All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Valerie Matagne, Yann Ehinger, Lydia Saidi, Ana Borges-Correia, Martine Barkats, Marc Bartoli, Laurent Villard, Jean-Christophe Rou. A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome. Neurobiology of disease. vol 99. 2018-02-21. PMID:27974239. a codon-optimized mecp2 transgene corrects breathing deficits and improves survival in a mouse model of rett syndrome. 2018-02-21 2023-08-13 mouse
Valerie Matagne, Yann Ehinger, Lydia Saidi, Ana Borges-Correia, Martine Barkats, Marc Bartoli, Laurent Villard, Jean-Christophe Rou. A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome. Neurobiology of disease. vol 99. 2018-02-21. PMID:27974239. rett syndrome (rtt) is a severe x-linked neurodevelopmental disorder that is primarily caused by mutations in the methyl cpg binding protein 2 gene (mecp2). 2018-02-21 2023-08-13 mouse
Rebekah Tillotson, Jim Selfridge, Martha V Koerner, Kamal K E Gadalla, Jacky Guy, Dina De Sousa, Ralph D Hector, Stuart R Cobb, Adrian Bir. Radically truncated MeCP2 rescues Rett syndrome-like neurological defects. Nature. vol 550. issue 7676. 2018-02-20. PMID:29019980. heterozygous mutations in the x-linked mecp2 gene cause the neurological disorder rett syndrome. 2018-02-20 2023-08-13 mouse
Peng Zhang, Anne K Ludwig, Florian D Hastert, Cathia Rausch, Anne Lehmkuhl, Ines Hellmann, Martha Smets, Heinrich Leonhardt, M Cristina Cardos. L1 retrotransposition is activated by Ten-eleven-translocation protein 1 and repressed by methyl-CpG binding proteins. Nucleus (Austin, Tex.). vol 8. issue 5. 2018-02-14. PMID:28524723. our study reveals a mechanism how l1 elements get activated in the absence of mecp2 and suggests that tet1 may contribute to mecp2/mbd2-deficiency phenotypes, such as the rett syndrome. 2018-02-14 2023-08-13 Not clear
José A Herrera, Christopher S Ward, Xander H T Wehrens, Jeffrey L Neu. Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis. Human molecular genetics. vol 25. issue 22. 2018-02-13. PMID:28159985. sudden unexpected death occurs in one quarter of deaths in rett syndrome (rtt), a neurodevelopmental disorder caused by mutations in methyl-cpg-binding protein 2 (mecp2). 2018-02-13 2023-08-13 mouse
Jay R Shapiro, Adele L Boskey, Stephen B Doty, Lyudmila Lukashova, Mary E Blu. Zoledronic acid improves bone histomorphometry in a murine model of Rett syndrome. Bone. vol 99. 2018-02-12. PMID:28323142. rett syndrome (rtt) is a neurodevelopmental disorder predominately affecting young females, caused by deficiency of the global transcriptional protein methyl cpg binding protein 2 (mecp2). 2018-02-12 2023-08-13 mouse
James C Cronk, Noel C Derecki, Vladimir Litvak, Jonathan Kipni. Unexpected cellular players in Rett syndrome pathology. Neurobiology of disease. vol 92. issue Pt A. 2018-02-05. PMID:25982834. rett syndrome is a devastating neurodevelopmental disorder, primarily caused by mutations of methyl cpg-binding protein 2 (mecp2). 2018-02-05 2023-08-13 mouse
G Wahba, S C Schock, S Cudd, D Grynspan, P Humphreys, W A Staine. Activity and MeCP2-dependent regulation of nNOS levels in enteric neurons. Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society. vol 28. issue 11. 2018-02-05. PMID:27254746. rett syndrome arises predominantly from mutations in mecp2, the gene coding for methyl-cpg-binding protein 2 (mecp2). 2018-02-05 2023-08-13 Not clear
Natasha L Pacheco, Michael R Heaven, Leanne M Holt, David K Crossman, Kristin J Boggio, Scott A Shaffer, Daniel L Flint, Michelle L Olse. RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Molecular autism. vol 8. 2018-02-05. PMID:29090078. rna sequencing and proteomics approaches reveal novel deficits in the cortex of rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator mecp2. 2018-02-05 2023-08-13 Not clear
Caroline M Forrest, Peter G E Kennedy, Jean Rodgers, R Neil Dalton, Charles Turner, L Gail Darlington, Stuart R Cobb, Trevor W Ston. Kynurenine pathway metabolism following prenatal KMO inhibition and in Mecp2 Neurochemistry international. vol 100. 2018-01-31. PMID:27623092. when brains were examined from young mice heterozygous for the mecp2 gene - a potential model for rett syndrome - no differences were noted from control mice, suggesting that the proposed roles for kynurenines in autism spectrum disorder are not relevant to rett syndrome, supporting its recognition as a distinct, independent, condition. 2018-01-31 2023-08-13 mouse
