Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons. | Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons. Tomasello DL, Barrasa MI, Mankus D, Alarcon KI, Lytton-Jean AKR, Liu XS, Jaenisch R., Free PMC Article | 09/12/2024 |
Methyl-CpG-binding 2 K271 lactylation-mediated M2 macrophage polarization inhibits atherosclerosis. | Methyl-CpG-binding 2 K271 lactylation-mediated M2 macrophage polarization inhibits atherosclerosis. Chen L, Zhang M, Yang X, Wang Y, Huang T, Li X, Ban Y, Li Q, Yang Q, Zhang Y, Zheng Y, Wang D, Wang X, Shi X, Zhang M, Sun Y, Wu J., Free PMC Article | 08/9/2024 |
MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. | MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Liu Y, Flamier A, Bell GW, Diao AJ, Whitfield TW, Wang HC, Wu Y, Schulte F, Friesen M, Guo R, Mitalipova M, Liu XS, Vos SM, Young RA, Jaenisch R. | 07/10/2024 |
Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor. | Methyl-CpG-binding protein 2 regulates CYP27A1-induced myometrial contraction during preterm labor. Peng T, Cui J, Ni Z, Tang Y, Cao X, Li S, Cheng X, Huang J. | 06/7/2024 |
CRL4[DCAF13] E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes. | CRL4(DCAF13) E3 ubiquitin ligase targets MeCP2 for degradation to prevent DNA hypermethylation and ensure normal transcription in growing oocytes. Ren P, Tong X, Li J, Jiang H, Liu S, Li X, Lai M, Yang W, Rong Y, Zhang Y, Jin J, Ma Y, Pan W, Fan HY, Zhang S, Zhang YL., Free PMC Article | 04/10/2024 |
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome]. | [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome]. Zhang Q, Hao S, Hui L, Zheng L, Wang X, Feng X, Liu F, Chen X, Zhou B, Wang Y, Zhang C. | 03/11/2024 |
Genetic analysis of a pedigree with MECP2 duplication syndrome in China. | Genetic analysis of a pedigree with MECP2 duplication syndrome in China. Zeng L, Zhu H, Wang J, Wang Q, Pang Y, Luo Z, Chen A, Qin S, Zhu S., Free PMC Article | 03/4/2024 |
A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways. | A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways. Pasqui A, Cicaloni V, Tinti L, Guiotto A, Tinti C, Mori A, Bruttini M, Hayek J, Pecorelli A, Salvini L, Valacchi G. | 02/1/2024 |
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants. | Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants. Zlatic SA, Werner E, Surapaneni V, Lee CE, Gokhale A, Singleton K, Duong D, Crocker A, Gentile K, Middleton F, Dalloul JM, Liu WL, Patgiri A, Tarquinio D, Carpenter R, Faundez V., Free PMC Article | 12/28/2023 |
Analysis of the interplay between MeCP2 and histone H1 during in vitro differentiation of human ReNCell neural progenitor cells. | Analysis of the interplay between MeCP2 and histone H1 during in vitro differentiation of human ReNCell neural progenitor cells. Siqueira E, Kim BH, Reser L, Chow R, Delaney K, Esteller M, Ross MM, Shabanowitz J, Hunt DF, Guil S, Ausiö J., Free PMC Article | 11/20/2023 |
Circular RNA CircDHRS3 Aggravates IL-1beta-induced ECM Degradation, Apoptosis, and Inflammatory Response via Mediating MECP2 Expression. | Circular RNA CircDHRS3 Aggravates IL-1β-induced ECM Degradation, Apoptosis, and Inflammatory Response via Mediating MECP2 Expression. Ouyang X, Ding Y, Yu L, Xin F, Yang X, Liu X, Tong S. | 10/23/2023 |
Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study. | Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study. Canton APM, Tinano FR, Guasti L, Montenegro LR, Ryan F, Shears D, de Melo ME, Gomes LG, Piana MP, Brauner R, Espino-Aguilar R, Escribano-Muñoz A, Paganoni A, Read JE, Korbonits M, Seraphim CE, Costa SS, Krepischi AC, Jorge AAL, David A, Kaisinger LR, Ong KK, Perry JRB, Abreu AP, Kaiser UB, Argente J, Mendonca BB, Brito VN, Howard SR, Latronico AC., Free PMC Article | 08/3/2023 |
