Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants

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

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo et al. · The American Journal of Human Genetics · 2009 · 146 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

Amanda J. Walne, Tom Vulliamy, Richard Beswick et al. · Human Molecular Genetics · 2010 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>C16orf57</i>, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3′ end modification

Seweryn Mroczek, Joanna Krwawicz, Jan Kutner et al. · Genes & Development · 2012 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Christine Hilcenko, Paul J. Simpson, Andrew J. Finch et al. · Blood · 2012 · 76 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Mpn1, Mutated in Poikiloderma with Neutropenia Protein 1, Is a Conserved 3′-to-5′ RNA Exonuclease Processing U6 Small Nuclear RNA

Vadim Shchepachev, Harry Wischnewski, Edoardo Missiaglia et al. · Cell Reports · 2012 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17