All Relations between Rett Syndrome and mecp2

Publication Sentence Publish Date Extraction Date Species
Richard D Smrt, Julialea Eaves-Egenes, Basam Z Barkho, Nicholas J Santistevan, Chunmei Zhao, James B Aimone, Fred H Gage, Xinyu Zha. Mecp2 deficiency leads to delayed maturation and altered gene expression in hippocampal neurons. Neurobiology of disease. vol 27. issue 1. 2007-09-06. PMID:17532643. however, how deficiencies in mecp2 contribute to the neurological dysfunction of rett syndrome is not clear. 2007-09-06 2023-08-12 mouse
S Voutoufianakis, S Psoni, P Vorgia, F Tsekoura, K Kekou, J Traeger-Synodinos, S Kitsiou, E Kanavakis, H Fryssir. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 11. issue 4. 2007-09-05. PMID:17276711. coinheritance of mutated smn1 and mecp2 genes in a child with phenotypic features of spinal muscular atrophy (sma) type ii and rett syndrome. 2007-09-05 2023-08-12 Not clear
S Voutoufianakis, S Psoni, P Vorgia, F Tsekoura, K Kekou, J Traeger-Synodinos, S Kitsiou, E Kanavakis, H Fryssir. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 11. issue 4. 2007-09-05. PMID:17276711. rett syndrome (rs) is an x-linked dominant neurodevelopmental disorder caused by mutations in mecp2 (xq28) and characterized by normal development until 6-12 months of age, followed by regression with loss of acquired skills, gradual onset of microcephaly, stereotypic hand movements and psychomotor delay. 2007-09-05 2023-08-12 Not clear
M Santos, A Silva-Fernandes, P Oliveira, Nuno Sousa, Patrícia Macie. Evidence for abnormal early development in a mouse model of Rett syndrome. Genes, brain, and behavior. vol 6. issue 3. 2007-08-29. PMID:16848781. rett syndrome (rtt) is a neurodevelopmental disorder that affects mainly females, associated in most cases to mutations in the mecp2 gene. 2007-08-29 2023-08-12 mouse
Meir Lota. Assistive technology and supplementary treatment for individuals with Rett syndrome. TheScientificWorldJournal. vol 7. 2007-08-21. PMID:17619776. rett syndrome (rs) is a neurological disorder, affecting mainly females, caused by mecp2 mutations usually resulting in severe physical disability. 2007-08-21 2023-08-12 Not clear
Ana M Coutinho, Guiomar Oliveira, Cécile Katz, Jinong Feng, Jin Yan, Chunmei Yang, Carla Marques, Assunção Ataíde, Teresa S Miguel, Luís Borges, Joana Almeida, Catarina Correia, António Currais, Celeste Bento, Luísa Mota-Vieira, Teresa Temudo, Mónica Santos, Patrícia Maciel, Steve S Sommer, Astrid M Vicent. MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 144B. issue 4. 2007-08-14. PMID:17427193. mutations in the coding sequence of the methyl-cpg-binding protein 2 gene (mecp2), which cause rett syndrome (rtt), have been found in male and female autistic subjects without, however, a causal relation having unequivocally been established. 2007-08-14 2023-08-12 human
ChaRandle Jordan, Hong Hua Li, Helen C Kwan, Uta Franck. Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. BMC medical genetics. vol 8. 2007-07-26. PMID:17584923. cerebellar gene expression profiles of mouse models for rett syndrome reveal novel mecp2 targets. 2007-07-26 2023-08-12 mouse
ChaRandle Jordan, Hong Hua Li, Helen C Kwan, Uta Franck. Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets. BMC medical genetics. vol 8. 2007-07-26. PMID:17584923. mecp2 mutations in females lead to rett syndrome, a neurological disorder characterized by developmental stagnation and regression, loss of purposeful hand movements and speech, stereotypic hand movements, deceleration of brain growth, autonomic dysfunction and seizures. 2007-07-26 2023-08-12 mouse
Gaëtan Lesca, Virginie Bernard, Muriel Bozon, Renaud Touraine, Daniel Gérard, Patrick Edery, Alain Calende. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. European journal of medical genetics. vol 50. issue 3. 2007-07-20. PMID:17383248. mutations of the mecp2 (methyl-cpg-binding protein) gene mainly cause rett syndrome but were also shown to be involved in mental retardation. 2007-07-20 2023-08-12 human
Chris G Harvey, Sailesh D Menon, Beata Stachowiak, Abdul Noor, Adam Proctor, Albert K Mensah, Gevork N Mnatzakanian, Simon E Alfred, Ray Guo, Stephen W Scherer, James L Kennedy, Wendy Roberts, Anand K Srivastava, Anand K Srivistava, Berge A Minassian, John B Vincen. Sequence variants within exon 1 of MECP2 occur in females with mental retardation. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 144B. issue 3. 2007-07-18. PMID:17171659. a new splice variant of the rett syndrome gene, mecp2, was recently identified, that includes coding sequence from exon 1, and is the predominant transcript in the central nervous system. 2007-07-18 2023-08-12 Not clear
