All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Marcella Vacca, Kumar Parijat Tripathi, Luisa Speranza, Riccardo Aiese Cigliano, Francesco Scalabrì, Federico Marracino, Michele Madonna, Walter Sanseverino, Carla Perrone-Capano, Mario Rosario Guarracino, Maurizio D'Esposit. Effects of Mecp2 loss of function in embryonic cortical neurons: a bioinformatics strategy to sort out non-neuronal cells variability from transcriptome profiling. BMC bioinformatics. vol 17 Suppl 2. 2016-09-14. PMID:26821710. mecp2 null mice model rett syndrome (rtt) a human neurological disorder affecting females after apparent normal pre- and peri-natal developmental periods. 2016-09-14 2023-08-13 mouse
Aparna A Bhanushali, A Mandsaurwala, Bibhu R Da. Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 25. 2016-09-13. PMID:26755454. homozygous c.1160c>t (p38l) in the mecp2 gene in a female rett syndrome patient. 2016-09-13 2023-08-13 Not clear
Aparna A Bhanushali, A Mandsaurwala, Bibhu R Da. Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 25. 2016-09-13. PMID:26755454. mutations in the mecp2 gene on chromosome xq28 have been shown to be the cause of rett syndrome. 2016-09-13 2023-08-13 Not clear
Aparna A Bhanushali, A Mandsaurwala, Bibhu R Da. Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 25. 2016-09-13. PMID:26755454. sequencing of the mecp2 gene in a patient with clinical suspicion of rett syndrome revealed c.1160c>t (p387l) in exon 4 of the mecp2 gene homozygously. 2016-09-13 2023-08-13 Not clear
Aparna A Bhanushali, A Mandsaurwala, Bibhu R Da. Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 25. 2016-09-13. PMID:26755454. females with rett syndrome are usually heterozygous for a mutation in mecp2. 2016-09-13 2023-08-13 Not clear
Carlos Bueno, Rafael Tabares-Seisdedos, Jose M Moraleda, Salvador Martine. Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands. PloS one. vol 11. issue 4. 2016-08-25. PMID:27064487. rett syndrome mutant neural cells lacks mecp2 immunoreactive bands. 2016-08-25 2023-08-13 Not clear
Carlos Bueno, Rafael Tabares-Seisdedos, Jose M Moraleda, Salvador Martine. Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands. PloS one. vol 11. issue 4. 2016-08-25. PMID:27064487. dysfunctions of mecp2 protein lead to various neurological disorders such as rett syndrome and autism. 2016-08-25 2023-08-13 Not clear
Carlos Bueno, Rafael Tabares-Seisdedos, Jose M Moraleda, Salvador Martine. Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands. PloS one. vol 11. issue 4. 2016-08-25. PMID:27064487. some researchers suggest that multiple mecp2 immunoreactive bands are unidentified proteins that cross-react with the mecp2 antibody or degradation product of mecp2, while others suggest that mecp2 post-transcriptional processing generates multiple molecular forms linked to cell signaling, but so far they have not been properly analyzed in relation to rett syndrome experimental models. 2016-08-25 2023-08-13 Not clear
Carlos Bueno, Rafael Tabares-Seisdedos, Jose M Moraleda, Salvador Martine. Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands. PloS one. vol 11. issue 4. 2016-08-25. PMID:27064487. our results clearly indicate that mecp2 antibodies have no cross-reactivity with similar epitopes on others proteins, supporting the idea that mecp2 may exist in multiple different molecular forms and that molecular pattern variations derived from altered post-transcriptional processing may underlay rett syndrome physiophatology. 2016-08-25 2023-08-13 Not clear
Clementina Cobolli Gigli, Linda Scaramuzza, Anna Gandaglia, Elisa Bellini, Marina Gabaglio, Daniela Parolaro, Charlotte Kilstrup-Nielsen, Nicoletta Landsberger, Francesco Bedogn. MeCP2 Related Studies Benefit from the Use of CD1 as Genetic Background. PloS one. vol 11. issue 4. 2016-08-25. PMID:27097329. mecp2 mutations cause a number of neurological disorders of which rett syndrome (rtt) represents the most thoroughly analysed condition. 2016-08-25 2023-08-13 mouse
Lucia Ciccoli, Claudio De Felice, Silvia Leoncini, Cinzia Signorini, Alessio Cortelazzo, Gloria Zollo, Alessandra Pecorelli, Marcello Rossi, Joussef Haye. Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization. Biological chemistry. vol 396. issue 11. 2016-08-17. PMID:26040005. in particular, we focus on morphological changes, membrane oxidative damage, altered membrane fatty acid profile, and aberrant skeletal organization in erythrocytes from patients with typical rett syndrome and mecp2 gene mutations. 2016-08-17 2023-08-13 Not clear
