The Mpn1 RNA exonuclease: Cellular functions and implication in disease

RNA decay machines: The exosome

(2013) Aleksander Chlebowski et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia

(2012) C. Hilcenko et al.   BLOOD

Squamous cell carcinoma in a child with Clericuzio-type poikiloderma with neutropenia

(2012) W. Rodgers et al.   BRITISH JOURNAL OF DERMATOLOGY

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

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

(2012) Vadim Shchepachev et al.   Cell Reports

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma

(2011) Juliette Piard et al.   European Journal of Medical Genetics

RNA polymerase III transcription control elements: Themes and variations

(2011) Andrea Orioli et al.   GENE

Poikiloderma with Neutropenia: Report of Three Cases Including One with Calcinosis Cutis

(2011) Rattanavalai Chantorn et al.   PEDIATRIC DERMATOLOGY

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

(2010) Carol Clericuzio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype

(2010) D. Concolino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The function of the NineTeen Complex (NTC) in regulating spliceosome conformations and fidelity during pre-mRNA splicing

(2010) Rebecca Hogg et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria

(2010) A.W. Arnold et al.   BRITISH JOURNAL OF DERMATOLOGY

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

Role of the snRNAs in spliceosomal active site

(2010) Saba Valadkhan   RNA Biology

Capture and sequence analysis of RNAs with terminal 2',3'-cyclic phosphates

(2010) K. Schutz et al.   RNA

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

TRF4 Is Involved in Polyadenylation of snRNAs in Drosophila melanogaster

(2008) R. Nakamura et al.   MOLECULAR AND CELLULAR BIOLOGY

3'-cyclic phosphorylation of U6 snRNA leads to recruitment of recycling factor p110 through LSm proteins

(2008) K. Licht et al.   RNA

High-Quality Binary Protein Interaction Map of the Yeast Interactome Network

(2008) H. Yu et al.   SCIENCE