| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sriharikrishnaa Srinath, Akanksha Kalal, Preethika Anand, Satyajit Mohapatra, Prabahan Chakrabort. Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. vol 85. issue 2. 2025-04-14. PMID:40223535. |
similarly, pten and mecp2, crucial for brain development, are associated with abnormal cell proliferation and neurodevelopmental disorders when mutated. |
2025-04-14 |
2025-04-16 |
Not clear |
| Vignesh N Hariharan, Ashley Summers, Amy E Clipperton-Allen, Jillian Caiazzi, Samuel R Hildebrand, Daniel O' Reilly, Qi Tang, Zachary Kennedy, Dimas Echeverria, Nicholas McHugh, David Cooper, Jacqueline Souza, Chantal Ferguson, Laurent Bogdanik, Monica Coenraads, Anastasia Khvorov. Single-dose administration of therapeutic divalent siRNA targeting MECP2 prevents lethality for one year in an MECP2 duplication mouse model. bioRxiv : the preprint server for biology. 2025-04-08. PMID:40196492. |
mecp2 duplication syndrome (mds) is a rare x-linked neurodevelopmental disorder caused by duplications of the dosage-sensitive methyl-cpg-binding protein 2 (mecp2) gene. |
2025-04-08 |
2025-04-10 |
mouse |
| Daniela Monteiro-Fernandes, Ian Charles, Sara Guerreiro, Daniela Cunha-Garcia, Joana Pereira-Sousa, Stéphanie Oliveira, Andreia Teixeira-Castro, Mark A Varney, Mark S Kleven, Adrian Newman-Tancredi, Ana P Sheikh Abdala, Sara Duarte-Silva, Patrícia Macie. Rescue of respiratory and cognitive impairments in Rett Syndrome mice using NLX-101, a selective 5-HT Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. vol 186. 2025-03-23. PMID:40121895. |
rescue of respiratory and cognitive impairments in rett syndrome mice using nlx-101, a selective 5-ht rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the x-linked gene encoding the methyl-cpg-binding protein 2 (mecp2). |
2025-03-23 |
2025-03-26 |
mouse |
| Joshua A R Brown, Maggie Y M Ling, Juan Ausió, LeAnn J How. Human MeCP2 binds to promoters and inhibits transcription in an unmethylated yeast genome. Genetics. 2025-03-18. PMID:40101152. |
a subset of mecp2 mutations that cause the neurodevelopmental disorder rett syndrome, particularly those that map to the dna binding domain, alleviate the toxicity of mecp2 in yeast. |
2025-03-18 |
2025-03-21 |
human |
| Tomer Poleg, Noam Hadar, Gali Heimer, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan M Jean, Ofek Freund, Simran Kaur, John Christodoulou, Bruria Ben-Zeev, Ohad S Bir. Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation. NPJ genomic medicine. vol 10. issue 1. 2025-03-14. PMID:40082422. |
rett syndrome (rtt) is a severe neurodevelopmental disorder, with mecp2 mutations accounting for 90-95% of classic and 50-70% of atypical cases. |
2025-03-14 |
2025-03-16 |
Not clear |
| Mackenzie Smith, Grace E Dodis, Amanda M Vanderplow, Sonia Gonzalez, Yewon Rhee, Karie Scrogin, Rocco G Gogliott. Potentiation of the M Neurobiology of disease. 2025-02-28. PMID:40021095. |
potentiation of the m rett syndrome (rtt) is a neurodevelopmental disorder that is caused by loss-of-function mutations in the methyl-cpg binding protein 2 (mecp2) gene. |
2025-02-28 |
2025-03-04 |
Not clear |
| Edilene Siqueira, Cecilia D Velasco, Ariadna Tarrasón, Marta Soler, Tara Srinivas, Fernando Setién, Cristina Oliveira-Mateos, Marta Casado-Pelaez, Laura Martinez-Verbo, Judith Armstrong, Manel Esteller, Letícia F Alves, Artur Llobet, Sonia Gui. NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome. Nucleic acids research. vol 53. issue 4. 2025-02-19. PMID:39970285. |
