| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hiart Maortua, Cristina Martínez-Bouzas, Ainhoa García-Ribes, María-Jesus Martínez, Encarna Guillen, María-Rosario Domingo, María-Teresa Calvo, Miriam Guitart, Elisabeth Gabau, María-Pilar Botella, Blanca Gener, Izaskun Rubio, María-Asunción López-Aríztegui, María-Isabel Tejad. MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males). The Journal of molecular diagnostics : JMD. vol 15. issue 5. 2014-04-08. PMID:23810759. |
in conclusion, i) mecp2 is one of the most important genes in the diagnosis of genetic intellectual disability in females; ii) mecp2 must be studied not only in patients with classical/atypical rett syndrome but also in patients with other phenotypes related to rett syndrome; and iii) for the new variants, it is important to perform complementary studies, including the analysis of large populations of healthy individuals and the use of in silico programs. |
2014-04-08 |
2023-08-12 |
Not clear |
| Wen Zhang, Matthew Peterson, Barbara Beyer, Wayne N Frankel, Zhong-wei Zhan. Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 34. issue 7. 2014-04-02. PMID:24523563. |
mutations of mecp2 cause rett syndrome (rtt), a neurodevelopmental disorder leading to loss of motor and cognitive functions, impaired social interactions, and seizure at young ages. |
2014-04-02 |
2023-08-12 |
mouse |
| Vincent des Porte. X-linked mental deficiency. Handbook of clinical neurology. vol 111. 2014-04-01. PMID:23622180. |
two genes, arx (x-lag; partington syndrome) and mecp2 (rett syndrome in females; mild mr with spastic diplegia/psychotic problems in males) are associated with various phenotypes, according to the mutation involved. |
2014-04-01 |
2023-08-12 |
Not clear |
| Paolo Petazzi, Juan Sandoval, Karolina Szczesna, Olga C Jorge, Laura Roa, Sergi Sayols, Antonio Gomez, Dori Huertas, Manel Estelle. Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model. RNA biology. vol 10. issue 7. 2014-03-26. PMID:23611944. |
mecp2 is a transcriptional repressor protein that is mutated in rett syndrome, a neurodevelopmental disorder that is the second most common cause of mental retardation in women. |
2014-03-26 |
2023-08-12 |
mouse |
| Paolo Petazzi, Juan Sandoval, Karolina Szczesna, Olga C Jorge, Laura Roa, Sergi Sayols, Antonio Gomez, Dori Huertas, Manel Estelle. Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model. RNA biology. vol 10. issue 7. 2014-03-26. PMID:23611944. |
it has been shown that the loss of the mecp2 protein in rett syndrome cells alters the transcriptional silencing of coding genes and micrornas. |
2014-03-26 |
2023-08-12 |
mouse |
| Paolo Petazzi, Juan Sandoval, Karolina Szczesna, Olga C Jorge, Laura Roa, Sergi Sayols, Antonio Gomez, Dori Huertas, Manel Estelle. Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model. RNA biology. vol 10. issue 7. 2014-03-26. PMID:23611944. |
herein, we have studied the impact of mecp2 impairment in a rett syndrome mouse model on the global transcriptional patterns of long non-coding rnas (lncrnas). |
2014-03-26 |
2023-08-12 |
mouse |
| Paolo Petazzi, Juan Sandoval, Karolina Szczesna, Olga C Jorge, Laura Roa, Sergi Sayols, Antonio Gomez, Dori Huertas, Manel Estelle. Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model. RNA biology. vol 10. issue 7. 2014-03-26. PMID:23611944. |
chromatin immunoprecipitation demonstrated the mecp2 occupancy in the 5'-end genomic loci of the described lncrnas and its absence in rett syndrome mice. |
2014-03-26 |
2023-08-12 |
mouse |
| Paolo Petazzi, Juan Sandoval, Karolina Szczesna, Olga C Jorge, Laura Roa, Sergi Sayols, Antonio Gomez, Dori Huertas, Manel Estelle. Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model. RNA biology. vol 10. issue 7. 2014-03-26. PMID:23611944. |
overall, our findings indicate that the transcriptional dysregulation of lncrnas upon mecp2 loss contributes to the neurological phenotype of rett syndrome and highlights the complex interaction between ncrnas and coding-rnas. |
2014-03-26 |
2023-08-12 |
mouse |
| Xin Xu, Alan P Kozikowski, Lucas Pozzo-Mille. A selective histone deacetylase-6 inhibitor improves BDNF trafficking in hippocampal neurons from Mecp2 knockout mice: implications for Rett syndrome. Frontiers in cellular neuroscience. vol 8. 2014-03-18. PMID:24639629. |
a selective histone deacetylase-6 inhibitor improves bdnf trafficking in hippocampal neurons from mecp2 knockout mice: implications for rett syndrome. |
2014-03-18 |
2023-08-12 |
mouse |
| Xin Xu, Alan P Kozikowski, Lucas Pozzo-Mille. A selective histone deacetylase-6 inhibitor improves BDNF trafficking in hippocampal neurons from Mecp2 knockout mice: implications for Rett syndrome. Frontiers in cellular neuroscience. vol 8. 2014-03-18. PMID:24639629. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by loss-of-function mutations in the transcriptional modulator methyl-cpg-binding protein 2 (mecp2). |
