All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Azam Asgarihafshejani, Raad Nashmi, Kerry R Delane. Cell-Genotype Specific Effects of Mecp2 Mutation on Spontaneous and Nicotinic Acetylcholine Receptor-Evoked Currents in Medial Prefrontal Cortical Pyramidal Neurons in Female Rett Model Mice. Neuroscience. vol 414. 2020-03-13. PMID:31299345. rett syndrome (rtt) is a neurodevelopmental disorder caused by mutation in the x-linked mecp2 gene. 2020-03-13 2023-08-13 mouse
Robert E Thompson, Adam J Stevens, Tom W Mui. Protein engineering through tandem transamidation. Nature chemistry. vol 11. issue 8. 2020-03-10. PMID:31263208. we show that this approach can be used to introduce ptms and biochemical probes into a range of proteins including cas9 nuclease and the transcriptional regulator mecp2, which causes rett syndrome when mutated. 2020-03-10 2023-08-13 Not clear
Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Steven A Skinner, Jonathan Merritt, David N Lieberman, Shannon Standridge, Timothy Feyma, Peter Heydemann, Sarika Peters, Robin Ryther, Mary Jones, Bernhard Suter, Walter E Kaufmann, Daniel G Glaze, Alan K Perc. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 180. issue 1. 2020-03-09. PMID:30536762. mutations in the x-linked gene mecp2 are associated with a severe neurodevelopmental disorder, rett syndrome (rtt), primarily in girls. 2020-03-09 2023-08-13 human
Albert Sanfeliu, Walter E Kaufmann, Michael Gill, Paolo Guasoni, Daniela Trope. Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review. Neuroscience. vol 413. 2020-03-09. PMID:31229631. rett syndrome (rtt) is a neurological disorder mainly associated with mutations in the x-linked gene coding for the methyl-cpg binding protein 2 (mecp2). 2020-03-09 2023-08-13 mouse
Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek, Ranuccio Nut. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome. BMC medical genetics. vol 21. issue 1. 2020-03-03. PMID:32005172. methyl-cpg-binding protein 2 (mecp2) mutation type is associated with bone disease severity in rett syndrome. 2020-03-03 2023-08-13 human
Shayan Khalili Alashti, Jafar Fallahi, Sanaz Mohammadi, Fatemeh Dehghanian, Zahra Farbood, Marjan Masoudi, Shiva Poorang, Arezoo Jokar, Majid Fardae. Two novel mutations in the MECP2 gene in patients with Rett syndrome. Gene. vol 732. 2020-02-26. PMID:31958484. two novel mutations in the mecp2 gene in patients with rett syndrome. 2020-02-26 2023-08-13 Not clear
Kira Sheinerman, Aleksandra Djukic, Vladimir G Tsivinsky, Samuil R Umansk. Brain-enriched microRNAs circulating in plasma as novel biomarkers for Rett syndrome. PloS one. vol 14. issue 7. 2020-02-20. PMID:31291284. rett syndrome (rtt) is a severe neurodevelopmental disorder caused by mutations in the x-linked gene mecp2 (methyl-cpg-binding protein 2). 2020-02-20 2023-08-13 mouse
Laura A Lavery, Huda Y Zoghb. The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. Current opinion in neurobiology. vol 59. 2020-02-18. PMID:31542590. rett syndrome (rtt) is one of the most common causes of intellectual and developmental disabilities in girls, and is caused by mutations in the gene encoding methyl-cpg binding protein 2 (mecp2). 2020-02-18 2023-08-13 Not clear
Kubra Gulmez Karaca, David V C Brito, Ana M M Oliveir. MeCP2: A Critical Regulator of Chromatin in Neurodevelopment and Adult Brain Function. International journal of molecular sciences. vol 20. issue 18. 2020-02-11. PMID:31527487. mecp2 has a well-established function in neurodevelopment, as evidenced by the severe neurological impairments characteristic of the rett syndrome (rtt) pathology and the mecp2 duplication syndrome (mds), caused by loss or gain of mecp2 function, respectively. 2020-02-11 2023-08-13 Not clear
Maria Bernarda Pitzianti, Angelo Santamaria Palombo, Susanna Esposito, Augusto Pasin. Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28. International journal of environmental research and public health. vol 16. issue 17. 2020-02-03. PMID:31450876. rett syndrome in males: the different clinical course in two brothers with the same microduplication mecp2 xq28. 2020-02-03 2023-08-13 Not clear
Maria Bernarda Pitzianti, Angelo Santamaria Palombo, Susanna Esposito, Augusto Pasin. Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28. International journal of environmental research and public health. vol 16. issue 17. 2020-02-03. PMID:31450876. rett syndrome (rtt) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the x-linked methyl-cpg binding protein 2 (mecp2) gene in approximately 90% of patients. 2020-02-03 2023-08-13 Not clear
