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84 results

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POGZ suppresses 2C transcriptional program and retrotransposable elements.
Sun X, Zhang T, Tong B, Cheng L, Jiang W, Sun Y. Sun X, et al. Cell Rep. 2023 Aug 29;42(8):112867. doi: 10.1016/j.celrep.2023.112867. Epub 2023 Jul 25. Cell Rep. 2023. PMID: 37494184 Free article.
Activation of POGZ-bound ERVs is associated with up-regulation of nearby neural disease genes such as Serpina3m. Our findings provide important insights into understanding the disease mechanism caused by POGZ dysfunction....
Activation of POGZ-bound ERVs is associated with up-regulation of nearby neural disease genes such as Serpina3m. Our findings provide …
POGZ promotes homology-directed DNA repair in an HP1-dependent manner.
Heath J, Cheyou ES, Findlay S, Luo VM, Carpio EP, Lee J, Djerir B, Chen X, Morin T, Lebeau B, Karam M, Bagci H, Grapton D, Ursini-Siegel J, Côté JF, Witcher M, Richard S, Maréchal A, Orthwein A. Heath J, et al. EMBO Rep. 2022 Jan 5;23(1):e51041. doi: 10.15252/embr.202051041. Epub 2021 Nov 10. EMBO Rep. 2022. PMID: 34758190 Free PMC article.
In vivo CRISPR inactivation of Pogz is embryonically lethal. Pogz haploinsufficiency (Pogz(+) /delta) results in developmental delay, impaired intellectual abilities, hyperactive behaviour and a compromised humoral immune response in mice, recapitulating the …
In vivo CRISPR inactivation of Pogz is embryonically lethal. Pogz haploinsufficiency (Pogz(+) /delta) results in develo …
POGZ-related epilepsy: Case report and review of the literature.
Ferretti A, Barresi S, Trivisano M, Ciolfi A, Dentici ML, Radio FC, Vigevano F, Tartaglia M, Specchio N. Ferretti A, et al. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28. Am J Med Genet A. 2019. PMID: 31136090 Review.
POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been recently associated with a syndromic neurodevelopmental disorder, known as White-Sutton syndrome (# 616364). ...Few data, however, are available …
POGZ (# 614787) encodes a multidomain nuclear protein involved in transcriptional regulation and its defective function has been rece …
POGZ de novo missense variants in neuropsychiatric disorders.
Zhao W, Quan Y, Wu H, Han L, Bai T, Ma L, Li B, Xun G, Ou J, Zhao J, Hu Z, Guo H, Xia K. Zhao W, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e900. doi: 10.1002/mgg3.900. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347273 Free PMC article.
Immunoblot analysis was performed to examine the expression of POGZ in patient-derived peripheral blood lymphocytes. Published POGZ de novo missense variants in neuropsychiatric disorders were reviewed. ...CONCLUSION: Our findings will be beneficial to the functiona …
Immunoblot analysis was performed to examine the expression of POGZ in patient-derived peripheral blood lymphocytes. Published POG …
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Nagy D, et al. Genes (Basel). 2022 Jan 15;13(1):154. doi: 10.3390/genes13010154. Genes (Basel). 2022. PMID: 35052493 Free PMC article.
Disease severity varies widely among POGZ patients and studies investigating genotype-phenotype association are scarce. ...Overall, 117 POGZ patients' genotype and phenotype data were included in the analysis, including 12 novel patients. ...
Disease severity varies widely among POGZ patients and studies investigating genotype-phenotype association are scarce. ...Overall, 1 …
Autism-associated protein POGZ controls ESCs and ESC neural induction by association with esBAF.
Sun X, Cheng L, Sun Y. Sun X, et al. Mol Autism. 2022 Jun 1;13(1):24. doi: 10.1186/s13229-022-00502-9. Mol Autism. 2022. PMID: 35650610 Free PMC article.
We performed biochemistry, ChIP-seq, ATAC-seq, and bioinformatics analyses to understand the role of POGZ. RESULTS: We show that POGZ is required for the maintenance of ESC identity and the up-regulation of neural genes during ESC differentiation toward a neural fat …
We performed biochemistry, ChIP-seq, ATAC-seq, and bioinformatics analyses to understand the role of POGZ. RESULTS: We show that P …
Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice.
Suliman-Lavie R, Title B, Cohen Y, Hamada N, Tal M, Tal N, Monderer-Rothkoff G, Gudmundsdottir B, Gudmundsson KO, Keller JR, Huang GJ, Nagata KI, Yarom Y, Shifman S. Suliman-Lavie R, et al. Nat Commun. 2020 Nov 17;11(1):5836. doi: 10.1038/s41467-020-19577-0. Nat Commun. 2020. PMID: 33203851 Free PMC article.
Here, we generate a brain specific conditional knockout mouse model deficient for Pogz, an ASD risk gene. We demonstrate that Pogz deficient mice show microcephaly, growth impairment, increased sociability, learning and motor deficits, mimicking several of the human …
Here, we generate a brain specific conditional knockout mouse model deficient for Pogz, an ASD risk gene. We demonstrate that Pogz …
Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.
Markenscoff-Papadimitriou E, Binyameen F, Whalen S, Price J, Lim K, Ypsilanti AR, Catta-Preta R, Pai EL, Mu X, Xu D, Pollard KS, Nord AS, State MW, Rubenstein JL. Markenscoff-Papadimitriou E, et al. Cell Rep. 2021 Dec 7;37(10):110089. doi: 10.1016/j.celrep.2021.110089. Cell Rep. 2021. PMID: 34879283 Free PMC article.
Although it is a high-confidence ASD risk gene, the neurodevelopmental functions of POGZ remain unclear. Here we reveal the genomic binding of POGZ in the developing forebrain at euchromatic loci and gene regulatory elements (REs). We profile chromatin accessibility …
Although it is a high-confidence ASD risk gene, the neurodevelopmental functions of POGZ remain unclear. Here we reveal the genomic b …
Loss of POGZ alters neural differentiation of human embryonic stem cells.
Deng L, Mojica-Perez SP, Azaria RD, Schultz M, Parent JM, Niu W. Deng L, et al. Mol Cell Neurosci. 2022 May;120:103727. doi: 10.1016/j.mcn.2022.103727. Epub 2022 Mar 31. Mol Cell Neurosci. 2022. PMID: 35367590 Free PMC article.
POGZ is a pogo transposable element derived protein with multiple zinc finger domains. ...However, the role of POGZ in human cortical development remains poorly understood. Here we generated multiple POGZ LoF lines in H9 human embryonic stem cells (hESCs) usi …
POGZ is a pogo transposable element derived protein with multiple zinc finger domains. ...However, the role of POGZ in human c …
CHAMP1-POGZ counteracts the inhibitory effect of 53BP1 on homologous recombination and affects PARP inhibitor resistance.
Fujita H, Ikeda M, Ui A, Ouchi Y, Mikami Y, Kanno SI, Yasui A, Tanaka K. Fujita H, et al. Oncogene. 2022 May;41(19):2706-2718. doi: 10.1038/s41388-022-02299-6. Epub 2022 Apr 7. Oncogene. 2022. PMID: 35393543
Furthermore, loss of CHAMP1 and POGZ restored the sensitivity to a PARP inhibitor in cells depleted of 53BP1 together with BRCA1. These data suggest that CHAMP1and POGZ counteract the inhibitory effect of 53BP1 on HR by promoting DNA end resection and affect the res …
Furthermore, loss of CHAMP1 and POGZ restored the sensitivity to a PARP inhibitor in cells depleted of 53BP1 together with BRCA1. The …
84 results