Human Mpn1 promotes post-transcriptional processing and stability of U6atac

Incomplete splicing of neutrophil-specific genes affects neutrophil development in a zebrafish model of poikiloderma with neutropenia

(2015) Prakash Patil et al.   RNA Biology

The Mpn1 RNA exonuclease: Cellular functions and implication in disease

(2013) Vadim Shchepachev et al.   FEBS LETTERS

Nuclear RNA surveillance: role of TRAMP in controlling exosome specificity

(2013) Karyn Schmidt et al.   Wiley Interdisciplinary Reviews-RNA

Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA

(2013) Ihab Younis et al.   eLife

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

(2012) C. Hilcenko et al.   BLOOD

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

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

The significant other: splicing by the minor spliceosome

(2012) Janne J. Turunen et al.   Wiley Interdisciplinary Reviews-RNA

MVP and vaults: a role in the radiation response

(2011) Pedro C Lara et al.   Radiation Oncology

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

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

(2010) K. Schutz et al.   RNA

A scaling normalization method for differential expression analysis of RNA-seq data

(2010) Mark D Robinson et al.   GENOME BIOLOGY

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

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