| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dhanjit Kumar Das, Bhakti Mehta, Shyla R Menon, Sarbani Raha, Vrajesh Udan. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular medicine. vol 15. issue 1. 2013-08-29. PMID:23242510. |
we have screened the cdkl5 gene in 44 patients with atypical rett syndrome who had tested negative for mecp2 gene mutations and have identified 6 sequence variants, out of which three were novel and three known mutations. |
2013-08-29 |
2023-08-12 |
Not clear |
| Peter B Marschik, Walter E Kaufmann, Jeff Sigafoos, Thomas Wolin, Dajie Zhang, Katrin D Bartl-Pokorny, Giorgio Pini, Michele Zappella, Helen Tager-Flusberg, Christa Einspieler, Michael V Johnsto. Changing the perspective on early development of Rett syndrome. Research in developmental disabilities. vol 34. issue 4. 2013-08-27. PMID:23400005. |
we delineated the achievement of early speech-language milestones in 15 young children with rett syndrome (mecp2 positive) in the first two years of life using retrospective video analysis. |
2013-08-27 |
2023-08-12 |
Not clear |
| Elisa Grillo, Caterina Lo Rizzo, Laura Bianciardi, Veronica Bizzarri, Margherita Baldassarri, Ottavia Spiga, Simone Furini, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Lucia Ciccoli, Maria Antonietta Mencarelli, Joussef Hayek, Ilaria Meloni, Francesca Ariani, Francesca Mari, Alessandra Renier. Revealing the complexity of a monogenic disease: rett syndrome exome sequencing. PloS one. vol 8. issue 2. 2013-08-23. PMID:23468869. |
although each pair of sisters had the same mecp2 (omim*300005) mutation and balanced x-inactivation, one individual from each pair could not speak or walk, and had a profound intellectual deficit (classical rett syndrome), while the other individual could speak and walk, and had a moderate intellectual disability (zappella variant). |
2013-08-23 |
2023-08-12 |
Not clear |
| Marie A Toward, Ana P Abdala, Sharon J Knopp, Julian F R Paton, John M Bissonnett. Increasing brain serotonin corrects CO2 chemosensitivity in methyl-CpG-binding protein 2 (Mecp2)-deficient mice. Experimental physiology. vol 98. issue 3. 2013-08-22. PMID:23180809. |
mice deficient in the transcription factor methyl-cpg-binding protein 2 (mecp2), a mouse model of rett syndrome, display reduced co2 chemosensitivity, which may contribute to their breathing abnormalities. |
2013-08-22 |
2023-08-12 |
mouse |
| Marie A Toward, Ana P Abdala, Sharon J Knopp, Julian F R Paton, John M Bissonnett. Increasing brain serotonin corrects CO2 chemosensitivity in methyl-CpG-binding protein 2 (Mecp2)-deficient mice. Experimental physiology. vol 98. issue 3. 2013-08-22. PMID:23180809. |
in addition, patients with rett syndrome and male mice that are null for mecp2 show reduced levels of brain serotonin (5-ht). |
2013-08-22 |
2023-08-12 |
mouse |
| Valerie Matagne, Sarojini Budden, Sergio R Ojeda, Jacob Rabe. Correcting deregulated Fxyd1 expression ameliorates a behavioral impairment in a mouse model of Rett syndrome. Brain research. vol 1496. 2013-08-12. PMID:23246925. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder caused by mutations in the mecp2. |
2013-08-12 |
2023-08-12 |
mouse |
| Garry T Morgan, Peter Jones, Michel Bellin. Association of modified cytosines and the methylated DNA-binding protein MeCP2 with distinctive structural domains of lampbrush chromatin. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology. vol 20. issue 8. 2013-07-26. PMID:23149574. |
expression in oocytes of deleted constructs and of point mutants derived from rett syndrome patients demonstrated that the association of mecp2 with lbcs was determined by its 5mc-binding domain. |
2013-07-26 |
2023-08-12 |
xenopus_laevis |
| F McLeod, R Ganley, L Williams, J Selfridge, A Bird, S R Cob. Reduced seizure threshold and altered network oscillatory properties in a mouse model of Rett syndrome. Neuroscience. vol 231. 2013-07-25. PMID:23238573. |
rett syndrome (rtt) is a disorder with a pronounced neurological phenotype and is caused mainly by mutations in the x-linked gene mecp2. |
2013-07-25 |
2023-08-12 |
mouse |
| Kamal K E Gadalla, Mark E S Bailey, Rosemary C Spike, Paul D Ross, Kenton T Woodard, Sahana Nagabhushan Kalburgi, Lavanya Bachaboina, Jie V Deng, Anne E West, R Jude Samulski, Steven J Gray, Stuart R Cob. Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. Molecular therapy : the journal of the American Society of Gene Therapy. vol 21. issue 1. 2013-07-23. PMID:23011033. |
typical rett syndrome (rtt) is a pediatric disorder caused by loss-of-function mutations in the methyl-cpg binding protein 2 (mecp2) gene. |
2013-07-23 |
2023-08-12 |
mouse |
