| Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders. | Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
Brea-Fernández AJ, Souto-Trinei FA, Iglesias E, Caamaño P, Rodríguez Sánchez B, Gómez Lado C, Eiris J, Fernández-Prieto M, Barros F, Brea RJ, Carracedo Á. | 05/23/2024 |
| A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability. | A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.
Li N, Kang H, Zou Y, Liu Z, Deng Y, Wang M, Li L, Qin H, Qiu X, Wang Y, Zhu J, Agostino M, Heng JI, Yu P. | 10/24/2023 |
| ZBTB18 inhibits SREBP-dependent lipid synthesis by halting CTBPs and LSD1 activity in glioblastoma. | ZBTB18 inhibits SREBP-dependent lipid synthesis by halting CTBPs and LSD1 activity in glioblastoma.
Ferrarese R, Izzo A, Andrieux G, Lagies S, Bartmuss JP, Masilamani AP, Wasilenko A, Osti D, Faletti S, Schulzki R, Yuan S, Kling E, Ribecco V, Heiland DH, Tholen S, Prinz M, Pelicci G, Kammerer B, Boerries M, Carro MS., Free PMC Article | 12/3/2022 |
| Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease. | Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Heng JI, Viti L, Pugh K, Marshall OJ, Agostino M., Free PMC Article | 06/18/2022 |
| Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis. | Identification of ZBTB18 as a novel colorectal tumor suppressor gene through genome-wide promoter hypermethylation analysis.
Bazzocco S, Dopeso H, Martínez-Barriocanal Á, Anguita E, Nieto R, Li J, García-Vidal E, Maggio V, Rodrigues P, de Marcondes PG, Schwartz S Jr, Aaltonen LA, Sánchez A, Mariadason JM, Arango D., Free PMC Article | 01/22/2022 |
| General population ZBTB18 missense variants influence DNA binding and transcriptional regulation. | General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
Hemming IA, Blake S, Agostino M, Heng JI. | 11/13/2021 |
| The Zinc Finger Protein Zbtb18 Represses Expression of Class I Phosphatidylinositol 3-Kinase Subunits and Inhibits Plasma Cell Differentiation. | The Zinc Finger Protein Zbtb18 Represses Expression of Class I Phosphatidylinositol 3-Kinase Subunits and Inhibits Plasma Cell Differentiation.
Xie B, Khoyratty TE, Abu-Shah E, F Cespedes P, MacLean AJ, Pirgova G, Hu Z, Ahmed AA, Dustin ML, Udalova IA, Arnon TI., Free PMC Article | 08/28/2021 |
| Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease. | Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease.
Blake S, Hemming I, Heng JI, Agostino M. | 07/3/2021 |
| Up-regulated miR-155 is associated with poor prognosis in childhood acute lymphoblastic leukemia and promotes cell proliferation targeting ZNF238. | Up-regulated miR-155 is associated with poor prognosis in childhood acute lymphoblastic leukemia and promotes cell proliferation targeting ZNF238.
Liang C, Li Y, Wang LN, Zhang XL, Luo JS, Peng CJ, Tang WY, Huang LB, Tang YL, Luo XQ. | 05/15/2021 |
| CtBP2 interacts with ZBTB18 to promote malignancy of glioblastoma. | CtBP2 interacts with ZBTB18 to promote malignancy of glioblastoma.
Chen L, Wang L, Qin J, Wei DS. | 12/5/2020 |
| our results suggest that altered transcriptional regulation could represent an important pathological mechanism for ZBTB18 missense variants in brain developmental disease. | Disease-associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex.
Hemming IA, Clément O, Gladwyn-Ng IE, Cullen HD, Ng HL, See HB, Ngo L, Ulgiati D, Pfleger KDG, Agostino M, Heng JI. | 03/14/2020 |
| This study characterizes the role of the putative tumor suppressor ZBTB18 and its regulation by promoter hypermethylation, which appears to be a common mechanism to silence ZBTB18 in the mesenchymal subtype of GBM and provides a new mechanistic opportunity to specifically target this tumor subclass | Epigenetic Regulation of ZBTB18 Promotes Glioblastoma Progression.
Fedele V, Dai F, Masilamani AP, Heiland DH, Kling E, Gätjens-Sanchez AM, Ferrarese R, Platania L, Soroush D, Kim H, Nelander S, Weyerbrock A, Prinz M, Califano A, Iavarone A, Bredel M, Carro MS., Free PMC Article | 04/21/2018 |
| results confirm and refine the complex genotype-phenotype correlations existing in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of AKT3, ZBTB18 and HNRNPU in humans | Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G, DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C., Free PMC Article | 06/24/2017 |
| De novo missense and truncating variants in ZBTB18 cause intellectual disability. | Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A. | 06/3/2017 |
| This report indicates that haploinsufficiency of additional genes beside ZBTB18 causes the high frequency of corpus callosum anomalies in patients with microdeletions of 1q43q44 and underlines the importance of an NGS-based molecular diagnostic in complex phenotypes | A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old female.
Ehmke N, Karge S, Buchmann J, Korinth D, Horn D, Reis O, Häßler F. | 05/13/2017 |
| repression of the CR2/CD21 promoter can occur through one of the E-box motifs via recruitment of RP58. | Analysis of tandem E-box motifs within human Complement receptor 2 (CR2/CD21) promoter reveals cell specific roles for RP58, E2A, USF and localized chromatin accessibility.
Cruickshank MN, Dods J, Taylor RL, Karimi M, Fenwick EJ, Quail EA, Rea AJ, Holers VM, Abraham LJ, Ulgiati D. | 03/12/2016 |
| RP58 may act to favor neuronal differentiation and brain growth by coherently repressing multiple proneurogenic genes in a timely manner. | RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.
Xiang C, Baubet V, Pal S, Holderbaum L, Tatard V, Jiang P, Davuluri RV, Dahmane N., Free PMC Article | 07/7/2012 |
| Findings indicate that ZNF238 is a novel brain tumor suppressor and its reactivation in tumors could open a novel anticancer strategy. | ZNF238 is expressed in postmitotic brain cells and inhibits brain tumor growth.
Tatard VM, Xiang C, Biegel JA, Dahmane N. | 03/15/2010 |