| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Ladan Kalani, Bo-Hyun Kim, Alberto Ruiz de Chavez, Anastasia Roemer, Anna Mikhailov, Jonathan K Merritt, Katrina V Good, Robert L Chow, Kerry R Delaney, Michael J Hendzel, Zhaolan Zhou, Jeffrey L Neul, John B Vincent, Juan Ausi\\xc3\\xb. Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms. Human molecular genetics. 2024-08-13. PMID:39137370.' |
mutations in methyl-cpg binding protein 2 (mecp2), such as the t158m, p152r, r294x, and r306c mutations, are responsible for most rett syndrome (rtt) cases. |
2024-08-13 |
2024-08-16 |
mouse |
| Sebastian N Maletz, Brandon T Reid, David M Baekey, Jessica R Whitaker-Fornek, Jordan T Bateman, Keiko Arakawa, John M Bissonnette, Erica S Levit. Effect of Positive Allosteric Modulation and Orthosteric Agonism of Dopamine D2-like Receptors on Respiration in Mouse Models of Rett Syndrome. Respiratory physiology & neurobiology. 2024-08-08. PMID:39117159. |
rett syndrome (rtt) is an autism spectrum disorder caused by loss-of-function mutations in the methyl-cpg-binding protein 2 (mecp2) gene. |
2024-08-08 |
2024-08-12 |
mouse |
| Marta Rodrigues de Carvalho, Thiago Toscano Cavalcante, Pedro Sudbrack Oliveira, Pedro Vicente Ferreira Naves, Paulo Emidio Lobão Cunh. Rett syndrome due to mutation in the MECP2 gene and electroencephalographic findings. Arquivos de neuro-psiquiatria. vol 82. issue 8. 2024-07-29. PMID:39074906. |
rett syndrome due to mutation in the mecp2 gene and electroencephalographic findings. |
2024-07-29 |
2024-08-02 |
Not clear |
| Shahar Bracha, Hannah J Johnson, Nicole A Pranckevicius, Francesca Catto, Athena E Economides, Sergey Litvinov, Karoliina Hassi, Marco Tullio Rigoli, Cristina Cheroni, Matteo Bonfanti, Alessia Valenti, Sarah Stucchi, Shruti Attreya, Paul D Ross, Daniel Walsh, Nati Malachi, Hagay Livne, Reut Eshel, Vladislav Krupalnik, Doron Levin, Stuart Cobb, Petros Koumoutsakos, Nicolò Caporale, Giuseppe Testa, Adriano Aguzzi, Anita A Koshy, Lilach Sheiner, Oded Rechav. Engineering Toxoplasma gondii secretion systems for intracellular delivery of multiple large therapeutic proteins to neurons. Nature microbiology. 2024-07-29. PMID:39075233. |
as proof of concept, we demonstrate gra16-mediated brain delivery of the mecp2 protein, a putative therapeutic target for rett syndrome. |
2024-07-29 |
2024-08-02 |
mouse |
| Philipp Reautschnig, Carolin Fruhner, Nicolai Wahn, Charlotte P Wiegand, Sabrina Kragness, John F Yung, Daniel T Hofacker, Jenna Fisk, Michelle Eidelman, Nils Waffenschmidt, Maximilian Feige, Laura S Pfeiffer, Annika E Schulz, Yvonne Füll, Erez Y Levanon, Gail Mandel, Thorsten Staffors. Precise in vivo RNA base editing with a wobble-enhanced circular CLUSTER guide RNA. Nature biotechnology. 2024-07-12. PMID:38997581. |
virus-mediated delivery of the guide rna alone realizes functional mecp2 protein restoration in the central nervous system of a murine rett syndrome model with editing yields of up to 19% and excellent bystander control in vivo. |
2024-07-12 |
2024-07-15 |
Not clear |
| 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 |
| 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 |
| Valeria Cordon. Biochemical and molecular determinants of the subclinical inflammatory mechanisms in Rett syndrome. Archives of biochemistry and biophysics. vol 757. 2024-06-02. PMID:38815782. |
to date, rett syndrome (rtt), a genetic disorder mainly caused by mutations in the x-linked mecp2 gene, is increasingly considered a broad-spectrum pathology, instead of just a neurodevelopmental disease, due to the multitude of peripheral co-morbidities and the compromised metabolic pathways, affecting the patients. |
2024-06-02 |
2024-06-05 |
Not clear |
| María Galán-Olleros, Elena González-Alguacil, Víctor Soto-Insuga, María Teresa Vara-Arias, Nelmar Valentina Ortiz-Cabrera, J Ignacio Serrano, Rosa M Egea-Gámez, Juan José García-Peñas, Ignacio Martínez-Caballer. Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients. Journal of autism and developmental disorders. 2024-05-25. PMID:38795288. |
orthopedic conditions and interplay with functional abilities and mecp2 variant subtype in rett syndrome patients. |
2024-05-25 |
2024-05-27 |
Not clear |
| María Galán-Olleros, Elena González-Alguacil, Víctor Soto-Insuga, María Teresa Vara-Arias, Nelmar Valentina Ortiz-Cabrera, J Ignacio Serrano, Rosa M Egea-Gámez, Juan José García-Peñas, Ignacio Martínez-Caballer. Orthopedic Conditions and Interplay with Functional Abilities and MECP2 Variant Subtype in Rett Syndrome Patients. Journal of autism and developmental disorders. 2024-05-25. PMID:38795288. |
rett syndrome (rtt) is a rare multi-systemic disorder primarily linked to mutations in mecp2 gene. |
2024-05-25 |
2024-05-27 |
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. |
rett syndrome (rtt) is mainly triggered by loss of function mutations in mecp2 and is a well described syndrome that presents id, epilepsy, lack of purposeful hand use and impaired speech, among others. |
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. |
preclinical milestones in mecp2 gene transfer for treating rett syndrome. |
2024-05-09 |
2024-05-27 |
mouse |
| 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 |
| Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma, Tadashi Shiohama, Yohei Hayash. Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations. Stem cell research. vol 77. 2024-05-04. PMID:38703668. |
generation of human induced pluripotent stem cell lines derived from four rett syndrome patients with mecp2 mutations. |
2024-05-04 |
2024-05-07 |
human |
| Miyu Mori, Shoko Yoshii, Michiya Noguchi, Daigo Takagi, Tomoya Shimizu, Hidenori Ito, Mami Matsuo-Takasaki, Yukio Nakamura, Satoru Takahashi, Hiromichi Hamada, Kiyoshi Ohnuma, Tadashi Shiohama, Yohei Hayash. Generation of human induced pluripotent stem cell lines derived from four Rett syndrome patients with MECP2 mutations. Stem cell research. vol 77. 2024-05-04. PMID:38703668. |
since the molecular pathogenesis caused by mecp2 dysfunction remains unclear, these cell resources are useful tools to establish disease models and develop new therapies for rett syndrome. |
2024-05-04 |
2024-05-07 |
human |
| 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 |
| Gabriel D Rodrigues, Ramona Cordani, Marco Veneruso, Lorenzo Chiarella, Giulia Prato, Raffaele Ferri, Angelica Carandina, Eleonora Tobaldini, Lino Nobili, Nicola Montan. Predominant cardiac sympathetic modulation during wake and sleep in patients with Rett syndrome. Sleep medicine. vol 119. 2024-05-01. PMID:38692221. |
rett syndrome (rtt) is a rare neurological disorder primarily associated with mutations in the methyl-cpg-binding protein 2 (mecp2) gene. |
2024-05-01 |
2024-05-04 |
human |