All Relations between Neurodevelopmental Disorders and mecp2

Publication Sentence Publish Date Extraction Date Species
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
Eleonora Maino, Ori Scott, Samar Z Rizvi, Wing Suen Chan, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S Sengar, Michael W Salter, Zhengping Jia, Janet Rossant, Ronald D Cohn, Bin Gu, Evgueni A Ivakin. A Cas9-fusion proximity-based approach generates an Irak1-Mecp2 tandem duplication mouse model for the study of MeCP2 duplication syndrome. Disease models & mechanisms. 2024-06-17. PMID:38881329. mecp2 duplication syndrome (mds) is a neurodevelopmental disorder caused by tandem duplication of the mecp2 locus and its surrounding genes, including irak1. 2024-06-17 2024-06-19 mouse
Hong-Wei Dong, Kelly Weiss, Kathryn Baugh, Mac J Meadows, Colleen M Niswender, Jeffrey L Neu. Potentiation of the muscarinic acetylcholine receptor 1 modulates neurophysiological features in a mouse model of Rett syndrome. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2024-06-16. PMID:38880672. rett syndrome (rtt) is a neurodevelopmental disorder primarily caused by mutations in the x chromosome-linked gene methyl-cpg binding protein 2 (mecp2). 2024-06-16 2024-06-19 mouse
Kathleen J Motil, Arthur Beisang, Constance Smith-Hicks, Anthony Lembo, Shannon M Standridge, Edwin Li. Recommendations for the management of gastrointestinal comorbidities with or without trofinetide use in rett syndrome. Expert review of gastroenterology & hepatology. 2024-06-13. PMID:38869952. although gastrointestinal (gi) comorbidities are experienced by over 90% of individuals with rett syndrome (rtt), a neurodevelopmental disorder associated with mutations in the mecp2 gene, many neurologists and pediatricians do not rank the management of these comorbidities among the most important treatment goals for rtt. 2024-06-13 2024-06-16 Not clear
Destynie Medeiros, Karen Ayala-Baylon, Hailey Egido-Betancourt, Eric Miller, Christopher Chapleau, Holly Robinson, Mary L Phillips, Tao Yang, Frank M Longo, Wei Li, Lucas Pozzo-Mille. A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome mice. Disease models & mechanisms. vol 17. issue 6. 2024-05-24. PMID:38785269. rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in mecp2, which encodes methyl-cpg-binding protein 2, a transcriptional regulator of many genes, including brain-derived neurotrophic factor (bdnf). 2024-05-24 2024-05-27 mouse
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Rober Kopajtich, Holger Prokisch, Judith Armstron. Multi-omics in MECP2 duplication syndrome patients and carriers. The European journal of neuroscience. 2024-05-15. PMID:38746988. mecp2 duplication syndrome (mds) is an x-linked neurodevelopmental disorder caused by the gain of dose of at least the genes mecp2 and irak1 and is characterised by intellectual disability (id), developmental delay, hypotonia, epilepsy and recurrent infections. 2024-05-15 2024-05-27 human
Indumathy Jagadeeswaran, Jiyoung Oh, Sarah E Sinnet. Preclinical milestones in MECP2 gene transfer for treating Rett syndrome. Developmental neuroscience. 2024-05-09. PMID:38723617. rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the transcriptional regulator methyl-cpg-binding protein 2 (mecp2). 2024-05-09 2024-05-27 mouse
Yi Liu, Anthony Flamier, George W Bell, Annette Jun Diao, Troy W Whitfield, Hao-Che Wang, Yizhe Wu, Fabian Schulte, Max Friesen, Ruisi Guo, Maisam Mitalipova, X Shawn Liu, Seychelle M Vos, Richard A Young, Rudolf Jaenisc. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons. Neuron. 2024-05-02. PMID:38697112. mutations in the methyl-dna-binding protein mecp2 cause the neurodevelopmental disorder rett syndrome (rtt). 2024-05-02 2024-05-05 human
Nicholas J Santistevan, Colby T Ford, Cole S Gilsdorf, Yevgenya Grinbla. Behavioral and transcriptomic analyses of mecp2 function in zebrafish. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2024-03-29. PMID:38551133. rett syndrome (rtt), a human neurodevelopmental disorder characterized by severe cognitive and motor impairments, is caused by dysfunction of the conserved transcriptional regulator methyl-cpg-binding protein 2 (mecp2). 2024-03-29 2024-03-31 mouse
Dennis Lebeda, Adrian Fierenz, Lina Werfel, Rina Rosin-Arbesfeld, Julia Hofhuis, Sven Thom. Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations. Journal of molecular medicine (Berlin, Germany). 2024-03-02. PMID:38430393. rett syndrome (rtt) is a neurodevelopmental disorder resulting from genetic mutations in the methyl cpg binding protein 2 (mecp2) gene. 2024-03-02 2024-03-04 Not clear