2014-03-18 |
2023-08-12 |
mouse |
| Chikako Waga, Hirotsugu Asano, Tomomi Sanagi, Eri Suzuki, Yasuko Nakamura, Akiko Tsuchiya, Masayuki Itoh, Yu-ichi Goto, Shinichi Kohsaka, Shigeo Uchin. Identification of two novel Shank3 transcripts in the developing mouse neocortex. Journal of neurochemistry. vol 128. issue 2. 2014-03-07. PMID:24164323. |
mecp2 is a transcriptional regulator that has been identified as the causative molecule of rett syndrome, a neurodevelopmental disorder that includes autistic behavior. |
2014-03-07 |
2023-08-12 |
mouse |
| Chikako Waga, Hirotsugu Asano, Tomomi Sanagi, Eri Suzuki, Yasuko Nakamura, Akiko Tsuchiya, Masayuki Itoh, Yu-ichi Goto, Shinichi Kohsaka, Shigeo Uchin. Identification of two novel Shank3 transcripts in the developing mouse neocortex. Journal of neurochemistry. vol 128. issue 2. 2014-03-07. PMID:24164323. |
we here identified two different amino-terminus truncated shank3 transcripts, shank3c-3 and shank3c-4, expressed from the intron 10 of the shank3 gene, and also suggested the epigenetic regulation of their expression via methyl cpg-binding protein 2 (mecp2) that has been identified as the causative molecule of rett syndrome. |
2014-03-07 |
2023-08-12 |
mouse |
| Minghui Jiang, Ryan T Ash, Steven A Baker, Bernhard Suter, Andrew Ferguson, Jiyoung Park, Jessica Rudy, Sergey P Torsky, Hsiao-Tuan Chao, Huda Y Zoghbi, Stelios M Smirnaki. Dendritic arborization and spine dynamics are abnormal in the mouse model of MECP2 duplication syndrome. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 33. issue 50. 2014-03-07. PMID:24336718. |
loss of mecp2 function causes rett syndrome and results in abnormal dendritic spine morphology and decreased pyramidal dendritic arbor complexity and spine density. |
2014-03-07 |
2023-08-12 |
mouse |
| Volney Sheen, Isaac M Valencia, Alcy R Torre. Atypical features in MECP2 P152R-associated Rett syndrome. Pediatric neurology. vol 49. issue 2. 2014-02-26. PMID:23859859. |
atypical features in mecp2 p152r-associated rett syndrome. |
2014-02-26 |
2023-08-12 |
Not clear |
| Lara Kaddoum, Nicolas Panayotis, Honoré Mazarguil, Giuseppina Giglia-Mari, Jean Christophe Roux, Etienne Jol. Isoform-specific anti-MeCP2 antibodies confirm that expression of the e1 isoform strongly predominates in the brain. F1000Research. vol 2. 2014-02-20. PMID:24555100. |
rett syndrome is a neurological disorder caused by mutations in the mecp2 gene. |
2014-02-20 |
2023-08-12 |
mouse |
| Gabriele Baj, Angela Patrizio, Alberto Montalbano, Marina Sciancalepore, Enrico Tongiorg. Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro. Frontiers in cellular neuroscience. vol 8. 2014-02-19. PMID:24550777. |
rett syndrome (rtt) is a neurodevelopmental disorder associated with intellectual disability, mainly caused by loss-of-function mutations in the mecp2 gene. |
2014-02-19 |
2023-08-12 |
mouse |
| Christopher A Chapleau, Jane Lane, Susan M Kirwin, Carolyn Schanen, Kathy M B Vinette, Danielle Stubbolo, Patrick MacLeod, Daniel G Glaze, Kathleen J Motil, Jeffrey L Neul, Steven A Skinner, Walter E Kaufmann, Alan K Perc. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. American journal of medical genetics. Part A. vol 161A. issue 7. 2014-02-14. PMID:23696494. |
detection of rarely identified multiple mutations in mecp2 gene do not contribute to enhanced severity in rett syndrome. |
2014-02-14 |
2023-08-12 |
human |
| Christopher A Chapleau, Jane Lane, Susan M Kirwin, Carolyn Schanen, Kathy M B Vinette, Danielle Stubbolo, Patrick MacLeod, Daniel G Glaze, Kathleen J Motil, Jeffrey L Neul, Steven A Skinner, Walter E Kaufmann, Alan K Perc. Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome. American journal of medical genetics. Part A. vol 161A. issue 7. 2014-02-14. PMID:23696494. |
the objective of our study was to characterize the influence of multiple mutations in the mecp2 gene in a cohort of individuals with rett syndrome. |
2014-02-14 |
2023-08-12 |
human |
| Minh Vu Chuong Nguyen, Christy A Felice, Fang Du, Matthew V Covey, John K Robinson, Gail Mandel, Nurit Balla. Oligodendrocyte lineage cells contribute unique features to Rett syndrome neuropathology. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 33. issue 48. 2014-01-28. PMID:24285883. |
mutations in the methyl-cpg binding protein 2 gene, mecp2, affect primarily the brain and lead to a wide range of neuropsychiatric disorders, most commonly rett syndrome (rtt). |
2014-01-28 |
2023-08-12 |
mouse |
| S G Vorsanova, I Iu Iurov, V Iu Voinova, O S Kurinnaia, M A Zelenova, I A Demidova, E V Ulas, Iu B Iuro. [Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 113. issue 10. 2014-01-23. PMID:24300809. |
[subchromosomal microdeletion identified by molecular karyotyping using dna microarrays (array cgh) in rett syndrome girls negative for mecp2 gene mutations]. |
2014-01-23 |
2023-08-12 |
Not clear |