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A Filipino Child with Schinzel-Giedion Syndrome

Acta medica Philippina, 2023-04, Vol.57 (4)

2023

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Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis

Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.107-107, Article 107

2023

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Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder

Molecular autism, 2023-02, Vol.14 (1), p.8-8, Article 8

2023

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The Role of SETBP1 in Gastric Cancer: Friend or Foe

Frontiers in oncology, 2022-07, Vol.12, p.908943-908943

2022

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Protein Phosphatase 2A as a Therapeutic Target in Acute Myeloid Leukemia

Frontiers in oncology, 2016-04, Vol.6, p.78-78

2016

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Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development

Frontiers in neuroscience, 2022-05, Vol.16, p.813430-813430

2022

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SETBP1 mutation determines sensitivity to immune checkpoint inhibitors in melanoma and NSCLC

Aging (Albany, NY.), 2023-08, Vol.15 (15), p.7476-7495

2023

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Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

American journal of human genetics, 2017-11, Vol.101 (5), p.789-802

2017

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Molecular Pathogenesis of BCR-ABL-Negative Atypical Chronic Myeloid Leukemia

Frontiers in oncology, 2021-11, Vol.11, p.756348-756348

2021

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MicroRNA-211-5p suppresses tumour cell proliferation, invasion, migration and metastasis in triple-negative breast cancer by directly targeting SETBP1

British journal of cancer, 2017-06, Vol.117 (1), p.78-88

2017

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The protein level of the tumour-promoting factor SET is regulated by cell density

Journal of biochemistry (Tokyo), 2022-03, Vol.171 (3), p.295-303

2022

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A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome

American journal of medical genetics. Part A, 2020-08, Vol.182 (8), p.1947-1951

2020

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The impact of SETBP1 mutations in neurological diseases and cancer

Genes to cells : devoted to molecular & cellular mechanisms, 2023-09, Vol.28 (9), p.629-641

2023

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Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation

Neuropsychologia, 2019-07, Vol.130, p.44-51

2019

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Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1

Frontiers in neuroscience, 2022-09, Vol.16, p.980000-980000

2022

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SETBP1 dysregulation in congenital disorders and myeloid neoplasms

Oncotarget, 2017-08, Vol.8 (31), p.51920-51935

2017

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Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome

Frontiers in pediatrics, 2022-09, Vol.10, p.920741-920741

2022

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Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development

Molecular syndromology, 2024-03, Vol.15 (2), p.167-174

2024

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Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"

Frontiers in neurology, 2020-12, Vol.11, p.593446-593446

2020

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TRIM29 regulates the SETBP1/SET/PP2A axis via transcription factor VEZF1 to promote progression of ovarian cancer

Cancer letters, 2022-03, Vol.529, p.85-99

2022

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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

Leukemia, 2013-09, Vol.27 (9), p.1852-1860

2013

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GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies

Haematologica (Roma), 2015-10, Vol.100 (10), p.e398-e401

2015

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Chronic Neutrophilic Leukemia: Current and Future Perspectives

Clinical lymphoma, myeloma and leukemia, 2019-03, Vol.19 (3), p.129-134

2019

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Downregulation of SETBP1 promoted non-small cell lung cancer progression by inducing cellular EMT and disordered immune status

American journal of translational research, 2020-01, Vol.12 (2), p.447-462

2020

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SETBP1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome

Pathology, research and practice, 2018-05, Vol.214 (5), p.706-712

2018

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A Filipino Child with Schinzel-Giedion Syndrome

Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis

Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder

The Role of SETBP1 in Gastric Cancer: Friend or Foe

Protein Phosphatase 2A as a Therapeutic Target in Acute Myeloid Leukemia

Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development

SETBP1 mutation determines sensitivity to immune checkpoint inhibitors in melanoma and NSCLC

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Molecular Pathogenesis of BCR-ABL-Negative Atypical Chronic Myeloid Leukemia

MicroRNA-211-5p suppresses tumour cell proliferation, invasion, migration and metastasis in triple-negative breast cancer by directly targeting SETBP1

The protein level of the tumour-promoting factor SET is regulated by cell density

A pathogenic variant in the SETBP1 hotspot results in a forme‐fruste Schinzel–Giedion syndrome

The impact of SETBP1 mutations in neurological diseases and cancer

Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation

Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1

SETBP1 dysregulation in congenital disorders and myeloid neoplasms

Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome

Delayed Bone Age in a Child with a Novel Loss-of-Function Variant in SETBP1 Gene Sheds Light on the Potential Role of SETBP1 Protein in Skeletal Development

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy"

TRIM29 regulates the SETBP1/SET/PP2A axis via transcription factor VEZF1 to promote progression of ovarian cancer

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

GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies

Chronic Neutrophilic Leukemia: Current and Future Perspectives

Downregulation of SETBP1 promoted non-small cell lung cancer progression by inducing cellular EMT and disordered immune status

SETBP1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome

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