Matthew J Lyst, Robert Ekiert, Jacky Guy, Jim Selfridge, Martha V Koerner, Cara Merusi, Dina De Sousa, Adrian Bir. Affinity for DNA Contributes to NLS Independent Nuclear Localization of MeCP2. Cell reports. vol 24. issue 9. 2020-01-27. PMID:30157418. mecp2 is a nuclear protein that is mutated in the severe neurological disorder rett syndrome (rtt). 2020-01-27 2023-08-13 mouse
Stefan C Weise, Ganeshkumar Arumugam, Alejandro Villarreal, Pavankumar Videm, Stefanie Heidrich, Nils Nebel, Verónica I Dumit, Farahnaz Sananbenesi, Viktoria Reimann, Madeline Craske, Oliver Schilling, Wolfgang R Hess, Andre Fischer, Rolf Backofen, Tanja Voge. FOXG1 Regulates PRKAR2B Transcriptionally and Posttranscriptionally via miR200 in the Adult Hippocampus. Molecular neurobiology. vol 56. issue 7. 2020-01-14. PMID:30539330. rett syndrome is a complex neurodevelopmental disorder that is mainly caused by mutations in mecp2. 2020-01-14 2023-08-13 Not clear
Ming Lei, Wolfram Tempel, Sizhuo Chen, Ke Liu, Jinrong Mi. Plasticity at the DNA recognition site of the MeCP2 mCG-binding domain. Biochimica et biophysica acta. Gene regulatory mechanisms. vol 1862. issue 9. 2020-01-14. PMID:31356990. together, these crystal structures illustrate the adaptability of the mecp2-mbd toward the gtg motif as well as the mcg dna, and also provide structural basis of a biological role of mecp2 as a transcription activator and its disease implications in rett syndrome. 2020-01-14 2023-08-13 chicken
Tufikameni Brima, Sophie Molholm, Ciara J Molloy, Olga V Sysoeva, Eric Nicholas, Aleksandra Djukic, Edward G Freedman, John J Fox. Auditory sensory memory span for duration is severely curtailed in females with Rett syndrome. Translational psychiatry. vol 9. issue 1. 2020-01-09. PMID:30967526. rett syndrome (rtt), a rare neurodevelopmental disorder caused by mutations in the mecp2 gene, is typified by profound cognitive impairment and severe language impairment, rendering it very difficult to accurately measure auditory processing capabilities behaviorally in this population. 2020-01-09 2023-08-13 human
Uri Kahanovitch, Kelsey C Patterson, Raymundo Hernandez, Michelle L Olse. Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome. International journal of molecular sciences. vol 20. issue 15. 2020-01-07. PMID:31387202. glial dysfunction in mecp2 deficiency models: implications for rett syndrome. 2020-01-07 2023-08-13 Not clear
Carolina Aron W, Geraldinne Rauch L, Felipe Benavides G, M Gabriela Repetto . [Rett Syndrome: MECP2 gene molecular analysis in Chilean patients]. Revista chilena de pediatria. vol 90. issue 2. 2019-12-30. PMID:31095231. [rett syndrome: mecp2 gene molecular analysis in chilean patients]. 2019-12-30 2023-08-13 Not clear
Frank J Symons, Chantel C Barney, Breanne J Byiers, Brian D McAdams, Shawn X Y L Foster, Timothy J Feyma, Gwen Wendelschafer-Crabb, William R Kenned. A clinical case-control comparison of epidermal innervation density in Rett syndrome. Brain and behavior. vol 9. issue 5. 2019-12-23. PMID:30980517. rett syndrome (rtt), a rare neurodevelopmental disorder occurring primarily in females (1:10-15,000 female live births), is most often caused by loss-of-function mutations in the x-linked methyl-cpg-binding protein 2 gene (mecp2). 2019-12-23 2023-08-13 Not clear
Anna Gandaglia, Elena Brivio, Sara Carli, Michela Palmieri, Francesco Bedogni, Gilda Stefanelli, Anna Bergo, Barbara Leva, Chiara Cattaneo, Lara Pizzamiglio, Marco Cicerone, Veronica Bianchi, Charlotte Kilstrup-Nielsen, Ilda D'Annessa, Daniele Di Marino, Patrizia D'Adamo, Flavia Antonucci, Angelisa Frasca, Nicoletta Landsberge. A Novel Mecp2 Molecular neurobiology. vol 56. issue 7. 2019-12-20. PMID:30402709. a novel mecp2 mecp2 is a fundamental protein associated with several neurological disorders, including rett syndrome. 2019-12-20 2023-08-13 mouse
Nicole M Fisher, Rocco G Gogliotti, Sheryl Anne D Vermudez, Branden J Stansley, P Jeffrey Conn, Colleen M Niswende. Genetic Reduction or Negative Modulation of mGlu ACS chemical neuroscience. vol 9. issue 9. 2019-12-11. PMID:29227625. genetic reduction or negative modulation of mglu rett syndrome and mecp2 duplication syndrome are neurodevelopmental disorders attributed to loss-of-function mutations in, or duplication of, the gene encoding methyl-cpg-binding protein 2 (mecp2), respectively. 2019-12-11 2023-08-13 Not clear