Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Huanhuan Zhou, Wei Wu, Ying Zhang, Haiyang He, Zhefeng Yuan, Zhiwei Zhu, Zhengyan Zha. Selective preservation of cholinergic MeCP2 rescues specific Rett-syndrome-like phenotypes in MeCP2 Behavioural brain research. vol 322. issue Pt A. 2017-12-01. PMID:28093257. |
typical rett syndrome (rtt) is predominantly caused by mutations in x-linked mecp2 gene which encodes methyl-cpg-binding protein 2 (mecp2). |
2017-12-01 |
2023-08-13 |
mouse |
Jane Crosson, Siddharth Srivastava, Genila M Bibat, Siddharth Gupta, Aditi Kantipuly, Constance Smith-Hicks, Scott M Myers, Abanti Sanyal, Gayane Yenokyan, Joel Brenner, Sakkubai R Naid. Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. American journal of medical genetics. Part A. vol 173. issue 6. 2017-12-01. PMID:28394409. |
rett syndrome (rtt) is caused by mecp2 mutations, resulting in various neurological symptoms. |
2017-12-01 |
2023-08-13 |
Not clear |
Lisa Hunihan, Jeffrey Brown, Angela Cacace, Alda Fernandes, Andrea Westo. Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line. Stem cell research. vol 20. 2017-11-22. PMID:28395743. |
generation of a clonal induced pluripotent stem cell (ipsc) line expressing the mutant mecp2 allele from a rett syndrome patient fibroblast line. |
2017-11-22 |
2023-08-13 |
human |
Lisa Hunihan, Jeffrey Brown, Angela Cacace, Alda Fernandes, Andrea Westo. Generation of a clonal induced pluripotent stem cell (iPSC) line expressing the mutant MECP2 allele from a Rett Syndrome patient fibroblast line. Stem cell research. vol 20. 2017-11-22. PMID:28395743. |
human fibroblast cells collected from a 3-year old, female rett syndrome patient with a 32bp deletion in the x-linked mecp2 gene were obtained from the coriell institute. |
2017-11-22 |
2023-08-13 |
human |
Myungsik Yoo, Cassiano Carromeu, Ohyoon Kwon, Alysson Muotri, Melitta Schachne. The L1 adhesion molecule normalizes neuritogenesis in Rett syndrome-derived neural precursor cells. Biochemical and biophysical research communications. vol 494. issue 3-4. 2017-11-22. PMID:29050935. |
therapeutic intervention is an important need in ameliorating the severe consequences of rett syndrome (rtt), a neurological disorder caused by mutations in the x-linked gene methyl-cpg-binding protein-2 (mecp2). |
2017-11-22 |
2023-08-13 |
Not clear |
Floriana Della Ragione, Marcella Vacca, Salvatore Fioriniello, Giuseppe Pepe, Maurizio D'Esposit. MECP2, a multi-talented modulator of chromatin architecture. Briefings in functional genomics. vol 15. issue 6. 2017-11-21. PMID:27296483. |
for all of these aspects, rett syndrome, which is caused by mecp2 mutations, is considered a paradigmatic example of a 'chromatin disorder'. |
2017-11-21 |
2023-08-13 |
Not clear |
P J Santosh, L Bell, K Lievesley, J Singh, F Fior. Paradoxical physiological responses to propranolol in a Rett syndrome patient: a case report. BMC pediatrics. vol 16. issue 1. 2017-11-20. PMID:27899087. |
rett syndrome (rtt), caused by a loss-of-function in the epigenetic modulator: x-linked methyl-cpg binding protein 2 (mecp2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. |
2017-11-20 |
2023-08-13 |
Not clear |
Weiwei Zhong, Christopher M Johnson, Ningren Cui, Max F Oginsky, Yang Wu, Chun Jian. Effects of early-life exposure to THIP on brainstem neuronal excitability in the Mecp2-null mouse model of Rett syndrome before and after drug withdrawal. Physiological reports. vol 5. issue 2. 2017-11-20. PMID:28108647. |
rett syndrome (rtt) is mostly caused by mutations of the x-linked mecp2 gene. |
2017-11-20 |
2023-08-13 |
mouse |
Friederike Ehrhart, Susan L M Coort, Elisa Cirillo, Eric Smeets, Chris T Evelo, Leopold M G Curf. Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes. Orphanet journal of rare diseases. vol 11. issue 1. 2017-11-07. PMID:27884167. |
rett syndrome - biological pathways leading from mecp2 to disorder phenotypes. |
2017-11-07 |
2023-08-13 |
Not clear |
Kerstin Ure, Hui Lu, Wei Wang, Aya Ito-Ishida, Zhenyu Wu, Ling-Jie He, Yehezkel Sztainberg, Wu Chen, Jianrong Tang, Huda Y Zoghb. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. eLife. vol 5. 2017-11-06. PMID:27328321. |
restoration of mecp2 expression in gabaergic neurons is sufficient to rescue multiple disease features in a mouse model of rett syndrome. |
2017-11-06 |
2023-08-13 |
mouse |
Kerstin Ure, Hui Lu, Wei Wang, Aya Ito-Ishida, Zhenyu Wu, Ling-Jie He, Yehezkel Sztainberg, Wu Chen, Jianrong Tang, Huda Y Zoghb. Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. eLife. vol 5. 2017-11-06. PMID:27328321. |
