ZSCAN9

Last update 08 May 2025

Basic Info

Synonyms

Cell proliferation-inducing gene 12 protein, PRD51, zinc finger and SCAN domain containing 9

+ [4]

Introduction

May be involved in transcriptional regulation.

100 Clinical Results associated with ZSCAN9

100 Translational Medicine associated with ZSCAN9

0 Patents (Medical) associated with ZSCAN9

Literatures (Medical) associated with ZSCAN9

01 Nov 2020·Blood Cells, Molecules, and DiseasesQ3 · MEDICINE

Chromosome 6p SNP microhaplotypes and IgG3 levels in hemochromatosis probands with HFE p.C282Y homozygosity

Q3 · MEDICINE

Article

Author: Graça Porto ; João T. Guimarães ; James C. Barton ; Maria José Teles ; J. Clayborn Barton ; Eugénia Cruz

Subnormal IgG1 or IgG3 levels occurred in 30% of hemochromatosis probands with HFE p.C282Y homozygosity and were concordant in HLA-identical siblings. We sought to identify factors associated with IgG subclasses in Alabama probands with p.C282Y homozygosity evaluated for 500 kb microhaplotypes AAT and GGG defined by SNPs in chromosome 6p genes PGBD1, ZNF193, and ZNF165. In regressions on IgG subclasses, we used: age; sex; GGG (dichotomous); iron removed to achieve depletion; CD8+ T-lymphocytes; and other IgG subclasses. Among 49 probands, AAT and GGG occurred in 95.9% and 16.3%, respectively. Thirteen probands (26.5%) had subnormal IgG1; 11 probands (22.4%) had subnormal IgG3. Mean IgG3 was higher in probands with than without GGG (75 mg/dL [95% confidence interval 63, 89] vs. 58 mg/dL [49, 71], respectively; p = 0.0321). Regression on IgG3 revealed: GGG positivity (p = 0.0106); and IgG1 (p = 0.0015). In a replication cohort of 22 Portugal probands with p.C282Y homozygosity, mean IgG3 was higher in probands with than without GGG (46 ± 16 vs. 31 ± 12 mg/dL, respectively; p = 0.0410). We conclude that mean IgG3 levels are higher in hemochromatosis probands with p.C282Y homozygosity with chromosome 6p microhaplotype GGG than in probands homozygous for microhaplotype AAT.

01 Aug 2018·Neurology Genetics

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

Article

Author: Niyazov, Dmitriy ; de Brouwer, Arjan P M ; Thompson, Kyle ; Walker, Sarah ; Taylor, Robert W ; Bruni, Francesco ; Caldecott, Keith W ; Zagnoli-Vieira, Guido ; He, Langping

ObjectiveTo address the relationship between mutations in the DNA strand break repair protein tyrosyl DNA phosphodiesterase 2 (TDP2) and spinocerebellar ataxia autosomal recessive 23 (SCAR23) and to characterize the cellular phenotype of primary fibroblasts from this disease.MethodsWe have used exome sequencing, Sanger sequencing, gene editing and cell biology, biochemistry, and subcellular mitochondrial analyses for this study.ResultsWe have identified a patient in the United States with SCAR23 harboring the same homozygous TDP2 mutation as previously reported in 3 Irish siblings (c.425+1G>A). The current and Irish patients share the same disease haplotype, but the current patient lacks a homozygous variant present in the Irish siblings in the closely linked gene ZNF193, eliminating this as a contributor to the disease. The current patient also displays symptoms consistent with mitochondrial dysfunction, although levels of mitochondrial function in patient primary skin fibroblasts are normal. However, we demonstrate an inability in patient primary fibroblasts to rapidly repair topoisomerase-induced DNA double-strand breaks (DSBs) in the nucleus and profound hypersensitivity to this type of DNA damage.ConclusionsThese data confirm the TDP2 mutation as causative for SCAR23 and highlight the link between defects in nuclear DNA DSB repair, developmental delay, epilepsy, and ataxia.

01 Oct 2014·Scandinavian Journal of Rheumatology

Identification of susceptibility genes for systemic lupus erythematosus with a genome-wide gene-based association study

Letter

Author: Deng, F-Y ; Lei, S-F

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease.A number of SLE-associated loci have been identified in genome-wide association studies (GWASs).Typically, these GWASs used a single nucleotide polymorphism (SNP) as the basic anal. unit and because of the large number of SNPs tested in GWAS, a stringent significant threshold (typically < 5.0 x 10^-8) was adopted to control for false pos. associationsBased on the publicly available SNP-based p-values from the database of Genotypes and Phenotypes (dbGaP; accession numbers: phs000122 and phs000202) (2, 6), we performed an initial gene-based GWAS in 1311 SLE cases and 3340 controls and a follow-up replication study in 767 SLE patients and 383 non-SLE patients.According to the significance level, we identified a total of 138 significant genes, with the most significant signal at human leukocyte antigen (HLA)-DQA1 (p = 2.71 x 10^-21).Therefore, the current gene-based study detected 89 addnl. novel SLE genes, which would usually be ignored in SNP-based association anal.We downloaded three publicly available expression datasets from GEO DataSets (www.ncbi.nlm.nih.gov/geo) (GSE20864, GSE37356) (10) and performed differential expression analyses by t-tests for the above-mentioned 138 significant genes in multiple SLE-related cells: peripheral blood cells (sample 1: S1), mononuclear cells (sample 2: S2), and macrophages (sample 3: S3).A total of 37 genes (e.g. RNF5, BLK) showed differential expression in at least one sample.Of note, three non-HLA SLE genes (NUSAP1, POTEC, and NSF) were differentially expressed in peripheral blood cells between SLE cases and controls.As shown in Table 1, the associations of 11 genes (ZNF193, ZNRD1, RNF5, LTA, PBX2, ZNF165, HIST1H3I, ZMYND8, RDBP, POU5F1, and ATF6B), notably including the non-HLA gene ZMYND8, are supported by both replication and expression studies.In summary, this gene-based association study identified 11 novel SLE-associated genes, and the findings are further supported by a replication study and differential expression studies.This study shows high power for gene-based association in detecting disease-susceptibility genes.

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ZSCAN9

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