Breanne J Byiers, Alyssa M Merbler, Chantel C Barney, Kristin A Frenn, Angela Panoskaltsis-Mortari, Michael J Ehrhardt, Timothy J Feyma, Arthur A Beisang, Frank Symon. Evidence of altered salivary cytokine concentrations in Rett syndrome and associations with clinical severity. Brain, behavior, & immunity - health. vol 1. 2024-02-20. PMID:38377412. immune dysregulation may play a role in the development of rett syndrome (rtt), a neurodevelopmental disorder caused by mutations of the mecp2 gene. 2024-02-20 2024-02-23 Not clear
Anastasia Neklyudova, Rabiat Kuramagomedova, Victoria Voinova, Olga Sysoev. Atypical brain responses to 40-Hz click trains in girls with Rett syndrome: Auditory steady-state response and sustained wave. Psychiatry and clinical neurosciences. 2024-02-07. PMID:38321640. the current study aimed to infer neurophysiological mechanisms of auditory processing in children with rett syndrome (rtt)-rare neurodevelopmental disorders caused by mecp2 mutations. 2024-02-07 2024-02-09 Not clear
Ze Cao, Xia Min, Xingxing Xie, Maoqing Huang, Yingying Liu, Weimin Sun, Guifang Xu, Miao He, Kaiwen He, Ying Li, Junying Yua. RIPK1 activation in Mecp2-deficient microglia promotes inflammation and glutamate release in RTT. Proceedings of the National Academy of Sciences of the United States of America. vol 121. issue 6. 2024-01-30. PMID:38289948. rett syndrome (rtt) is a devastating neurodevelopmental disorder primarily caused by mutations in the methyl-cpg binding protein 2 (mecp2) gene. 2024-01-30 2024-02-02 mouse
Priscila Frayre, Karen Ponce-Rubio, Jessica Frayre, Jacquelin Medrano, Elisa Sun N. POMC-specific knockdown of MeCP2 leads to adverse phenotypes in mice chronically exposed to high fat diet. Behavioural brain research. 2024-01-15. PMID:38224819. methyl-cpg binding protein 2 (mecp2) is an epigenetic factor associated with the neurodevelopmental disorders rett syndrome and mecp2 duplication syndrome. 2024-01-15 2024-01-18 mouse
Danielle Mendonca, Gerarda Cappuccio, Jennifer Sheppard, Magdalena Delacruz, Jesse Bengtsson, Claudia M B Carvalho, Aleksandar Bajic, Hyekyung Park, Jean J Kim, Paymaan Jafar-Nejad, Christine Coquery, Davut Pehlivan, Bernhard Suter, Mirjana Maletic-Savati. Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome. Stem cell research. vol 74. 2023-12-28. PMID:38154383. mecp2 duplication syndrome (mds) is a rare, severe neurodevelopmental disorder arising from duplications in the xq28 region containing the mecp2 gene that predominantly affects males. 2023-12-28 2023-12-31 human
Mohan Gomathi, Venkatesan Dhivya, Vijayakumar Padmavathi, Murugasamy Pradeepkumar, S Robert Wilson, Nachimuthu Senthil Kumar, Vellingiri Balachanda. Genetic Instability and Disease Progression of Indian Rett Syndrome Patients. Molecular neurobiology. 2023-12-26. PMID:38147229. rett syndrome (rtt) is the rare neurodevelopmental disorder caused by mutations in methyl cpg binding protein 2 (mecp2) gene with a prevalence of 1:10,000 worldwide. 2023-12-26 2023-12-28 Not clear
Junfang Wu, Qingyu Hu, Xiaoping Rao, Hongyang Zhao, Huiru Tang, Yulan Wan. Gut microbiome and metabolic profiles of mouse model for MeCP2 duplication syndrome. Brain research bulletin. 2023-12-25. PMID:38145758. the extra copy of the methyl-cpg-binding protein 2 (mecp2) gene causes mecp2 duplication syndrome (mds), a neurodevelopmental disorder characterized by intellectual disability and autistic phenotypes. 2023-12-25 2023-12-28 mouse
Arianna Pasqui, Vittoria Cicaloni, Laura Tinti, Anna Guiotto, Cristina Tinti, Alessia Mori, Marco Bruttini, Joussef Hayek, Alessandra Pecorelli, Laura Salvini, Giuseppe Valacch. A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways. Archives of biochemistry and biophysics. 2023-12-18. PMID:38110111. mutations in the x-linked methyl-cpg-binding 2 (mecp2) gene lead to rett syndrome (rtt; omim 312750), a devasting neurodevelopmental disorder. 2023-12-18 2023-12-21 Not clear
Santosh R D'Mell. Rett and Rett-related disorders: Common mechanisms for shared symptoms? Experimental biology and medicine (Maywood, N.J.). 2023-12-07. PMID:38057990. rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in the methyl-cpg binding protein-2 (mecp2) gene that is characterized by epilepsy, intellectual disability, autistic features, speech deficits, and sleep and breathing abnormalities. 2023-12-07 2023-12-10 Not clear