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Research Studies

Our POGZ Research Hub 

01.

PMID: 38350721

Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder

Authors: Marquezini BP, Moysés-Oliveira M, Kloster A, Cunha L, Deconto TB, Mosini AC, Guerreiro P, Paschalidis M, Adami LNG, Andersen ML, et al.

02.

PMID: 35367590

Loss of POGZ alters neural differentiation of human embryonic stem cells

Authors: Deng L, Mojica-Perez SP, Azaria RD, Schultz M, Parent JM, Niu W

03.

PMID: 35052493

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Authors: Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, et al.

04.

PMID: 34206215

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome (POGZ): Case Report and Review of the Literature

Authors: Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, et al.

05.

PMID: 33726803

Intranasal oxytocin administration ameliorates social behavioral deficits in a POGZ<sup>WT/Q1038R</sup> mouse model of autism spectrum disorder

Authors: Kitagawa K, Matsumura K, Baba M, Kondo M, Takemoto T, Nagayasu K, et al.

06.

PMID: 33277917

Neuropsychological study in 19 French patients with White–Sutton syndrome and POGZ mutations

Authors: Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau Van Kien P, Smol T, et al.

07.

PMID:  32359026

A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype

Authors: Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D’Elia G, Novelli A, Majore S, Grammatico P

08.

PMID: 31782611

Phenotypic expansion of POGZ-related intellectual disability syndrome (White–Sutton syndrome)

Authors: Batzir NA, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Moreno MM, et al.

09.

PMID: 34879283

Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes

Authors: Batzir NA, Posey JE, Song X, Akdemir ZC, Rosenfeld JA, Brown CW, Chen E, Holtrop SG, Mizerik E, Moreno MM, et al.

10.

PMID: 37494184

POGZ suppresses 2C transcriptional program and retrotransposable elements

Authors: Sun X, Zhang T, Tong B, Cheng L, Jiang W, Sun Y

11.

PMID: 34758190

POGZ promotes homology-directed DNA repair in an HP1-dependent manner

Authors: Heath J, Simo-Cheyou E, Findlay S, Luo VM, Pinedo-Carpio E, Lee J, Djerir B, Chen X, Morin T, Lebeau B, et al.

12.

PMID: 31196716

Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development

Authors: Zhao W, Schaffer AE, Li Q, Zhou X, Cousin MA, Fox MA, Gurnett CA, Sullivan JM, Marsh ED, Christian SL, et al.

13.

PMID: 31347273

POGZ de novo missense variants in neuropsychiatric disorders

Authors: Zhao W, Tan Q, Xiong J, et al. (2019) Mol Genet Genomic Med.

14.

PMID: 26739615

POGZ truncating alleles cause syndromic intellectual disability (White–Sutton syndrome)

Authors: White J, Beck CR, Hodge A, et al. (2016) Genome Med.

19.

PMID: 26763879

A novel de novo POGZ mutation in a patient with intellectual disability

Authors: Tan B; Xue Y; Tang J; et al.

22.

PMID: 28480548

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism

Authors: Dentici ML; Niceta M; Pantaleoni F; Barresi S; Bencivenga P; Dallapiccola B; Digilio MC; Tartaglia M

27.

PMID: 33203851

Pogz deficiency leads to transcription dysregulation and impaired cerebellar activity underlying autism-like behavior in mice

Authors: 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 K-I; Yarom Y; Shifman S

35.

PMID: 35396900

A novel, de novo intronic variant in POGZ causes White-Sutton syndrome through haploinsufficiency

Authors: Merriweather A; et al.

36.

PMID: 35650610

Autism-associated protein POGZ controls ESCs and neural gene expression during differentiation

Authors: Sun X; et al.

38.

PMID: 36658409

Chromodomain on Y-like 2 (CDYL2) implicated in mitosis and genome stability regulation via interaction with CHAMP1 and POGZ

Authors: Siouda M; Dujardin AD; Mulligan P; et al.

40.

PMID: 37619992

Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation

Authors: Eskici N; et al.

42.

PMID: 27103995

De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ

Authors: Kensuke Matsumura; Takanobu Nakazawa; Kazuki Nagayasu; Nanaka Gotoda-Nishimura; Atsushi Kasai; Atsuko Hayata-Takano; Norihito Shintani; Hidenaga Yamamori; Yuka Yasuda; Ryota Hashimoto; Hitoshi Hashimoto

43.

PMID: 27148570

De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly

Authors: Yizhou Ye; Megan T Cho; Kyle Retterer; Nora Alexander; Tawfeg Ben-Omran; Mariam Al-Mureikhi; Ingrid Cristian; Patricia G Wheeler; Carrie Crain; Dina Zand; Veronique Weinstein; Hilary J Vernon; Rebecca McClellan; Vidya Krishnamurthy; Patrik Vitazka; Francisca Millan; Wendy K Chung

44.

PMID: 32103003

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

Authors: Kitagawa K; et al.

45.

PMID: 35948257

Congenital corneal opacities as a new feature in an unusual case of White-Sutton syndrome

Authors: Maria Fernanda Villalba; Ta Chen Chang

46.

PMID: 41279137

CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling

Authors: Moyses-Oliveira M, Liu Y, Erdin S, Gao D, Bhavsar R, Mohajeri K, O’Keefe K, Boone PM, Xavier G, Liao C, et al.

47.

PMID: 39829763

The zinc-finger protein POGZ associates with Polycomb repressive complex 1 to regulate BMP signaling during neuronal differentiation

Authors: Chavez J, Wolf T, Geng Z, Tai YT, Bright K, Stafford J, Gao Z et al.

50.

PMID: 38534384

Analyses of Conditional Knockout Mice for Pogz, a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain

Authors: Nanako Hamada, Takuma Nishijo, Ikuko Iwamoto, Sagiv Shifman, Koh-Ichi Nagata

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Cure POGZ Disorders Foundation does not discriminate against race, color, religion, gender, sexual orientation, national origin, age, disability, gender identity and expression, marital or military status, or any class protected by applicable law.

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