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Article

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

British journal of haematology - 1 Nov 2015

Negri Gloria, Crescenzi Barbara, Colombo Elisa Adele, Fontana Laura, Barba Gianluca, Arcioni Francesco, Gervasini Cristina, Mecucci Cristina, Larizza Lidia

Abstract excerpt

Germline mutations of the U6 biogenesis 1 (USB1) gene underlie Poikiloderma with Neutropenia (PN), a rare autosomal recessive genodermatosis conferring an increased risk of myelodysplasia. Recent evidence highlights a key role of USB1 protein in the splicing process, but nothing is known about USB1 alterations in acquired myelodysplastic syndromes, even though mutations in the spliceosome machinery represent an...

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Identifiers

PMID: 26306619
DOI: 10.1111/bjh.13651

Genes

USB1

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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.

Related research

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Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.PMID 26306619Read ↗

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 ↗

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

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

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

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

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

U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing.Semantic proximity Read ↗

Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia.Semantic proximity Read ↗

Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1.Semantic proximity Read ↗

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

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromesSemantic proximity Read ↗

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