| Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ. | Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ.
Siouda M, Dujardin AD, Dekeyzer B, Schaeffer L, Mulligan P. | 01/28/2023 |
| Loss of POGZ alters neural differentiation of human embryonic stem cells. | Loss of POGZ alters neural differentiation of human embryonic stem cells.
Deng L, Mojica-Perez SP, Azaria RD, Schultz M, Parent JM, Niu W., Free PMC Article | 06/18/2022 |
| POGZ promotes homology-directed DNA repair in an HP1-dependent manner. | 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., Free PMC Article | 03/19/2022 |
| Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. | 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., Free PMC Article | 02/26/2022 |
| Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes. | 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., Free PMC Article | 02/19/2022 |
| Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature. | Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L., Free PMC Article | 02/5/2022 |
| Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations. | Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogné B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau AC, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel AL, Mau-Them FT, Chevarin M, Vitobello A, Philippe C, Thauvin-Robinet C, Faivre L. | 01/1/2022 |
| Identification of abnormally high expression of POGZ as a new biomarker associated with a poor prognosis in osteosarcoma. | Identification of abnormally high expression of POGZ as a new biomarker associated with a poor prognosis in osteosarcoma.
Zheng S, Liu Y, Sun H, Jia J, Wu T, Ding R, Cheng X., Free PMC Article | 12/11/2021 |
| Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZ(WT/Q1038R) mouse model of autism spectrum disorder. | Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZ(WT/Q1038R) mouse model of autism spectrum disorder.
Kitagawa K, Matsumura K, Baba M, Kondo M, Takemoto T, Nagayasu K, Ago Y, Seiriki K, Hayata-Takano A, Kasai A, Takuma K, Hashimoto R, Hashimoto H, Nakazawa T., Free PMC Article | 12/11/2021 |
| A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations. | A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.
Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D'Elia G, Novelli A, Majore S, Grammatico P. | 05/1/2021 |
| Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). | Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Assia Batzir N, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Nieto Moreno M, Payne K, Raas-Rothschild A, Scott R, Vernon HJ, Zadeh N, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Sutton VR., Free PMC Article | 01/2/2021 |
| the important roles of rare inherited missense variants of POGZ in ASD risk and neuronal development | Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development.
Zhao W, Tan J, Zhu T, Ou J, Li Y, Shen L, Wu H, Han L, Liu Y, Jia X, Bai T, Li H, Ke X, Zhao J, Zou X, Hu Z, Guo H, Xia K. | 06/27/2020 |
| De novo likely gene-disrupting variants of POGZ cause autism spectrum disorder (ASD) and intellectual disability. | 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., Free PMC Article | 05/30/2020 |
| In silico analysis and western blotting revealed this frameshift mutation generating truncated protein in peripheral blood lymphocytes, and this may disrupt several important domains of POGZ gene. Our finding broadens the spectrum of POGZ mutations and may help to understand the molecular basis of Intellectual disability (ID) and aid genetic counseling. | A novel de novo POGZ mutation in a patient with intellectual disability.
Tan B, Zou Y, Zhang Y, Zhang R, Ou J, Shen Y, Zhao J, Luo X, Guo J, Zeng L, Hu Y, Zheng Y, Pan Q, Liang D, Wu L. | 04/1/2017 |
| Data suggest that loss of function variants in POGZ lead to an identifiable syndrome of neurodevelopmental disorders with specific phenotypic traits including intellectual disability. | POGZ truncating alleles cause syndromic intellectual disability.
White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR., Free PMC Article | 10/22/2016 |
| We find that POGZ is constitutively expressed across most tissues and has significantly higher levels of expression in the cerebellum and the pituitary gland. Disruption of POGZ is associated with intellectual disability and autism spectrum disorders | Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Stessman HAF, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJC, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T., Free PMC Article | 07/30/2016 |
| common LEDGF/p75 interaction interface shared by JPO2, PogZ, MLL1, IWS1 and HIV IN | Multiple cellular proteins interact with LEDGF/p75 through a conserved unstructured consensus motif.
Tesina P, Čermáková K, Hořejší M, Procházková K, Fábry M, Sharma S, Christ F, Demeulemeester J, Debyser Z, Rijck J, Veverka V, Řezáčová P. | 05/14/2016 |
| The results reveal POGZ as an essential protein that links HP1alpha dissociation with Aurora B kinase activation during mitosis. | Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation.
Nozawa RS, Nagao K, Masuda HT, Iwasaki O, Hirota T, Nozaki N, Kimura H, Obuse C. | 07/26/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| LEDGF/p75 has a role in DDE domain protein function and interacts with the transposase-derived DDE domain of PogZ | Lens epithelium-derived growth factor/p75 interacts with the transposase-derived DDE domain of PogZ.
Bartholomeeusen K, Christ F, Hendrix J, Rain JC, Emiliani S, Benarous R, Debyser Z, Gijsbers R, De Rijck J., Free PMC Article | 01/21/2010 |