N A Stearns, L R Schaevitz, H Bowling, N Nag, U V Berger, J Berger-Sweene. Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome. Neuroscience. vol 146. issue 3. 2007-07-03. PMID:17383101. behavioral and anatomical abnormalities in mecp2 mutant mice: a model for rett syndrome. 2007-07-03 2023-08-12 mouse
N A Stearns, L R Schaevitz, H Bowling, N Nag, U V Berger, J Berger-Sweene. Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome. Neuroscience. vol 146. issue 3. 2007-07-03. PMID:17383101. over 90% of rett syndrome (rtt) cases have a mutation in the x-linked gene encoding methyl cpg binding-protein 2 (mecp2). 2007-07-03 2023-08-12 mouse
Daniela Zahorakova, Robert Rosipal, Jan Hadac, Alena Zumrova, Vladimir Bzduch, Nadezda Misovicova, Alice Baxova, Jiri Zeman, Pavel Martase. Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. Journal of human genetics. vol 52. issue 4. 2007-07-03. PMID:17387578. mutation analysis of the mecp2 gene in patients of slavic origin with rett syndrome: novel mutations and polymorphisms. 2007-07-03 2023-08-12 Not clear
Daniela Zahorakova, Robert Rosipal, Jan Hadac, Alena Zumrova, Vladimir Bzduch, Nadezda Misovicova, Alice Baxova, Jiri Zeman, Pavel Martase. Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. Journal of human genetics. vol 52. issue 4. 2007-07-03. PMID:17387578. rett syndrome (rtt), an x-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-cpg-binding protein 2 gene (mecp2). 2007-07-03 2023-08-12 Not clear
Jean-Christophe Roux, Emmanuelle Dura, Anne Moncla, Josette Mancini, Laurent Villar. Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome. The European journal of neuroscience. vol 25. issue 7. 2007-06-21. PMID:17439480. rett syndrome (rs) is a severe x-linked neurological disorder in which most patients have mutations in the methyl-cpg binding protein2 (mecp2) gene. 2007-06-21 2023-08-12 mouse
Mário Campos, Cláudia Bueno Abdalla, Cíntia Barros Santos-Rebouças, Adriana Vaz dos Santos, Cristiane Pinheiro Pestana, Mariana Lopes Domingues, Jussara Mendonça dos Santos, Márcia Mattos Gonçalves Pimente. Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. Brain & development. vol 29. issue 5. 2007-06-20. PMID:17084570. mutations in mecp2 gene, located in xq28, have been reported as being the major cause of rett syndrome and are also associated with some cases of x-linked mental retardation in both males and females. 2007-06-20 2023-08-12 Not clear
Hayley Archer, Julie Evans, Helen Leonard, Lyn Colvin, David Ravine, John Christodoulou, Sarah Williamson, Tony Charman, Mark E S Bailey, Julian Sampson, Nicholas de Klerk, Angus Clark. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. Journal of medical genetics. vol 44. issue 2. 2007-06-07. PMID:16905679. correlation between clinical severity in patients with rett syndrome with a p.r168x or p.t158m mecp2 mutation, and the direction and degree of skewing of x-chromosome inactivation. 2007-06-07 2023-08-12 Not clear
Hayley Archer, Julie Evans, Helen Leonard, Lyn Colvin, David Ravine, John Christodoulou, Sarah Williamson, Tony Charman, Mark E S Bailey, Julian Sampson, Nicholas de Klerk, Angus Clark. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. Journal of medical genetics. vol 44. issue 2. 2007-06-07. PMID:16905679. rett syndrome (rtt) is an x-linked dominant neurodevelopmental disorder that is usually associated with mutations in the mecp2 gene. 2007-06-07 2023-08-12 Not clear
Shih-Jen Tsa. Semax, an analogue of adrenocorticotropin (4-10), is a potential agent for the treatment of attention-deficit hyperactivity disorder and Rett syndrome. Medical hypotheses. vol 68. issue 5. 2007-06-06. PMID:16996699. furthermore, increased bdnf activity is found to improve rett syndrome, a severe neurodevelopmental disorder which is, in the majority of cases, caused by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). 2007-06-06 2023-08-12 Not clear
Vivianne Deng, Valerie Matagne, Fatima Banine, Matthew Frerking, Patricia Ohliger, Sarojini Budden, Jonathan Pevsner, Gregory A Dissen, Larry S Sherman, Sergio R Ojed. FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice. Human molecular genetics. vol 16. issue 6. 2007-06-06. PMID:17309881. fxyd1 is an mecp2 target gene overexpressed in the brains of rett syndrome patients and mecp2-null mice. 2007-06-06 2023-08-12 mouse