| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Sarah E Sinnett, Steven J Gra. Recent endeavors in MECP2 gene transfer for gene therapy of Rett syndrome. Discovery medicine. vol 24. issue 132. 2018-09-27. PMID:29272692. |
rett syndrome (rtt) is an x chromosome-linked neurodevelopmental disorder caused by inactivating mutations in the transcription regulator methyl cpg-binding protein 2 (mecp2). |
2018-09-27 |
2023-08-13 |
mouse |
| Meenakshi Lallar, Archana Rai, Priyanka Srivastava, Kausik Mandal, Neerja Gupta, Madhulika Kabra, Shubha R Phadk. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls. Indian pediatrics. vol 55. issue 6. 2018-09-26. PMID:29428920. |
molecular testing of mecp2 gene in rett syndrome phenotypes in indian girls. |
2018-09-26 |
2023-08-13 |
Not clear |
| Meenakshi Lallar, Archana Rai, Priyanka Srivastava, Kausik Mandal, Neerja Gupta, Madhulika Kabra, Shubha R Phadk. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls. Indian pediatrics. vol 55. issue 6. 2018-09-26. PMID:29428920. |
to assess yield of mecp2 gene sequence variations analysis and large deletions in suspected cases of rett syndrome. |
2018-09-26 |
2023-08-13 |
Not clear |
| Lieselot L G Carrette, Roy Blum, Weiyuan Ma, Raymond J Kelleher, Jeannie T Le. Tsix-Mecp2 female mouse model for Rett syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function. Proceedings of the National Academy of Sciences of the United States of America. vol 115. issue 32. 2018-09-20. PMID:30038001. |
tsix-mecp2 female mouse model for rett syndrome reveals that low-level mecp2 expression extends life and improves neuromotor function. |
2018-09-20 |
2023-08-13 |
mouse |
| Lieselot L G Carrette, Roy Blum, Weiyuan Ma, Raymond J Kelleher, Jeannie T Le. Tsix-Mecp2 female mouse model for Rett syndrome reveals that low-level MECP2 expression extends life and improves neuromotor function. Proceedings of the National Academy of Sciences of the United States of America. vol 115. issue 32. 2018-09-20. PMID:30038001. |
rett syndrome (rtt) is a severe neurodevelopmental disorder caused by a mutation in the x-linked methyl-cpg-binding protein 2 (mecp2). |
2018-09-20 |
2023-08-13 |
mouse |
| Keita Tsujimura, Kinichi Nakashim. [Novel function of MeCP2 in the pathophysiology of Rett syndrome: Regulation of mTOR signaling mediated by MeCP2-dependent microRNA processing]. Seikagaku. The Journal of Japanese Biochemical Society. vol 89. issue 1. 2018-09-19. PMID:29624958. |
[novel function of mecp2 in the pathophysiology of rett syndrome: regulation of mtor signaling mediated by mecp2-dependent microrna processing]. |
2018-09-19 |
2023-08-13 |
Not clear |
| Kedarlal Sharma, Juhi Singh, Emma E Frost, Prakash P Pilla. MeCP2 in central nervous system glial cells: current updates. Acta neurobiologiae experimentalis. vol 78. issue 1. 2018-09-18. PMID:29694339. |
mecp2 mutations have been linked to rett syndrome, a neurodevelopmental disorder characterized by severe intellectual disability in females. |
2018-09-18 |
2023-08-13 |
Not clear |
| Kedarlal Sharma, Juhi Singh, Emma E Frost, Prakash P Pilla. MeCP2 in central nervous system glial cells: current updates. Acta neurobiologiae experimentalis. vol 78. issue 1. 2018-09-18. PMID:29694339. |
earlier studies indicated that loss of mecp2 function in neuronal cells was the sole cause of rett syndrome. |
2018-09-18 |
2023-08-13 |
Not clear |
| Kedarlal Sharma, Juhi Singh, Emma E Frost, Prakash P Pilla. MeCP2 in central nervous system glial cells: current updates. Acta neurobiologiae experimentalis. vol 78. issue 1. 2018-09-18. PMID:29694339. |
subsequent studies have linked mecp2 expression in cns glial cells to rett syndrome pathogenesis. |
2018-09-18 |
2023-08-13 |
Not clear |
| Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuish. A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl. Brain & development. vol 40. issue 6. 2018-09-13. PMID:29544889. |
rett syndrome (rtt) is a neurodevelopmental disorder mostly caused by mutations in methyl-cpg-binding protein 2 (mecp2); however, mutations in various other genes may lead to rtt-like phenotypes. |
2018-09-13 |
2023-08-13 |
Not clear |
| Benjamin Rakela, Paul Brehm, Gail Mande. Astrocytic modulation of excitatory synaptic signaling in a mouse model of Rett syndrome. eLife. vol 7. 2018-08-30. PMID:29313799. |