the postnatal neurodevelopmental disorder rett syndrome, caused by mutations in mecp2, produces a diverse array of symptoms, including loss of language, motor, and social skills and the development of hand stereotypies, anxiety, tremor, ataxia, respiratory dysrhythmias, and seizures. |
2017-11-06 |
2023-08-13 |
mouse |
Xiangling Meng, Wei Wang, Hui Lu, Ling-Jie He, Wu Chen, Eugene S Chao, Marta L Fiorotto, Bin Tang, Jose A Herrera, Michelle L Seymour, Jeffrey L Neul, Fred A Pereira, Jianrong Tang, Mingshan Xue, Huda Y Zoghb. Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders. eLife. vol 5. 2017-11-06. PMID:27328325. |
although mouse models of rett syndrome (rtt), a postnatal neurological disorder caused by loss-of-function mutations in mecp2, display impaired excitatory neurotransmission, the rtt phenotype can be largely reproduced in mice simply by removing mecp2 from inhibitory gabaergic neurons. |
2017-11-06 |
2023-08-13 |
mouse |
Omri David Soffer, Richard Sidlo. A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy. American journal of medical genetics. Part A. vol 170. issue 7. 2017-10-23. PMID:27090848. |
specific mutations in mecp2 cause rett syndrome (rtt) in females whereas other mutations in the same gene cause several other syndromes in males, including x-linked intellectual disability (with and without spasticity) (omim 300055) and x-linked intellectual disability due to increased dosage of mecp2 (omim 300260). |
2017-10-23 |
2023-08-13 |
Not clear |
Sharolin Boban, Kingsley Wong, Amy Epstein, Barbara Anderson, Nada Murphy, Jenny Downs, Helen Leonar. Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype. American journal of medical genetics. Part A. vol 170. issue 9. 2017-10-19. PMID:27255190. |
rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl cpg binding protein 2 (mecp2) gene. |
2017-10-19 |
2023-08-13 |
Not clear |
Sharolin Boban, Kingsley Wong, Amy Epstein, Barbara Anderson, Nada Murphy, Jenny Downs, Helen Leonar. Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype. American journal of medical genetics. Part A. vol 170. issue 9. 2017-10-19. PMID:27255190. |
families with a child with a confirmed rett syndrome diagnosis and a mecp2 mutation registered in the international rett syndrome phenotype database (interrett) were invited to participate. |
2017-10-19 |
2023-08-13 |
Not clear |
Sharolin Boban, Kingsley Wong, Amy Epstein, Barbara Anderson, Nada Murphy, Jenny Downs, Helen Leonar. Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype. American journal of medical genetics. Part A. vol 170. issue 9. 2017-10-19. PMID:27255190. |
these findings highlight the complexities of aberrant mecp2 function in rett syndrome and explain some of the variation in manifestation of sleep disturbances. |
2017-10-19 |
2023-08-13 |
Not clear |
Elisa S Na, Héctor De Jesús-Cortés, Arlene Martinez-Rivera, Zeeba D Kabir, Jieqi Wang, Vijayashree Ramesh, Yasemin Onder, Anjali M Rajadhyaksha, Lisa M Monteggia, Andrew A Piepe. D-cycloserine improves synaptic transmission in an animal model of Rett syndrome. PloS one. vol 12. issue 8. 2017-10-18. PMID:28813484. |
rett syndrome (rtt), a leading cause of intellectual disability in girls, is predominantly caused by mutations in the x-linked gene mecp2. |
2017-10-18 |
2023-08-13 |
mouse |
Brian S Johnson, Ying-Tao Zhao, Maria Fasolino, Janine M Lamonica, Yoon Jung Kim, George Georgakilas, Kathleen H Wood, Daniel Bu, Yue Cui, Darren Goffin, Golnaz Vahedi, Tae Hoon Kim, Zhaolan Zho. Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome. Nature medicine. vol 23. issue 10. 2017-10-16. PMID:28920956. |
biotin tagging of mecp2 in mice reveals contextual insights into the rett syndrome transcriptome. |
2017-10-16 |
2023-08-13 |
mouse |
Brian S Johnson, Ying-Tao Zhao, Maria Fasolino, Janine M Lamonica, Yoon Jung Kim, George Georgakilas, Kathleen H Wood, Daniel Bu, Yue Cui, Darren Goffin, Golnaz Vahedi, Tae Hoon Kim, Zhaolan Zho. Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome. Nature medicine. vol 23. issue 10. 2017-10-16. PMID:28920956. |
mutations in mecp2 cause rett syndrome (rtt), an x-linked neurological disorder characterized by regressive loss of neurodevelopmental milestones and acquired psychomotor deficits. |
2017-10-16 |
2023-08-13 |
mouse |
Annie Vogel Ciernia, Michael C Pride, Blythe Durbin-Johnson, Adriana Noronha, Alene Chang, Dag H Yasui, Jacqueline N Crawley, Janine M LaSall. Early motor phenotype detection in a female mouse model of Rett syndrome is improved by cross-fostering. Human molecular genetics. vol 26. issue 10. 2017-10-10. PMID:28334953. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused by mutations in the gene encoding methyl cpg binding protein 2 (mecp2) that occur sporadically in 1:10,000 female births. |
2017-10-10 |
2023-08-13 |
mouse |