Ameeq Ul Mushtaq, Yejin Lee, Eunha Hwang, Jeong Kyu Bang, Eunmi Hong, Youngjoo Byun, Ji-Joon Song, Young Ho Jeo. Biophysical characterization of the basic cluster in the transcription repression domain of human MeCP2 with AT-rich DNA. Biochemical and biophysical research communications. vol 495. issue 1. 2018-01-05. PMID:29101034. mecp2 is a chromatin associated protein which is highly expressed in brain and relevant with rett syndrome (rtt). 2018-01-05 2023-08-13 human
Susan A Rose, Sam Wass, Jeffery J Jankowski, Judith F Feldman, Aleksandra Djuki. Sustained attention in the face of distractors: A study of children with Rett syndrome. Neuropsychology. vol 31. issue 4. 2018-01-04. PMID:28383972. the object of the present study is to advance our understanding of the cognitive profile of rett syndrome (rtt), an x-linked neurodevelopmental disorder caused by mutations in the mecp2 gene. 2018-01-04 2023-08-13 Not clear
Juan Ausió, Philippe T George. MeCP2 and CTCF: enhancing the cross-talk of silencers. Biochemistry and cell biology = Biochimie et biologie cellulaire. vol 95. issue 6. 2017-12-27. PMID:28796949. this paper provides a brief introductory review of the most recent advances in our knowledge about the structural and functional aspects of two transcriptional regulators: mecp2, a protein whose mutated forms are involved in rett syndrome; and ctcf, a constitutive transcriptional insulator. 2017-12-27 2023-08-13 Not clear
Andreea Nissenkorn, Mona Kidon, Bruria Ben-Zee. A Potential Life-Threatening Reaction to Glatiramer Acetate in Rett Syndrome. Pediatric neurology. vol 68. 2017-12-18. PMID:28254244. rett syndrome is an x-linked dominant neurodevelopmental disorder manifesting with severe intellectual disability in females caused by various mutations in the mecp2 gene. 2017-12-18 2023-08-13 mouse
Vinita Misra Knight, Paul S Horn, Donald L Gilbert, Shannon M Standridg. The Clinical Predictors That Facilitate a Clinician's Decision to Order Genetic Testing for Rett Syndrome. Pediatric neurology. vol 63. 2017-12-13. PMID:27473651. rett syndrome is a common genetic cause of intellectual disability in girls caused by a mutation in the mecp2 gene. 2017-12-13 2023-08-13 Not clear
Anne-Sophie Lambert, Anya Rothenbuhler, Perrine Charles, Sylvie Brailly-Tabard, Séverine Trabado, Elisabeth Célestin, Emmanuel Durand, Isabelle Fontaine, Lotfi Miladi, Philippe Wicart, Nadia Bahi-Buisson, Agnès Linglar. Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility. PloS one. vol 12. issue 10. 2017-12-11. PMID:29073271. classic rett syndrome (rs) is a disabling condition mainly caused by mecp2 mutations. 2017-12-11 2023-08-13 Not clear
Samin A Sajan, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Daniel G Glaze, Walter E Kaufmann, Steven A Skinner, Fran Annese, Michael J Friez, Jane Lane, Alan K Percy, Jeffrey L Neu. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in medicine : official journal of the American College of Medical Genetics. vol 19. issue 1. 2017-12-07. PMID:27171548. enrichment of mutations in chromatin regulators in people with rett syndrome lacking mutations in mecp2. 2017-12-07 2023-08-13 Not clear
Samin A Sajan, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Daniel G Glaze, Walter E Kaufmann, Steven A Skinner, Fran Annese, Michael J Friez, Jane Lane, Alan K Percy, Jeffrey L Neu. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in medicine : official journal of the American College of Medical Genetics. vol 19. issue 1. 2017-12-07. PMID:27171548. rett syndrome (rtt) is a neurodevelopmental disorder caused primarily by de novo mutations in mecp2 and sometimes in cdkl5 and foxg1. 2017-12-07 2023-08-13 Not clear
Alessio Cortelazzo, Thomas Pietri, Claudio De Felice, Silvia Leoncini, Roberto Guerranti, Cinzia Signorini, Anna Maria Timperio, Lello Zolla, Lucia Ciccoli, Joussef Haye. Proteomic analysis of the Rett syndrome experimental model mecp2 Journal of proteomics. vol 154. 2017-12-06. PMID:28062374. proteomic analysis of the rett syndrome experimental model mecp2 rett syndrome (rtt) is a severe genetic disorder resulting from mutations in the x-linked methyl-cpg-binding protein 2 (mecp2) gene. 2017-12-06 2023-08-13 human
Ying Zhang, Shu-Xia Cao, Peng Sun, Hai-Yang He, Ci-Hang Yang, Xiao-Juan Chen, Chen-Jie Shen, Xiao-Dong Wang, Zhong Chen, Darwin K Berg, Shumin Duan, Xiao-Ming L. Loss of MeCP2 in cholinergic neurons causes part of RTT-like phenotypes via α7 receptor in hippocampus. Cell research. vol 26. issue 6. 2017-12-04. PMID:27103432. mutations in the x-linked mecp2 gene cause rett syndrome (rtt), an autism spectrum disorder characterized by impaired social interactions, motor abnormalities, cognitive defects and a high risk of epilepsy. 2017-12-04 2023-08-13 mouse