Wei Li, Xin Xu, Lucas Pozzo-Mille. Excitatory synapses are stronger in the hippocampus of Rett syndrome mice due to altered synaptic trafficking of AMPA-type glutamate receptors. Proceedings of the National Academy of Sciences of the United States of America. vol 113. issue 11. 2016-08-12. PMID:26929363. using the methyl-cpg-binding protein 2 (mecp2) knockout (ko) mouse model of rett syndrome, we show that naïve excitatory synapses onto hippocampal pyramidal neurons of symptomatic mice have all of the hallmarks of potentiated synapses. 2016-08-12 2023-08-13 mouse
Marwa Kharrat, Ines Hsairi, Nourhene Fendri-Kriaa, Houda Kenoun, Houda Ben Othmen, Afif Ben Mahmoud, Rania Ghorbel, Imen Abid, Chahnez Triki, Faiza Fakhfak. A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations. Journal of child neurology. vol 30. issue 13. 2016-08-10. PMID:25862735. rett syndrome is a monogenic x-linked dominant neurodevelopmental disorder related to mutation in mecp2, which encodes the methyl-cpg-binding protein mecp2. 2016-08-10 2023-08-13 Not clear
Annette Becker, Peng Zhang, Lena Allmann, Daniela Meilinger, Bianca Bertulat, Daniel Eck, Maria Hofstaetter, Giody Bartolomei, Michael O Hottiger, Valérie Schreiber, Heinrich Leonhardt, M Cristina Cardos. Poly(ADP-ribosyl)ation of Methyl CpG Binding Domain Protein 2 Regulates Chromatin Structure. The Journal of biological chemistry. vol 291. issue 10. 2016-08-03. PMID:26772194. we have shown previously that the mecp2 level increases during differentiation and that it causes large-scale chromatin reorganization, which is disturbed by mecp2 rett syndrome mutations. 2016-08-03 2023-08-13 mouse
K Griesi-Oliveira, A Acab, A R Gupta, D Y Sunaga, T Chailangkarn, X Nicol, Y Nunez, M F Walker, J D Murdoch, S J Sanders, T V Fernandez, W Ji, R P Lifton, E Vadasz, A Dietrich, D Pradhan, H Song, G-L Ming, X Gu, G Haddad, M C N Marchetto, N Spitzer, M R Passos-Bueno, M W State, A R Muotr. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular psychiatry. vol 20. issue 11. 2016-08-02. PMID:25385366. mutations in mecp2 cause rett syndrome, revealing common pathways among asds. 2016-08-02 2023-08-13 mouse
Cinzia Signorini, Claudio De Felice, Silvia Leoncini, Rikke S Møller, Gloria Zollo, Sabrina Buoni, Alessio Cortelazzo, Roberto Guerranti, Thierry Durand, Lucia Ciccoli, Maurizio D'Esposito, Kirstine Ravn, Joussef Haye. MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome. PloS one. vol 11. issue 3. 2016-07-26. PMID:26930212. rett syndrome (rtt) and mecp2 duplication syndrome (mds) are neurodevelopmental disorders caused by alterations in the methyl-cpg binding protein 2 (mecp2) gene expression. 2016-07-26 2023-08-13 human
Stefania Filosa, Alessandra Pecorelli, Maurizio D'Esposito, Giuseppe Valacchi, Joussef Haje. Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome. Free radical biology & medicine. vol 88. issue Pt A. 2016-07-22. PMID:25960047. exploring the possible link between mecp2 and oxidative stress in rett syndrome. 2016-07-22 2023-08-13 mouse
Jenny Downs, Michelle Stahlhut, Kingsley Wong, Birgit Syhler, Anne-Marie Bisgaard, Peter Jacoby, Helen Leonar. Validating the Rett Syndrome Gross Motor Scale. PloS one. vol 11. issue 1. 2016-07-19. PMID:26800272. rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the mecp2 gene. 2016-07-19 2023-08-13 Not clear
Keita Tsujimura, Koichiro Irie, Hideyuki Nakashima, Yoshihiro Egashira, Yoichiro Fukao, Masayuki Fujiwara, Masayuki Itoh, Masahiro Uesaka, Takuya Imamura, Yasukazu Nakahata, Yui Yamashita, Takaya Abe, Shigeo Takamori, Kinichi Nakashim. miR-199a Links MeCP2 with mTOR Signaling and Its Dysregulation Leads to Rett Syndrome Phenotypes. Cell reports. vol 12. issue 11. 2016-07-06. PMID:26344767. mir-199a links mecp2 with mtor signaling and its dysregulation leads to rett syndrome phenotypes. 2016-07-06 2023-08-13 mouse
Keita Tsujimura, Koichiro Irie, Hideyuki Nakashima, Yoshihiro Egashira, Yoichiro Fukao, Masayuki Fujiwara, Masayuki Itoh, Masahiro Uesaka, Takuya Imamura, Yasukazu Nakahata, Yui Yamashita, Takaya Abe, Shigeo Takamori, Kinichi Nakashim. miR-199a Links MeCP2 with mTOR Signaling and Its Dysregulation Leads to Rett Syndrome Phenotypes. Cell reports. vol 12. issue 11. 2016-07-06. PMID:26344767. rett syndrome (rtt) is a neurodevelopmental disorder caused by mecp2 mutations. 2016-07-06 2023-08-13 mouse