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Article

The impact of SETBP1 mutations in neurological diseases and cancer.

Genes to cells : devoted to molecular & cellular mechanisms - 1 Sept 2023

Kohyanagi Naoki, Ohama Takashi

Abstract excerpt

SE translocation (SET) is a cancer-promoting factor whose expression is upregulated in many cancers. High SET expression positively correlates with a poor cancer prognosis. SETBP1 (SET-binding protein 1/SEB/MRD29), identified as SET-binding protein, is the causative gene of Schinzel-Giedion syndrome, which is characterized by severe intellectual disability and a distorted facial appearance. Mutations in these...

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Identifiers

PMID: 37489294
DOI: 10.1111/gtc.13057
PMCID: PMC11447826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

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The impact of SETBP1 mutations in neurological diseases and cancer.PMID 37489294Read ↗

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.Semantic proximity Read ↗

Further delineation of SET-related intellectual disability syndrome.Semantic proximity Read ↗

SETBP1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.Semantic proximity Read ↗

Somatic SETBP1 mutations in myeloid neoplasmsSemantic proximity Read ↗

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.Semantic proximity Read ↗

Clinical delineation of SETBP1 haploinsufficiency disorder.Semantic proximity Read ↗

Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.Semantic proximity Read ↗

SETBP1 is dispensable for normal and malignant hematopoiesis.Semantic proximity Read ↗

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