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Select item 108757451.

Genetic analysis of a pedigree with MECP2 duplication syndrome in China

Lan Zeng, Hui Zhu, Jin Wang, Qiyan Wang, Ying Pang, Zemin Luo, Ai Chen, Shengfang Qin, Shuyao Zhu

BMC Med Genomics. 2024; 17: 54. Published online 2024 Feb 19. doi: 10.1186/s12920-024-01831-9

PMCID:: PMC10875745

Article PDF–2.4M

Select item 108577742.

Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation

Jialin Sun, Sivan Osenberg, Austin Irwin, Li-Hua Ma, Nigel Lee, Yangfei Xiang, Feng Li, Ying-Wooi Wan, In-Hyun Park, Mirjana Maletic-Savatic, Nurit Ballas

Cell Rep. Author manuscript; available in PMC 2024 Feb 9.

Published in final edited form as: Cell Rep. 2023 Jan 31; 42(1): 111942. Published online 2023 Jan 5. doi: 10.1016/j.celrep.2022.111942

PMCID:: PMC10857774

Article PDF–4.3M

Select item 107695553.

Analysis of the interplay between MeCP2 and histone H1 during in vitro differentiation of human ReNCell neural progenitor cells

Edilene Siqueira, Bo-Hyun Kim, Larry Reser, Robert Chow, Kerry Delaney, Manel Esteller, Mark M. Ross, Jeffrey Shabanowitz, Donald F. Hunt, Sonia Guil, Juan Ausió

Epigenetics. 2023; 18(1): 2276425. Published online 2023 Nov 17. doi: 10.1080/15592294.2023.2276425

PMCID:: PMC10769555

Article PDF–7.1M

Select item 103290354.

Methyl-CpG binding protein 2 expression is associated with symptom severity in patients with PTSD in a sex-dependent manner

Livia Cosentino, Stephanie H. Witt, Helene Dukal, Francesca Zidda, Sebastian Siehl, Herta Flor, Bianca De Filippis

Transl Psychiatry. 2023; 13: 249. Published online 2023 Jul 7. doi: 10.1038/s41398-023-02529-9

PMCID:: PMC10329035

Article PDF–840K

Select item 101200915.

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males

Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Bao

BMC Med. 2023; 21: 155. Published online 2023 Apr 20. doi: 10.1186/s12916-023-02846-2

PMCID:: PMC10120091

Article PDF–2.1M

Select item 98719836.

Impact of Rett Syndrome Mutations on MeCP2 MBD Stability

Tugba G Kucukkal, Ye Yang, Olga Uvarov, Weiguo Cao, Emil Alexov

Biochemistry. Author manuscript; available in PMC 2023 Jan 24.

Published in final edited form as: Biochemistry. 2015 Oct 20; 54(41): 6357–6368. Published online 2015 Oct 8. doi: 10.1021/acs.biochem.5b00790

PMCID:: PMC9871983

Article PDF–2.6M

Select item 97792947.

The Chromatin Structure at the MECP2 Gene and In Silico Prediction of Potential Coding and Non-Coding MECP2 Splice Variants

Danilo Shevkoplyas, Yen My Vuu, James R. Davie, Mojgan Rastegar

Int J Mol Sci. 2022 Dec; 23(24): 15643. Published online 2022 Dec 9. doi: 10.3390/ijms232415643

PMCID:: PMC9779294

Article PDF–6.9M

Select item 96451198.

Kathryn H. Morelli, Wenhao Jin, Shashank Shathe, Assael A. Madrigal, Krysten L. Jones, Joshua L. Schwartz, Tristan Bridges, Jasmine R. Mueller, Archana Shankar, Isaac A. Chaim, John W. Day, Gene W. Yeo

Sci Transl Med. Author manuscript; available in PMC 2022 Nov 9.

Published in final edited form as: Sci Transl Med. 2022 Jun 29; 14(651): eabn2375. Published online 2022 Jun 29. doi: 10.1126/scitranslmed.abn2375

PMCID:: PMC9645119

Article PDF–3.4M

Select item 95767009.

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

Rebecca S. F. Mok, Wenbo Zhang, Taimoor I. Sheikh, Kartik Pradeepan, Isabella R. Fernandes, Leah C. DeJong, Gabriel Benigno, Matthew R. Hildebrandt, Marat Mufteev, Deivid C. Rodrigues, Wei Wei, Alina Piekna, Jiajie Liu, Alysson R. Muotri, John B. Vincent, Lyle Muller, Julio Martinez-Trujillo, Michael W. Salter, James Ellis

Transl Psychiatry. 2022; 12: 450. Published online 2022 Oct 18. doi: 10.1038/s41398-022-02216-1

PMCID:: PMC9576700

Article PDF–15M

Select item 910580510.

Differential Sensitivity of the Protein Translation Initiation Machinery and mTOR Signaling to MECP2 Gain- and Loss-of-Function Involves MeCP2 Isoform-Specific Homeostasis in the Brain

Marjorie Buist, Nada El Tobgy, Danilo Shevkoplyas, Matthew Genung, Annan Ali Sher, Shervin Pejhan, Mojgan Rastegar

Cells. 2022 May; 11(9): 1442. Published online 2022 Apr 24. doi: 10.3390/cells11091442

PMCID:: PMC9105805

Article PDF–6.5M

Select item 903609811.

