| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Antonio V Delgado-Escueta, Blaise F D Bourgeoi. Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. Epilepsia. vol 49 Suppl 9. 2009-01-22. PMID:19087113. |
many example illustrate the lack of impact of genetic information on the treatment outcome: we do not treat dravet syndrome more successfully since scn1a testing became available; we do not treat lafora disease more successfully since testing for laforin and malin became available; we do not need to know the genetic nature of unverricht-lundborg disease or test for the cystatin b mutation in order to select or avoid certain drugs; we do not treat rett syndrome more successfully since mecp2 testing became available; we do not treat jme more successfully since we know its genetic origin; we do not treat autosomal dominant nocturnal frontal lobe epilepsy more successfully since we know its genetic origin and can test for its mutation. |
2009-01-22 |
2023-08-12 |
Not clear |
| S Xu, J C Han, A Morales, C M Menzie, K Williams, Y-S Fa. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. Cytogenetic and genome research. vol 122. issue 2. 2009-01-12. PMID:19096215. |
in particular, bdnf may modulate the risk of autism in wagr patients as suggested by its link with rett syndrome as a target of mecp2. |
2009-01-12 |
2023-08-12 |
Not clear |
| Abidemi A Adegbola, Michael L Gonzales, Andrew Chess, Janine M LaSalle, Gerald F Co. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Human genetics. vol 124. issue 6. 2009-01-07. PMID:18989701. |
mutations in mecp2 cause classic or preserved speech variant rett syndrome and intellectual disability in females and early demise or marked neurodevelopmental handicap in males. |
2009-01-07 |
2023-08-12 |
mouse |
| Laura Rusconi, Lisa Salvatoni, Laura Giudici, Ilaria Bertani, Charlotte Kilstrup-Nielsen, Vania Broccoli, Nicoletta Landsberge. CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. The Journal of biological chemistry. vol 283. issue 44. 2008-12-29. PMID:18701457. |
cdkl5 is a rather uncharacterized kinase, but its involvement in rtt seems to be explained by the fact that it works upstream of mecp2, the main cause of rett syndrome. |
2008-12-29 |
2023-08-12 |
mouse |
| Isamu Kameshita, Mari Sekiguchi, Daisuke Hamasaki, Yasunori Sugiyama, Naoya Hatano, Isao Suetake, Shoji Tajima, Noriyuki Sueyosh. Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1. Biochemical and biophysical research communications. vol 377. issue 4. 2008-12-16. PMID:18977197. |
considering that defects in the mecp2 or cdkl5 genes cause rett syndrome, we propose that the interaction between dnmt1 and cdkl5 may contribute to the pathogenic processes of rett syndrome. |
2008-12-16 |
2023-08-12 |
mouse |
| David J Bunyan, David O Robinso. Multiple de novo mutations in the MECP2 gene. Genetic testing. vol 12. issue 3. 2008-12-11. PMID:18652533. |
rett syndrome is an x-linked dominant disorder that usually arises following a single de novo mutation in the mecp2 gene. |
2008-12-11 |
2023-08-12 |
Not clear |
| Edith Doppler, Edward Rockenstein, Kiren Ubhi, Chandra Inglis, Michael Mante, Anthony Adame, Leslie Crews, Monika Hitzl, Herbert Moessler, Eliezer Maslia. Neurotrophic effects of Cerebrolysin in the Mecp2(308/Y) transgenic model of Rett syndrome. Acta neuropathologica. vol 116. issue 4. 2008-12-09. PMID:18600331. |
neurotrophic effects of cerebrolysin in the mecp2(308/y) transgenic model of rett syndrome. |
2008-12-09 |
2023-08-12 |
mouse |
| Edith Doppler, Edward Rockenstein, Kiren Ubhi, Chandra Inglis, Michael Mante, Anthony Adame, Leslie Crews, Monika Hitzl, Herbert Moessler, Eliezer Maslia. Neurotrophic effects of Cerebrolysin in the Mecp2(308/Y) transgenic model of Rett syndrome. Acta neuropathologica. vol 116. issue 4. 2008-12-09. PMID:18600331. |
rett syndrome is a childhood neurodevelopmental disorder caused by mutations in the gene encoding for methyl-cpg-binding protein (mecp2). |
2008-12-09 |
2023-08-12 |
mouse |
| Edith Doppler, Edward Rockenstein, Kiren Ubhi, Chandra Inglis, Michael Mante, Anthony Adame, Leslie Crews, Monika Hitzl, Herbert Moessler, Eliezer Maslia. Neurotrophic effects of Cerebrolysin in the Mecp2(308/Y) transgenic model of Rett syndrome. Acta neuropathologica. vol 116. issue 4. 2008-12-09. PMID:18600331. |
neuropathological studies in patients with rett syndrome and in mecp2 mutant models have shown reduced dendritic arborization and abnormal neuronal packing. |
2008-12-09 |
2023-08-12 |
mouse |
| Teresa Temudo, Elisabete Ramos, Karin Dias, Clara Barbot, Jose P Vieira, Ana Moreira, Eulalia Calado, Ines Carrilho, Guiomar Oliveira, Antonio Levy, Maria Fonseca, Alexandra Cabral, Pedro Cabral, Joao P Monteiro, Luis Borges, Roseli Gomes, Manuela Santos, Jorge Sequeiros, Patricia Macie. Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type. Movement disorders : official journal of the Movement Disorder Society. vol 23. issue 10. 2008-11-18. PMID:18512755. |
