| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dino Frankli. P152R Mutation Within MeCP2 Can Cause Loss of DNA-Binding Selectivity. Interdisciplinary sciences, computational life sciences. vol 11. issue 1. 2019-06-25. PMID:30673959. |
mecp2 gene mutations can cause rett syndrome (rtt), a severe neurological disorder that affects around one in ten thousand girls. |
2019-06-25 |
2023-08-13 |
Not clear |
| Madalyn Brown, Paula Ashcraft, Erland Arning, Teodoro Bottiglieri, William McClintock, Frank Giancola, David Lieberman, Natalie S Hauser, Rebecca Miller, Jean-Baptiste Roullet, Phillip Pearl, K Michael Gibso. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Molecular genetics & genomic medicine. vol 7. issue 5. 2019-06-25. PMID:30829465. |
rett syndrome (mecp2) and succinic semialdehyde dehydrogenase (aldh5a1) deficiency in a developmentally delayed female. |
2019-06-25 |
2023-08-13 |
Not clear |
| Madalyn Brown, Paula Ashcraft, Erland Arning, Teodoro Bottiglieri, William McClintock, Frank Giancola, David Lieberman, Natalie S Hauser, Rebecca Miller, Jean-Baptiste Roullet, Phillip Pearl, K Michael Gibso. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Molecular genetics & genomic medicine. vol 7. issue 5. 2019-06-25. PMID:30829465. |
we present a patient with rett syndrome (rtt; mecp2) and autosomal-recessive succinic semialdehyde dehydrogenase deficiency (ssadhd; aldh5a1 (aldehyde dehydrogenase 5a1 = ssadh), in whom the current phenotype exhibits features of ssadhd (hypotonia, global developmental delay) and rtt (hand stereotypies, gait anomalies). |
2019-06-25 |
2023-08-13 |
Not clear |
| James C Cronk, Jasmin Herz, Taeg S Kim, Antoine Louveau, Emily K Moser, Ashish K Sharma, Igor Smirnov, Kenneth S Tung, Thomas J Braciale, Jonathan Kipni. Influenza A induces dysfunctional immunity and death in MeCP2-overexpressing mice. JCI insight. vol 2. issue 2. 2019-06-12. PMID:28138553. |
loss of function or overexpression of methyl-cpg-binding protein 2 (mecp2) results in the severe neurodevelopmental disorders rett syndrome and mecp2 duplication syndrome, respectively. |
2019-06-12 |
2023-08-13 |
mouse |
| Yi Sun, Yu Gao, Joseph J Tidei, Minjie Shen, Johnson T Hoang, Daniel F Wagner, Xinyu Zha. Loss of MeCP2 in immature neurons leads to impaired network integration. Human molecular genetics. vol 28. issue 2. 2019-06-04. PMID:30277526. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations or deletions in methyl-cpg-binding protein 2 (mecp2), a brain-enriched transcriptional regulator. |
2019-06-04 |
2023-08-13 |
Not clear |
| Tadashi Shiohama, Jacob Levman, Emi Takahash. Surface- and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. vol 73. 2019-06-04. PMID:30690146. |
rett syndrome (rtt) is a rare congenital disorder which in most cases (95%) is caused by methyl-cpg binding protein 2 (mecp2) mutations. |
2019-06-04 |
2023-08-13 |
Not clear |
| Susan A Rose, Sam Wass, Jeffery J Jankowski, Judith F Feldman, Aleksandra Djuki. Attentional shifting and disengagement in Rett syndrome. Neuropsychology. vol 33. issue 3. 2019-05-20. PMID:30688490. |
the purpose of the present study was to deepen our understanding of attention (a core cognitive ability) in rett syndrome (rtt), an x-linked neurodevelopmental disorder caused by mutations in the mecp2 gene. |
2019-05-20 |
2023-08-13 |
Not clear |
| Annie Vogel Ciernia, Dag H Yasui, Michael C Pride, Blythe Durbin-Johnson, Adriana B Noronha, Alene Chang, Trina A Knotts, Jennifer R Rutkowsky, Jon J Ramsey, Jacqueline N Crawley, Janine M LaSall. MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome. Human molecular genetics. vol 27. issue 23. 2019-05-16. PMID:30137367. |
mecp2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of rett syndrome. |
2019-05-16 |
2023-08-13 |
mouse |
| Annie Vogel Ciernia, Dag H Yasui, Michael C Pride, Blythe Durbin-Johnson, Adriana B Noronha, Alene Chang, Trina A Knotts, Jennifer R Rutkowsky, Jon J Ramsey, Jacqueline N Crawley, Janine M LaSall. MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome. Human molecular genetics. vol 27. issue 23. 2019-05-16. PMID:30137367. |
mutations in the x-linked gene mecp2 cause the majority of rett syndrome (rtt) cases. |
2019-05-16 |
2023-08-13 |
mouse |
| William Renthal, Lisa D Boxer, Sinisa Hrvatin, Emmy Li, Andrew Silberfeld, M Aurel Nagy, Eric C Griffith, Thomas Vierbuchen, Michael E Greenber. Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing. Nature neuroscience. vol 21. issue 12. 2019-05-16. PMID:30455458. |
