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Article

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

Scientific reports - 2 Nov 2015

Colombo Elisa A, Carra Silvia, Fontana Laura, Bresciani Erica, Cotelli Franco, Larizza Lidia

Abstract excerpt

Poikiloderma with Neutropenia (PN) is an autosomal recessive genodermatosis characterized by early-onset poikiloderma, pachyonychia, hyperkeratosis, bone anomalies and neutropenia, predisposing to myelodysplasia. The causative C16orf57/USB1 gene encodes a conserved phosphodiesterase that regulates the stability of spliceosomal U6-RNA. The involvement of USB1 in splicing has not yet allowed to unveil the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26522474
DOI: 10.1038/srep15814
PMCID: PMC4629135

Genes

USB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.PMID 26522474Read ↗

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.Semantic proximity Read ↗

Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.Semantic proximity Read ↗

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

Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.Semantic proximity Read ↗

USB1 is a miRNA deadenylase that regulates hematopoietic development.Semantic proximity Read ↗

Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.Semantic proximity Read ↗

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.Semantic proximity Read ↗

Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.Semantic proximity Read ↗

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From clinical findings to the pathomechanism of poikiloderma with neutropenia.Semantic proximity Read ↗

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