Exploring gastrointestinal health in MECP2 duplication syndrome. | Exploring gastrointestinal health in MECP2 duplication syndrome. Pehlivan D, Ak M, Glaze DG, Suter B, Motil KJ., Free PMC Article | 07/26/2023 |
Methyl-CpG binding protein 2 expression is associated with symptom severity in patients with PTSD in a sex-dependent manner. | Methyl-CpG binding protein 2 expression is associated with symptom severity in patients with PTSD in a sex-dependent manner. Cosentino L, Witt SH, Dukal H, Zidda F, Siehl S, Flor H, De Filippis B., Free PMC Article | 07/12/2023 |
MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males. | MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males. Wen Y, Wang J, Zhang Q, Yang X, Wei L, Bao X., Free PMC Article | 05/5/2023 |
DDX47, MeCP2, and other functionally heterogeneous factors protect cells from harmful R loops. | DDX47, MeCP2, and other functionally heterogeneous factors protect cells from harmful R loops. Marchena-Cruz E, Camino LP, Bhandari J, Silva S, Marqueta-Gracia JJ, Amdeen SA, Guillén-Mendoza C, García-Rubio ML, Calderón-Montaño JM, Xue X, Luna R, Aguilera A., Free PMC Article | 04/7/2023 |
Inhibiting lncRNA NEAT1 facilitates the sensitization of melanoma cells to cisplatin through modulating the miR-519c-3p-MeCP2 axis. | Inhibiting lncRNA NEAT1 facilitates the sensitization of melanoma cells to cisplatin through modulating the miR-519c-3p-MeCP2 axis. Chen Y, Chang Y, Zhou J, Lv L, Ying H. | 03/15/2023 |
MiR-422a promotes adipogenesis via MeCP2 downregulation in human bone marrow mesenchymal stem cells. | MiR-422a promotes adipogenesis via MeCP2 downregulation in human bone marrow mesenchymal stem cells. Giuliani A, Sabbatinelli J, Amatori S, Graciotti L, Silvestrini A, Matacchione G, Ramini D, Mensà E, Prattichizzo F, Babini L, Mattiucci D, Busilacchi EM, Bacalini MG, Espinosa E, Lattanzio F, Procopio AD, Olivieri F, Poloni A, Fanelli M, Rippo MR., Free PMC Article | 03/1/2023 |
Human MECP2 transgenic rats show increased anxiety, severe social deficits, and abnormal prefrontal neural oscillation stability. | Human MECP2 transgenic rats show increased anxiety, severe social deficits, and abnormal prefrontal neural oscillation stability. Li X, Nie Y, Qiu Z, Wang S. | 02/23/2023 |
Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation. | Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation. Sun J, Osenberg S, Irwin A, Ma LH, Lee N, Xiang Y, Li F, Wan YW, Park IH, Maletic-Savatic M, Ballas N., Free PMC Article | 02/11/2023 |
The Chromatin Structure at the MECP2 Gene and In Silico Prediction of Potential Coding and Non-Coding MECP2 Splice Variants. | The Chromatin Structure at the MECP2 Gene and In Silico Prediction of Potential Coding and Non-Coding MECP2 Splice Variants. Shevkoplyas D, Vuu YM, Davie JR, Rastegar M., Free PMC Article | 01/11/2023 |
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations. | Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations. Mok RSF, Zhang W, Sheikh TI, Pradeepan K, Fernandes IR, DeJong LC, Benigno G, Hildebrandt MR, Mufteev M, Rodrigues DC, Wei W, Piekna A, Liu J, Muotri AR, Vincent JB, Muller L, Martinez-Trujillo J, Salter MW, Ellis J., Free PMC Article | 10/22/2022 |
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline. | Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline. Kim JA, Kwon WK, Kim JW, Jang JH. | 10/15/2022 |
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. | Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. Cooley Coleman JA, Fee T, Bend R, Louie R, Annese F, Stallworth J, Worthington J, Buchanan CB, Everman DB, Skinner S, Friez MJ, Jones JR, Spellicy CJ. | 10/1/2022 |
MECP2 Dysautonomia Phenotypes in Boys. | MECP2 Dysautonomia Phenotypes in Boys. Courgeon L, Uguen K, Lefranc J, Lesca G, Ropars J. | 08/20/2022 |