movement disorders in rett syndrome: an analysis of 60 patients with detected mecp2 mutation and correlation with mutation type. |
2008-11-18 |
2023-08-12 |
human |
| B Schüle, D D Armstrong, H Vogel, A Oviedo, U Franck. Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure. Clinical genetics. vol 74. issue 2. 2008-11-11. PMID:18477000. |
non-mosaic males with a 46,xy karyotype and a mecp2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from rett syndrome (rtt). |
2008-11-11 |
2023-08-12 |
mouse |
| Holly N Cukier, Alma M Perez, Ann L Collins, Zhaolan Zhou, Huda Y Zoghbi, Juan Bota. Genetic modifiers of MeCP2 function in Drosophila. PLoS genetics. vol 4. issue 9. 2008-11-11. PMID:18773074. |
loss of function of mecp2, a transcriptional regulator involved in chromatin remodeling, causes classic rett syndrome (rtt) as well as other related conditions characterized by autism, learning disabilities, or mental retardation. |
2008-11-11 |
2023-08-12 |
human |
| Sharyl L Fyffe, Jeff L Neul, Rodney C Samaco, Hsiao-Tuan Chao, Shay Ben-Shachar, Paolo Moretti, Bryan E McGill, Evan H Goulding, Elinor Sullivan, Laurence H Tecott, Huda Y Zoghb. Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron. vol 59. issue 6. 2008-11-04. PMID:18817733. |
rett syndrome (rtt) is an autism spectrum disorder caused by mutations in the x-linked gene encoding methyl-cpg binding protein 2 (mecp2). |
2008-11-04 |
2023-08-12 |
mouse |
| P F Giampietro, D B Schowalter, S Merchant, L R Campbell, T Swink, B B Ro. Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 22. issue 3. 2008-10-21. PMID:15875198. |
widened clinical spectrum of the q128p mecp2 mutation in rett syndrome. |
2008-10-21 |
2023-08-12 |
Not clear |
| P F Giampietro, D B Schowalter, S Merchant, L R Campbell, T Swink, B B Ro. Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. vol 22. issue 3. 2008-10-21. PMID:15875198. |
we describe a female patient with arnold chiari type i malformation, atypical rett syndrome characterized by postnatal onset microcephaly, stereotypic hand movements, ataxia, severe developmental delay, intractable tonic-clonic seizures, and a mecp2 mutation with a unique set of clinical findings. |
2008-10-21 |
2023-08-12 |
Not clear |
| Mari Kondo, Laura J Gray, Gregory J Pelka, John Christodoulou, Patrick P L Tam, Anthony J Hanna. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression. The European journal of neuroscience. vol 27. issue 12. 2008-10-09. PMID:18557922. |
environmental enrichment ameliorates a motor coordination deficit in a mouse model of rett syndrome--mecp2 gene dosage effects and bdnf expression. |
2008-10-09 |
2023-08-12 |
mouse |
| Mari Kondo, Laura J Gray, Gregory J Pelka, John Christodoulou, Patrick P L Tam, Anthony J Hanna. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression. The European journal of neuroscience. vol 27. issue 12. 2008-10-09. PMID:18557922. |
rett syndrome, commonly associated with mutations of the methyl cpg-binding protein 2 (mecp2) gene, is characterised by an apparently normal early postnatal development followed by deterioration of acquired cognitive and motor coordination skills in early childhood. |
2008-10-09 |
2023-08-12 |
mouse |
| Mari Kondo, Laura J Gray, Gregory J Pelka, John Christodoulou, Patrick P L Tam, Anthony J Hanna. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression. The European journal of neuroscience. vol 27. issue 12. 2008-10-09. PMID:18557922. |
to evaluate whether environmental factors may influence the disease outcome of rett syndrome, we tested the effect of environmental enrichment from 4 weeks of age on the behavioural competence of mutant mice harboring a mecp2 (tm1tam)-null allele. |
2008-10-09 |
2023-08-12 |
mouse |
| Mari Kondo, Laura J Gray, Gregory J Pelka, John Christodoulou, Patrick P L Tam, Anthony J Hanna. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome--Mecp2 gene dosage effects and BDNF expression. The European journal of neuroscience. vol 27. issue 12. 2008-10-09. PMID:18557922. |
our findings demonstrate a positive impact of environmental enrichment in a rett syndrome model; this impact may be dependent on the existence of one functional copy of mecp2. |
2008-10-09 |
2023-08-12 |
mouse |
| Mónica Santos, Jin Yan, Teresa Temudo, Guiomar Oliveira, José Pedro Vieira, Jinong Fen, Steve Sommer, Patrícia Macie. Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation. Disease markers. vol 24. issue 6. 2008-10-09. PMID:18688080. |
analysis of highly conserved regions of the 3'utr of mecp2 gene in patients with clinical diagnosis of rett syndrome and other disorders associated with mental retardation. |
2008-10-09 |
2023-08-12 |
mouse |