we apply this approach to mosaic female mouse models and humans with rett syndrome, an x-linked neurodevelopmental disorder caused by mutations in the gene encoding the methyl-dna-binding protein mecp2, and observe that cell-type-specific dna methylation predicts the degree of gene upregulation in mecp2-mutant neurons. |
2019-05-16 |
2023-08-13 |
mouse |
| Taimoor I Sheikh, Ricardo Harripaul, Muhammad Ayub, John B Vincen. MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro. Human mutation. vol 39. issue 5. 2019-05-13. PMID:29431277. |
mutations in the methyl-cpg-binding protein-2 gene (mecp2) are commonly associated with rett syndrome. |
2019-05-13 |
2023-08-13 |
Not clear |
| Taimoor I Sheikh, Ricardo Harripaul, Muhammad Ayub, John B Vincen. MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro. Human mutation. vol 39. issue 5. 2019-05-13. PMID:29431277. |
here, we report functional analysis of mecp2 missense mutations, located in at-hook1 within the id, in a large pakistani family with childhood onset cognitive decline and schizophrenia (scz), de novo in a girl with atypical rett syndrome, and de novo in a woman with scz. |
2019-05-13 |
2023-08-13 |
Not clear |
| Jin A Yoon, Yongjin Yoo, Je Sang Lee, Young Mi Kim, Yong Beom Shi. An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation. Molecular genetics & genomic medicine. vol 7. issue 3. 2019-05-08. PMID:30569584. |
an early seizure variant type of a male rett syndrome patient with a mecp2 p.arg133his missense mutation. |
2019-05-08 |
2023-08-13 |
Not clear |
| Dieter Lütjohann, Adam M Lopez, Jen-Chieh Chuang, Anja Kerksiek, Stephen D Turle. Identification of Correlative Shifts in Indices of Brain Cholesterol Metabolism in the C57BL6/Mecp2 Lipids. vol 53. issue 4. 2019-04-29. PMID:29770459. |
identification of correlative shifts in indices of brain cholesterol metabolism in the c57bl6/mecp2 rett syndrome (rs) is a pervasive neurodevelopmental disorder resulting from loss-of-function mutations in the x-linked gene methyl-cpg-binding protein 2 (mecp2). |
2019-04-29 |
2023-08-13 |
Not clear |
| Elisa Landucci, Margherita Brindisi, Laura Bianciardi, Lorenza M Catania, Sergio Daga, Susanna Croci, Elisa Frullanti, Chiara Fallerini, Stefania Butini, Simone Brogi, Simone Furini, Riccardo Melani, Angelo Molinaro, Flaminia Clelia Lorenzetti, Valentina Imperatore, Sonia Amabile, Jessica Mariani, Francesca Mari, Francesca Ariani, Tommaso Pizzorusso, Anna Maria Pinto, Flora M Vaccarino, Alessandra Renieri, Giuseppe Campiani, Ilaria Melon. iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome. Experimental cell research. vol 368. issue 2. 2019-04-16. PMID:29730163. |
mutations in mecp2 gene have been identified in more than 95% of patients with classic rett syndrome, one of the most common neurodevelopmental disorders in females. |
2019-04-16 |
2023-08-13 |
Not clear |
| Rocco G Gogliotti, Colleen M Niswende. A Coordinated Attack: Rett Syndrome Therapeutic Development. Trends in pharmacological sciences. vol 40. issue 4. 2019-04-16. PMID:30905360. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the methyl cpg binding protein 2 (mecp2) gene. |
2019-04-16 |
2023-08-13 |
Not clear |
| Huong Le Thi Thanh, Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong, Liem Nguyen Than. Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome. BMC medical genetics. vol 19. issue 1. 2019-04-15. PMID:30081849. |
spectrum of mecp2 mutations in vietnamese patients with rett syndrome. |
2019-04-15 |
2023-08-13 |
Not clear |
| N Mellios, D A Feldman, S D Sheridan, J P K Ip, S Kwok, S K Amoah, B Rosen, B A Rodriguez, B Crawford, R Swaminathan, S Chou, Y Li, M Ziats, C Ernst, R Jaenisch, S J Haggarty, M Su. MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling. Molecular psychiatry. vol 23. issue 4. 2019-04-04. PMID:28439102. |
rett syndrome (rtt) is an x-linked, neurodevelopmental disorder caused primarily by mutations in the methyl-cpg-binding protein 2 (mecp2) gene, which encodes a multifunctional epigenetic regulator with known links to a wide spectrum of neuropsychiatric disorders. |
2019-04-04 |
2023-08-13 |
mouse |
| Jenny Downs, Jenny Rodger, Chen Li, Xuesong Tan, Nan Hu, Kingsley Wong, Nicholas de Klerk, Helen Leonar. Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial. Orphanet journal of rare diseases. vol 13. issue 1. 2019-03-18. PMID:29321033. |
rett syndrome is caused by a pathogenic mutation in the mecp2 gene with major consequences for motor and cognitive development. |
2019-03-18 |
2023-08-13 |
mouse |
| Angus John Clarke, Ana Paula Abdala Sheik. A perspective on "cure" for Rett syndrome. Orphanet journal of rare diseases. vol 13. issue 1. 2019-03-14. PMID:29609636. |
the reversal of the rett syndrome disease process in the mecp2 mouse model of guy et al. |
2019-03-14 |
2023-08-13 |
mouse |