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
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.
Kotmayer L et al.
Blood Cancer Journal, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.
Medeiros JJF et al.
Bioinformatics (oxford, England), 2022
Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis.
Mori N et al.
Journal of Genetics, 2022
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
Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.
Massoth LR et al.
The Oncologist, 2021
Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.
Lee Y et al.
Cancer Research and Treatment, 2021
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
Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.
Fang Y et al.
Frontiers in Oncology, 2020
Analysis of gene mutation characteristics in patients with chronic neutrophilic leukaemia.
Yin B et al.
Hematology (amsterdam, Netherlands), 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
Liu WL et al.
Journal of Genetics, 2018
Chronic neutrophilic leukemia: new science and new diagnostic criteria.
Szuber N et al.
Blood Cancer Journal, 2018
Implementation and utilization of the molecular tumor board to guide precision medicine.
Harada S et al.
Oncotarget, 2017
SETBP1 dysregulation in congenital disorders and myeloid neoplasms.
Coccaro N et al.
Oncotarget, 2017
Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.
Kim T et al.
Leukemia Research, 2017
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R et al.
Plos Genetics, 2017
[The clinical characteristics, gene mutations and prognosis of chronic neutrophilic leukemia].
Cui YJ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2017
Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A et al.
European Journal of Medical Genetics, 2015
ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia.
Elliott MA et al.
American Journal of Hematology, 2015
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
Carvalho E et al.
American Journal of Medical Genetics. Part A, 2015
Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia.
Stieglitz E et al.
Blood, 2015
CALR mutation studies in chronic neutrophilic leukemia.
Lasho TL et al.
American Journal of Hematology, 2014
CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia.
Pardanani A et al.
Leukemia, 2013
SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.
Meggendorfer M et al.
Leukemia, 2013
SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias.
Damm F et al.
Leukemia, 2013
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Hoischen A et al.
Nature Genetics, 2010