rett syndrome (rtt) is a severe neurodevelopmental disorder primarily caused by loss-of-function mutations in the mecp2 gene, resulting in diverse cellular dysfunctions. |
2025-02-19 |
2025-02-23 |
human |
| Edilene Siqueira, Cecilia D Velasco, Ariadna Tarrasón, Marta Soler, Tara Srinivas, Fernando Setién, Cristina Oliveira-Mateos, Marta Casado-Pelaez, Laura Martinez-Verbo, Judith Armstrong, Manel Esteller, Letícia F Alves, Artur Llobet, Sonia Gui. NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome. Nucleic acids research. vol 53. issue 4. 2025-02-08. PMID:39921568. |
rett syndrome (rtt) is a severe neurodevelopmental disorder primarily caused by loss-of-function mutations in the mecp2 gene, resulting in diverse cellular dysfunctions. |
2025-02-08 |
2025-02-11 |
human |
| b' Katrina V Good, Ladan Kalani, John B Vincent, Juan Ausi\\xc3\\xb. Multifaceted roles of MeCP2 in cellular regulation and phase separation: implications for neurodevelopmental disorders, depression, and oxidative stress. Biochemistry and cell biology = Biochimie et biologie cellulaire. vol 103. 2025-01-27. PMID:39761540.' |
multifaceted roles of mecp2 in cellular regulation and phase separation: implications for neurodevelopmental disorders, depression, and oxidative stress. |
2025-01-27 |
2025-01-29 |
Not clear |
| Gaea Dominguez, Yongji Wu, Jian Zho. Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex. Genes. vol 15. issue 12. 2025-01-08. PMID:39766920. |
epigenetic regulation and neurodevelopmental disorders: from mecp2 to the tcf20/phf14 complex. |
2025-01-08 |
2025-01-13 |
Not clear |
| Carla Caffarelli, Stefano Gonnell. The Management of Bone Defects in Rett Syndrome. Calcified tissue international. vol 116. issue 1. 2025-01-03. PMID:39751871. |
rett syndrome (rs) is a rare neurodevelopmental disorder primarily caused by mutations in the x-linked methyl-cpg binding protein 2 (mecp2) gene, responsible for encoding mecp2 which plays a pivotal role in regulating gene expression. |
2025-01-03 |
2025-01-05 |
Not clear |
| Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeldt, Maria Pettersson, Lynn Liu, Marwan S Shinawi, Virginia E Kimonis, Wojciech Wiszniewski, Kyle Mckenzie, Timo Roser, Angela M Vianna-Morgante, Alberto S Cornier, Ahmed Abdelmoity, James P Hwang, Shalini N Jhangiani, Donna M Muzny, Tadahiro Mitani, Kazuhiro Muramatsu, Shin Nabatame, Daniel G Glaze, Jawid M Fatih, Richard A Gibbs, Zhandong Liu, Anna Lindstrand, Fritz J Sedlazeck, James R Lupski, Huda Y Zoghbi, Claudia M B Carvalh. Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome medicine. vol 16. issue 1. 2024-12-19. PMID:39696717. |
mecp2 duplication syndrome, also known as x-linked intellectual developmental disorder lubs type (mrxsl; mim: 300260), is a neurodevelopmental disorder caused by copy number gains spanning mecp2. |
2024-12-19 |
2024-12-21 |
Not clear |
| Tatsuya Osaki, Zhengpeng Wan, Koji Haratani, Ylliah Jin, Macro Campisi, David A Barbie, Roger D Kamm, Mriganka Su. miR126-mediated impaired vascular integrity in Rett syndrome. bioRxiv : the preprint server for biology. 2024-10-17. PMID:39415995. |
rett syndrome (rtt) is a neurodevelopmental disorder that is caused by mutations in melty-cpg binding protein 2 (mecp2). |
2024-10-17 |
2024-10-19 |
Not clear |
