Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome

Özel, Fatih; Direk, Neşe; Kulali, Melike Ataseven; Bozkaya, Özlem Giray; Ada, Emel; Alptekın, Köksal

doi:10.1097/ypg.0000000000000214

Cited by 2 publications

(3 citation statements)

References 10 publications

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“…As an important cytoskeleton protein, a body of evidences has shown that PCNT was linked to the regulation of the cell cycle in cancers or non-neoplastic diseases [ 11 , 37 , 38 ]. Steinfeldt and colleagues reported that alternative splicing of PCNT helps to control the cardiomyocyte cell cycle arrest of newborns [ 39 ].…”

Section: Discussionmentioning

confidence: 99%

“…Steinfeldt and colleagues reported that alternative splicing of PCNT helps to control the cardiomyocyte cell cycle arrest of newborns [ 39 ]. The PCNT mutations cause cell cycle and division abnormalities, thereby leading to microcephalic osteodysplastic primordial dwarfism type II syndrome, an autosomal recessive disease [ 38 ]. Our KEGG and GSEA analysis elucidated that PCNT was remarkably involved in cell cycle signaling.…”

Section: Discussionmentioning

confidence: 99%

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PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest

Wang

Yang

Luo

et al. 2023

Aging

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Pericentrin (PCNT), a core pericentriolar material protein during mitosis, is involved in tumorigenesis and development in various cancers. However, its role in hepatocellular carcinoma (HCC) remains unclear. Based on public databases and a cohort with 174 HCC patients, we found that PCNT mRNA and protein expression were elevated in HCC tissues and correlated with unfavorable clinicopathological characteristics and prognosis. In vitro experiments demonstrated that knockdown PCNT expression inhibited the cell viability, migration, and invasion capacity of HCC cells. Multivariate regression analysis suggested that a high PCNT level was an independent risk factor for poor prognosis. In addition, mutation analysis suggested that PCNT was positively correlated to TMB and MSI but negatively correlated to tumor purity. Moreover, PCNT was significantly negatively correlated with ESTIMATE, immune, and Stromal scores in HCC patients. The PCNT expression level was correlated with immune cell infiltration and immune checkpoint-related gene expression in the tumor microenvironment. The single-cell sequencing analysis suggested that higher PCNT expression level was detected in the malignant cells and immune cells (dendritic cells, monocytes, and macrophages cells) in HCC tissues. Enrichment analysis and functional experiments revealed PCNT promoted tumor progression by inhibiting cell cycle arrest. In conclusion, our studies suggested that PCNT can be a potential prognostic indicator correlated with tumor immune microenvironment, suggesting that PCNT can serve as a novel therapeutic target for HCC.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest

Wang

Yang

Luo

et al. 2023

Aging

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show abstract

“…15 Insulin resistance and diabetes have also been recently described. 10 Congenital heart defect, 16 schizophrenia, 17 and ocular manifestations 18 are novel findings in the features of MOPDII.…”

Section: Discussionmentioning

confidence: 99%

Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

et al. 2020

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Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a genetic syndrome. Its main characteristics are bony dysplasia, prenatal and postnatal growth deficiencies, microcephaly, and cerebrovascular disease. Several other features have been added recently. We report an individual with MOPDII affected by congenital renal dysplasia and hyperosmolar coma diabetic onset. Renal dysplasia has not been previously described in individuals with MOPDII. By publishing cases of unusual genetic disorders, it will be possible to broaden the spectrum of these rare syndromes, and improve the diagnosis and management of comorbidities.

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Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome

Cited by 2 publications

References 10 publications

PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest

PCNT is a prognostic biomarker correlated with tumor immune microenvironment in hepatocellular carcinoma and promotes tumor progression by inhibiting cell cycle arrest

Renal Dysplasia and Precocious Diabetes Onset in Microcephalic Osteodysplastic Primordial Dwarfism Type II Syndrome: A Case Report

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