Associated Papers
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.
Wong MMK et al.
Nature Communications, 2025
Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.
Antonyan L et al.
Human Molecular Genetics, 2025
Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter and de novo SETBP1 mutation.
Beaman GM et al.
Frontiers in Pediatrics, 2025
Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
Zheng J et al.
Bmc Pediatrics, 2024
The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2023
Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel-Giedion syndrome.
Yang H et al.
Frontiers in Pediatrics, 2022
Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1.
Liu L et al.
Frontiers in Neuroscience, 2022
36161179 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_S5
Mutant SETBP1 enhances NRAS-driven MAPK pathway activation to promote aggressive leukemia.
Carratt SA et al.
Leukemia, 2021
A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
Sullivan JA et al.
American Journal of Medical Genetics. Part A, 2020
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP et al.
Italian Journal of Pediatrics, 2020
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
Liu WL et al.
Journal of Genetics, 2018
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R et al.
Plos Genetics, 2017
28346496 (PubMed )
Supplement: pgen.1006683.s003.pdf
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A et al.
European Journal of Medical Genetics, 2015
ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients.
Patnaik MM et al.
Leukemia, 2014
Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
Fernandez-Mercado M et al.
British Journal of Haematology, 2013
SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias.
Damm F et al.
Leukemia, 2013
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