| Osman Sharifi, Viktoria Haghani, Kari E Neier, Keith J Fraga, Ian Korf, Sophia M Hakam, Gerald Quon, Nelson Johansen, Dag H Yasui, Janine M LaSall. Sex-specific single cell-level transcriptomic signatures of Rett syndrome disease progression. Communications biology. vol 7. issue 1. 2024-10-09. PMID:39384967. |
while random xci usually protects females against x-linked mutations, rett syndrome (rtt) is a female neurodevelopmental disorder caused by heterozygous mecp2 mutation. |
2024-10-09 |
2024-10-12 |
mouse |
| Zi-Tong Zhang, Shu-Xuan Niu, Chen-Hao Yu, Shi-Yuan Wan, Jiao Wang, Cheng-Yu Liu, Ling Zheng, Kun Huang, Yu Zhan. USP15 inhibits hypoxia-induced IL-6 signaling by deubiquitinating and stabilizing MeCP2. The FEBS journal. 2024-10-08. PMID:39375927. |
the expression level of mecp2 is crucial, as indicated by the observation that loss-of-function mutations of mecp2 cause rett syndrome, whereas an extra copy spanning the mecp2 locus results in mecp2 duplication syndrome, both being progressive neurodevelopmental disorders. |
2024-10-08 |
2024-10-10 |
Not clear |
| Amanda M Vanderplow, Grace E Dodis, Yewon Rhee, Jakub J Cikowski, Sonia Gonzalez, Mackenzie L Smith, Rocco G Gogliott. Site-Blocking Antisense Oligonucleotides as a Mechanism to Fine-Tune MECP2 Expression. RNA (New York, N.Y.). 2024-10-08. PMID:39379106. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by loss-of-function mutations in the methyl cpg binding protein 2 (mecp2) gene. |
2024-10-08 |
2024-10-11 |
mouse |
| Nasim Bahram Sangani, Jarno Koetsier, Ana Rita Gomes, Maria Margarida Diogo, Tiago G Fernandes, Freek G Bouwman, Edwin C M Mariman, Mehrnaz Ghazvini, Joost Gribnau, Leopold M G Curfs, Chris P Reutelingsperger, Lars M T Eijsse. Involvement of extracellular vesicle microRNA clusters in developing healthy and Rett syndrome brain organoids. Cellular and molecular life sciences : CMLS. vol 81. issue 1. 2024-09-21. PMID:39305343. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by de novo mutations in the mecp2 gene. |
2024-09-21 |
2024-09-24 |
Not clear |
| Natalie Boyle, Yipeng Li, Xiaoqian Sun, Pan Xu, Chien-Hsien Lai, Sarah Betts, Dian Guo, Rahul Simha, Chen Zeng, Jianyang Du, Hui L. MeCP2 deficiency alters the response selectivity of prefrontal cortical neurons to different social stimuli. eNeuro. 2024-09-12. PMID:39266326. |
rett syndrome (rtt), a severe neurodevelopmental disorder caused by mutations in the mecp2 gene, is characterized by cognitive and social deficits. |
2024-09-12 |
2024-09-15 |
mouse |
| Tal David Berger, Chen Fogel Berger, Sewar Gara, Bruria Ben-Zeev, Batia Weis. Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up. European journal of pediatrics. 2024-07-03. PMID:38960904. |
rett syndrome is a rare neurodevelopmental disorder associated with methyl cpg binding protein 2 (mecp2) gene mutations. |
2024-07-03 |
2024-07-10 |
Not clear |
| Emilie Audouard, Nicolas Khefif, Béatrix Gillet-Legrand, Fanny Nobilleau, Ouafa Bouazizi, Serena Stanga, Gaëtan Despres, Sandro Alves, Antonin Lamazière, Nathalie Cartier, Françoise Pigue. Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome. Pharmaceutics. vol 16. issue 6. 2024-06-27. PMID:38931878. |
rett syndrome (rtt) is a rare neurodevelopmental disorder caused by mutation in the x-linked gene methyl-cpg-binding protein 2 (mecp2), a ubiquitously expressed transcriptional regulator. |
2024-06-27 |
2024-06-29 |
Not clear |