| b' David P Stuss, Manjinder Cheema, Marlee K Ng, Alexia Martinez de Paz, Brad Williamson, Kristal Missiaen, Joel D Cosman, David McPhee, Manel Esteller, Michael Hendzel, Kerry Delaney, Juan Ausi\\xc3\\xb. Impaired in vivo binding of MeCP2 to chromatin in the absence of its DNA methyl-binding domain. Nucleic acids research. vol 41. issue 9. 2013-07-02. PMID:23558747.' |
we analysed the role of the mbd in mecp2-chromatin associations in vivo using an mecp2 mutant rett syndrome mouse model (mecp2(tm1.1jae)) in which exon 3 deletion results in an n-terminal truncation of the protein, including most of the mbd. |
2013-07-02 |
2023-08-12 |
mouse |
| Xin Jin, Ningren Cui, Weiwei Zhong, Xiao-Tao Jin, Chun Jian. GABAergic synaptic inputs of locus coeruleus neurons in wild-type and Mecp2-null mice. American journal of physiology. Cell physiology. vol 304. issue 9. 2013-06-28. PMID:23392116. |
rett syndrome is an autism spectrum disorder resulting from defects in the gene encoding the methyl-cpg-binding protein 2 (mecp2). |
2013-06-28 |
2023-08-12 |
mouse |
| Faye Lim, Jenny Downs, Jianghong Li, Xin-Hua Bao, Helen Leonar. Barriers to diagnosis of a rare neurological disorder in China--lived experiences of Rett syndrome families. American journal of medical genetics. Part A. vol 158A. issue 1. 2013-06-20. PMID:22106023. |
rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the mecp2 gene. |
2013-06-20 |
2023-08-12 |
Not clear |
| Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Miriam Savini, Francesca Cogliati, Silvia Russo, Maria Paola Canevin. Medical care of adolescents and women with Rett syndrome: an Italian study. American journal of medical genetics. Part A. vol 158A. issue 1. 2013-06-20. PMID:22139899. |
rett syndrome (rtt) is a rare neurodevelopmental disorder, linked to mecp2 gene mutations in the majority of cases, which results in severe disability and is associated with several comorbidities. |
2013-06-20 |
2023-08-12 |
Not clear |
| Min Lang, Robert G Wither, Jonathan M Brotchie, Chiping Wu, Liang Zhang, James H Eubank. Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice. Human molecular genetics. vol 22. issue 2. 2013-06-17. PMID:23077217. |
rett syndrome (rtt) is a neurodevelopmental disorder caused primarily by mutations of the x-linked mecp2 gene. |
2013-06-17 |
2023-08-12 |
mouse |
| Holly N Cukier, Joycelyn M Lee, Deqiong Ma, Juan I Young, Vera Mayo, Brittany L Butler, Sandhya S Ramsook, Joseph A Rantus, Alexander J Abrams, Patrice L Whitehead, Harry H Wright, Ruth K Abramson, Jonathan L Haines, Michael L Cuccaro, Margaret A Pericak-Vance, John R Gilber. The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism research : official journal of the International Society for Autism Research. vol 5. issue 6. 2013-05-30. PMID:23055267. |
the methyl-cpg-binding domain (mbd) gene family was first linked to autism over a decade ago when rett syndrome, which falls under the umbrella of autism spectrum disorders (asds), was revealed to be predominantly caused by mecp2 mutations. |
2013-05-30 |
2023-08-12 |
Not clear |
| Robby M Zachariah, Carl O Olson, Chinelo Ezeonwuka, Mojgan Rastega. Novel MeCP2 isoform-specific antibody reveals the endogenous MeCP2E1 expression in murine brain, primary neurons and astrocytes. PloS one. vol 7. issue 11. 2013-05-30. PMID:23185431. |
rett syndrome (rtt) is a severe neurological disorder in young females, and is caused by mutations in the x-linked mecp2 gene. |
2013-05-30 |
2023-08-12 |
mouse |
| Thierry Durand, Claudio De Felice, Cinzia Signorini, Camille Oger, Valérie Bultel-Poncé, Alexandre Guy, Jean-Marie Galano, Silvia Leoncini, Lucia Ciccoli, Alessandra Pecorelli, Giuseppe Valacchi, Joussef Haye. F(2)-Dihomo-isoprostanes and brain white matter damage in stage 1 Rett syndrome. Biochimie. vol 95. issue 1. 2013-05-23. PMID:23009927. |
oxidative damage has been reported in rett syndrome (rtt), a pervasive development disorder mainly caused up to 95% of cases by mutations in the x-linked methyl-cpg binding protein 2 (mecp2) gene. |
2013-05-23 |
2023-08-12 |
Not clear |
| Jeffrey Lorenz Neu. The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues in clinical neuroscience. vol 14. issue 3. 2013-05-23. PMID:23226951. |
the relationship of rett syndrome and mecp2 disorders to autism. |
2013-05-23 |
2023-08-12 |
mouse |
| Alka Saxena, Dave Tang, Piero Carninc. piRNAs warrant investigation in Rett Syndrome: an omics perspective. Disease markers. vol 33. issue 5. 2013-05-20. PMID:22976001. |
mutations in the mecp2 gene are found in a large proportion of girls with rett syndrome. |
2013-05-20 |
2023-08-12 |
mouse |
| Alka Saxena, Dave Tang, Piero Carninc. piRNAs warrant investigation in Rett Syndrome: an omics perspective. Disease markers. vol 33. issue 5. 2013-05-20. PMID:22976001. |
our investigation suggests that global pirna levels may be elevated in the mecp2 knockout mouse cerebellum and strongly supports further investigation of pirnas in rett syndrome. |
2013-05-20 |
2023-08-12 |
mouse |