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

Poikiloderma with neutropenia: Genotype-ethnic origin correlation, expanding phenotype and literature review

(2014) Asuman Koparir et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation

(2013) Maria-Cristina Keightley et al.   FEBS LETTERS

The Mpn1 RNA exonuclease: Cellular functions and implication in disease

(2013) Vadim Shchepachev et al.   FEBS LETTERS

Poikiloderma With Neutropenia

(2013) Piero Farruggia et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Efficient genome editing in zebrafish using a CRISPR-Cas system

(2013) Woong Y Hwang et al.   NATURE BIOTECHNOLOGY

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

Incomplete splicing, cell division defects, and hematopoietic blockage in dhx8 mutant zebrafish

(2012) Milton A. English et al.   DEVELOPMENTAL DYNAMICS

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

Des mutations du gène C16orf57 sont impliquées dans le syndrome poïkilodermie – neutropénie et dans une variété particulière de dyskératose congénitale à télomères normaux

(2011) O. Dereure   ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE

Rbfox-regulated alternative splicing is critical for zebrafish cardiac and skeletal muscle functions

(2011) Thomas L. Gallagher et al.   DEVELOPMENTAL BIOLOGY

Zebrafish as a model for normal and malignant hematopoiesis

(2011) L. Jing et al.   Disease Models & Mechanisms

RNA-Seq analysis in mutant zebrafish reveals role of U1C protein in alternative splicing regulation

(2011) Tanja Dorothe Rösel et al.   EMBO JOURNAL

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

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

(2011) Rattanavalai Chantorn et al.   PEDIATRIC DERMATOLOGY

Hematopoietic stem cells, hematopoiesis and disease: lessons from the zebrafish model

(2011) Corey S Martin et al.   Genome Medicine

Zebrafish usp39 Mutation Leads to rb1 mRNA Splicing Defect and Pituitary Lineage Expansion

(2011) Yesenia Ríos et al.   PLoS Genetics

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

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

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

Zebrafish as a model for vertebrate hematopoiesis

(2010) Felix Ellett et al.   CURRENT OPINION IN PHARMACOLOGY

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†

(2010) Bastian Linder et al.   HUMAN MOLECULAR GENETICS

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

A sensitive non-radioactive northern blot method to detect small RNAs

(2010) Sang Woo Kim et al.   NUCLEIC ACIDS RESEARCH

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

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

Alternative pre-mRNA splicing switches modulate gene expression in late erythropoiesis

(2009) M. L. Yamamoto et al.   BLOOD

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

(2008) Rahima Mostefai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Zebrafish in hematology: sushi or science?

(2008) D. Carradice et al.   BLOOD

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia

(2008) Tamayo Uechi et al.   HUMAN MOLECULAR GENETICS