages 1028-1038
Publisher
American Society of Hematology
Online
2012-11-29
DOI
10.1182/blood-2012-10-461491
References
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Related references
Note: Only part of the references are listed.- C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification
- (2012) S. Mroczek et al. GENES & DEVELOPMENT
- Transcriptome-wide Analysis of Exosome Targets
- (2012) Claudia Schneider et al. MOLECULAR CELL
- How an exonuclease decides where to stop in trimming of nucleic acids: crystal structures of RNase T–product complexes
- (2012) Yu-Yuan Hsiao et al. NUCLEIC ACIDS RESEARCH
- Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
- (2012) Elisa A Colombo et al. Orphanet Journal of Rare Diseases
- Mpn1, Mutated in Poikiloderma with Neutropenia Protein 1, Is a Conserved 3′-to-5′ RNA Exonuclease Processing U6 Small Nuclear RNA
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- Presenting your structures: theCCP4mgmolecular-graphics software
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- Frequent pathway mutations of splicing machinery in myelodysplasia
- (2011) Kenichi Yoshida et al. NATURE
- SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts
- (2011) E. Papaemmanuil et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
- (2010) Amanda J. Walne et al. HUMAN MOLECULAR GENETICS
- Dali server: conservation mapping in 3D
- (2010) Liisa Holm et al. NUCLEIC ACIDS RESEARCH
- Capture and sequence analysis of RNAs with terminal 2',3'-cyclic phosphates
- (2010) K. Schutz et al. RNA
- Spliceosome Structure and Function
- (2010) C. L. Will et al. Cold Spring Harbor Perspectives in Biology
- Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene
- (2009) Ludovica Volpi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Jalview Version 2--a multiple sequence alignment editor and analysis workbench
- (2009) A. M. Waterhouse et al. BIOINFORMATICS
- The Many Pathways of RNA Degradation
- (2009) Jonathan Houseley et al. CELL
- The Spliceosome: Design Principles of a Dynamic RNP Machine
- (2009) Markus C. Wahl et al. CELL
- Characterization of a heat-stable enzyme possessing GTP-dependent RNA ligase activity from a hyperthermophilic archaeon, Pyrococcus furiosus
- (2009) A. Kanai et al. RNA
- 3'-cyclic phosphorylation of U6 snRNA leads to recruitment of recycling factor p110 through LSm proteins
- (2008) K. Licht et al. RNA
- AKAP18 Contains a Phosphoesterase Domain that Binds AMP
- (2007) Matthew G. Gold et al. JOURNAL OF MOLECULAR BIOLOGY
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