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Article

Mutations of the SLX4 gene in Fanconi anemia.

Nature genetics - 1 Feb 2011

Kim Yonghwan, Lach Francis P, Desetty Rohini, Hanenberg Helmut, Auerbach Arleen D, Smogorzewska Agata

Abstract excerpt

Fanconi anemia is a rare recessive disorder characterized by genome instability, congenital malformations, progressive bone marrow failure and predisposition to hematologic malignancies and solid tumors. At the cellular level, hypersensitivity to DNA interstrand crosslinks is the defining feature in Fanconi anemia. Mutations in thirteen distinct Fanconi anemia genes have been shown to interfere with 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: 21240275
DOI: 10.1038/ng.750
PMCID: PMC3345287

Genes

SLX4

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Mutations of the SLX4 gene in Fanconi anemia.PMID 21240275Read ↗

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Nuclease delivery: versatile functions of SLX4/FANCP in genome maintenance.Semantic proximity Read ↗

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4Semantic proximity Read ↗

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Assessment of SLX4 Mutations in Hereditary Breast Cancers.Semantic proximity Read ↗

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.Semantic proximity Read ↗

The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA.Semantic proximity Read ↗

The molecular and cellular biology of Fanconi anemia.Semantic proximity Read ↗

SLFN11 promotes stalled fork degradation that underlies the phenotype in Fanconi anemia cells.Semantic proximity Read ↗

The FANC/BRCA Pathway Releases Replication Blockades by Eliminating DNA Interstrand Cross-LinksSemantic proximity Read ↗

Clinical severity in Fanconi anemia correlates with residual function of FANCB missense variantsSemantic proximity Read ↗

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