A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor

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

(2015) Prakash Patil et al.   RNA Biology

FAS/FASL are dysregulated in chordoma and their loss-of-function impairs zebrafish notochord formation

(2015) Luca Ferrari et al.   Oncotarget

Oceans of opportunity: Exploring vertebrate hematopoiesis in zebrafish

(2014) Kelli J. Carroll et al.   EXPERIMENTAL HEMATOLOGY

Poikiloderma with neutropenia: beginning at the end

(2013) P. J. Mason et al.   BLOOD

Poikiloderma With Neutropenia

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

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts

(2013) A Pistocchi et al.   Cell Death & Disease

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

(2012) C. Hilcenko et al.   BLOOD

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

(2012) H. Makishima et al.   BLOOD

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

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

Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development

(2012) E. Provost et al.   DEVELOPMENT

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

Dissection of the role of Pinin in the development of zebrafish posterior pharyngeal cartilages

(2012) Shu-Yuan Hsu et al.   HISTOCHEMISTRY AND CELL BIOLOGY

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

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

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

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

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

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

A Central Role for Decorin during Vertebrate Convergent Extension

(2009) Jason J. Zoeller et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Retinoic acid and Cyp26b1 are critical regulators of osteogenesis in the axial skeleton

(2008) K. M. Spoorendonk et al.   DEVELOPMENT