studies linking mutations in methyl cpg binding protein 2 (mecp2) to physiological defects in the neurological disease, rett syndrome, have focused largely upon neuronal dysfunction despite mecp2 ubiquitous expression. |
2018-08-30 |
2023-08-13 |
mouse |
| Francesco Strati, Antonio Calabrò, Claudio Donati, Claudio De Felice, Joussef Hayek, Olivier Jousson, Silvia Leoncini, Daniela Renzi, Lisa Rizzetto, Carlotta De Filippo, Duccio Cavalier. Intestinal Candida parapsilosis isolates from Rett syndrome subjects bear potential virulent traits and capacity to persist within the host. BMC gastroenterology. vol 18. issue 1. 2018-08-23. PMID:29720131. |
rett syndrome (rtt) is a neurological disorder mainly caused by mutations in mecp2 gene. |
2018-08-23 |
2023-08-13 |
human |
| Venugopal S Vineeth, Usha R Dutta, Karthik Tallapaka, Aneek Das Bhowmik, Ashwin Dala. Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures. Gene. vol 673. 2018-08-20. PMID:29920362. |
apart from mecp2, pathogenic sequence variants and copy number variants of foxg1 gene lead to congenital type of rett syndrome which is a more severe form and characterised by absence of early normal development as seen in classical rett syndrome. |
2018-08-20 |
2023-08-13 |
Not clear |
| Makoto Horiuchi, Lucas Smith, Izumi Maezawa, Lee-Way Ji. CX Brain, behavior, and immunity. vol 60. 2018-08-16. PMID:26883520. |
cx rett syndrome (rtt) is a neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding mecp2, an epigenetic modulator that binds the methyl cpg dinucleotide in target genes to regulate transcription. |
2018-08-16 |
2023-08-13 |
mouse |
| Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Porte. Asperger syndrome and early-onset schizophrenia associated with a novel MECP2 deleterious missense variant. Psychiatric genetics. vol 27. issue 3. 2018-08-06. PMID:28230711. |
methyl-cpg-binding protein 2 (mecp2) deleterious variants, which are responsible for rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. |
2018-08-06 |
2023-08-13 |
Not clear |
| Ilda D'Annessa, Anna Gandaglia, Elena Brivio, Gilda Stefanelli, Angelisa Frasca, Nicoletta Landsberger, Daniele Di Marin. Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation. Biochimica et biophysica acta. General subjects. vol 1862. issue 5. 2018-07-09. PMID:29428602. |
tyr120asp mutation alters domain flexibility and dynamics of mecp2 dna binding domain leading to impaired dna interaction: atomistic characterization of a rett syndrome causing mutation. |
2018-07-09 |
2023-08-13 |
Not clear |
| Ilda D'Annessa, Anna Gandaglia, Elena Brivio, Gilda Stefanelli, Angelisa Frasca, Nicoletta Landsberger, Daniele Di Marin. Tyr120Asp mutation alters domain flexibility and dynamics of MeCP2 DNA binding domain leading to impaired DNA interaction: Atomistic characterization of a Rett syndrome causing mutation. Biochimica et biophysica acta. General subjects. vol 1862. issue 5. 2018-07-09. PMID:29428602. |
mutations in the x-linked mecp2 gene represent the main origin of rett syndrome, causing a profound intellectual disability in females. |
2018-07-09 |
2023-08-13 |
Not clear |
| Chao-Yin Chen, Jacopo Di Lucente, Yen-Chu Lin, Cheng-Chang Lien, Michael A Rogawski, Izumi Maezawa, Lee-Way Ji. Defective GABAergic neurotransmission in the nucleus tractus solitarius in Mecp2-null mice, a model of Rett syndrome. Neurobiology of disease. vol 109. issue Pt A. 2018-06-25. PMID:28927958. |
rett syndrome (rtt) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the x-linked methyl-cpg binding protein 2 (mecp2) gene. |
2018-06-25 |
2023-08-13 |
mouse |
| John R Sinnamon, Susan Y Kim, Glen M Corson, Zhen Song, Hiroyuki Nakai, John P Adelman, Gail Mande. Site-directed RNA repair of endogenous Mecp2 RNA in neurons. Proceedings of the National Academy of Sciences of the United States of America. vol 114. issue 44. 2018-06-18. PMID:29078406. |
rett syndrome (rtt) is a debilitating neurological disorder caused by mutations in the gene encoding the transcription factor methyl cpg binding protein 2 (mecp2). |
2018-06-18 |
2023-08-13 |
Not clear |
| Taimoor I Sheikh, Juan Ausió, Hannah Faghfoury, Josh Silver, Jane B Lane, James H Eubanks, Patrick MacLeod, Alan K Percy, John B Vincen. From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2. Scientific reports. vol 6. 2018-06-06. PMID:27929079. |
mutations in the mecp2 gene cause rett syndrome (rtt). |
2018-06-06 |
2023-08-13 |
Not clear |