Methyl-CpG binding protein 2 is associated with the prognosis and mortality of elderly patients with hip fractures

Xuejian Gao, Shan Xue, Fuqiang Yang, Baoling Wu, Xiaojing Yu, Baoquan An

Clinics (Sao Paulo) 2022 Jan-Dec; 77: 100034. Published online 2022 Apr 15. doi: 10.1016/j.clinsp.2022.100034

PMCID:: PMC9036098

Article PDF–1.1M

Select item 887039112.

The Role of MeCP2 in Regulating Synaptic Plasticity in the Context of Stress and Depression

Carla L. Sánchez-Lafuente, Lisa E. Kalynchuk, Hector J. Caruncho, Juan Ausió

Cells. 2022 Feb; 11(4): 748. Published online 2022 Feb 21. doi: 10.3390/cells11040748

PMCID:: PMC8870391

Article PDF–6.8M

Select item 843176213.

MECP2-Related Disorders in Males

Ainhoa Pascual-Alonso, Antonio F. Martínez-Monseny, Clara Xiol, Judith Armstrong

Int J Mol Sci. 2021 Sep; 22(17): 9610. Published online 2021 Sep 4. doi: 10.3390/ijms22179610

PMCID:: PMC8431762

Article PDF–508K

Select item 831054314.

Graded and pan-neural disease phenotypes of Rett Syndrome linked with dosage of functional MeCP2

Xiaoying Chen, Xu Han, Bruno Blanchi, Wuqiang Guan, Weihong Ge, Yong-Chun Yu, Yi E. Sun

Protein Cell. 2021 Aug; 12(8): 639–652. Published online 2020 Aug 27. doi: 10.1007/s13238-020-00773-z

PMCID:: PMC8310543

Article PDF–2.5M

Select item 828633515.

Proteomic and transcriptional changes associated with MeCP2 dysfunction reveal nodes for therapeutic intervention in Rett syndrome

Ketan Marballi, Jessica L. MacDonald

Neurochem Int. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Neurochem Int. 2021 Sep; 148: 105076. Published online 2021 May 26. doi: 10.1016/j.neuint.2021.105076

PMCID:: PMC8286335

Article PDF–693K

Select item 807312616.

Circulating 4-F_4t-Neuroprostane and 10-F_4t-Neuroprostane Are Related to MECP2 Gene Mutation and Natural History in Rett Syndrome

Cinzia Signorini, Silvia Leoncini, Thierry Durand, Jean-Marie Galano, Alexandre Guy, Valérie Bultel-Poncé, Camille Oger, Jetty Chung-Yung Lee, Lucia Ciccoli, Joussef Hayek, Claudio De Felice

Int J Mol Sci. 2021 Apr; 22(8): 4240. Published online 2021 Apr 19. doi: 10.3390/ijms22084240

PMCID:: PMC8073126

Article PDF–16M

Select item 802569817.

Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders

Michela Fagiolini, Annarita Patrizi, Jocelyn LeBlanc, Lee-Way Jin, Izumi Maezawa, Sarah Sinnett, Steven J. Gray, Sophie Molholm, John J. Foxe, Michael V. Johnston, Sakkubai Naidu, Mary Blue, Ahamed Hossain, Shilpa Kadam, Xinyu Zhao, Quiang Chang, Zhaolan Zhou, Huda Zoghbi

Neuroscience. Author manuscript; available in PMC 2021 Oct 1.

Published in final edited form as: Neuroscience. 2020 Oct 1; 445: 190–206. Published online 2020 Apr 29. doi: 10.1016/j.neuroscience.2020.04.037

PMCID:: PMC8025698

Article PDF–391K

Select item 800077418.

Phenotypic features in MECP2 duplication syndrome: Effects of age

Sarika U. Peters, Cary Fu, Eric D. Marsh, Tim A. Benke, Bernard Suter, Steve A. Skinner, David N. Lieberman, Shannon Standridge, Mary Jones, Arthur Beisang, Timothy Feyma, Peter Heydeman, Robin Ryther, Daniel G. Glaze, Alan K. Percy, Jeffrey L. Neul

Am J Med Genet A. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Am J Med Genet A. 2021 Feb; 185(2): 362–369. Published online 2020 Nov 10. doi: 10.1002/ajmg.a.61956

PMCID:: PMC8000774

Article PDF–551K

Select item 789168219.

Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome

Michael Sean Carroll, Jan-Marino Ramirez, Debra E Weese-Mayer

J Med Genet. Author manuscript; available in PMC 2021 Feb 18.

Published in final edited form as: J Med Genet. 2020 Nov; 57(11): 786–793. Published online 2020 Mar 10. doi: 10.1136/jmedgenet-2019-106601

PMCID:: PMC7891682

Article PDF–1.2M

Select item 773581920.

MeCP2 links heterochromatin condensates and neurodevelopmental disease

Charles H. Li, Eliot L. Coffey, Alessandra Dall’Agnese, Nancy M. Hannett, Xin Tang, Jonathan E. Henninger, Jesse M. Platt, Ozgur Oksuz, Alicia V. Zamudio, Lena K. Afeyan, Jurian Schuijers, X. Shawn Liu, Styliani Markoulaki, Tenzin Lungjangwa, Gary LeRoy, Devon S. Svoboda, Emile Wogram, Tong Ihn Lee, Rudolf Jaenisch, Richard A. Young

Nature. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Nature. 2020 Oct; 586(7829): 440–444. Published online 2020 Jul 22. doi: 10.1038/s41586-020-2574-4

PMCID:: PMC7735819

Article PDF–3.5M

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