| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| P Couvert, T Bienvenu, C Aquaviva, K Poirier, C Moraine, C Gendrot, A Verloes, C Andrès, A C Le Fevre, I Souville, J Steffann, V des Portes, H H Ropers, H G Yntema, J P Fryns, S Briault, J Chelly, B Cheri. MECP2 is highly mutated in X-linked mental retardation. Human molecular genetics. vol 10. issue 9. 2001-08-02. PMID:11309367. |
following the recent discovery that the methyl-cpg binding protein 2 (mecp2) gene located on xq28 is involved in rett syndrome (rtt), a wild spectrum of phenotypes, including mental handicap, has been shown to be associated with mutations in mecp2. |
2001-08-02 |
2023-08-12 |
Not clear |
| A M Kerr, Y Nomura, D Armstrong, M Anvret, P V Belichenko, S Budden, H Cass, J Christodoulou, A Clarke, C Ellaway, M d'Esposito, U Francke, M Hulten, P Julu, H Leonard, S Naidu, C Schanen, T Webb, I W Engerstrom, Y Yamashita, M Segaw. Guidelines for reporting clinical features in cases with MECP2 mutations. Brain & development. vol 23. issue 4. 2001-08-02. PMID:11376997. |
an international group recommends that papers relating phenotypes to genotypes involving mutations in the x chromosome gene mecp2 should provide a minimum data set reporting the range of disturbances frequently encountered in rett syndrome. |
2001-08-02 |
2023-08-12 |
Not clear |
| K Inui, M Akagi, J Ono, H Tsukamoto, K Shimono, T Mano, K Imai, M Yamada, T Muramatsu, N Sakai, S Okad. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. Brain & development. vol 23. issue 4. 2001-08-02. PMID:11376998. |
mutational analysis of mecp2 in japanese patients with atypical rett syndrome. |
2001-08-02 |
2023-08-12 |
Not clear |
| K Inui, M Akagi, J Ono, H Tsukamoto, K Shimono, T Mano, K Imai, M Yamada, T Muramatsu, N Sakai, S Okad. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome. Brain & development. vol 23. issue 4. 2001-08-02. PMID:11376998. |
to explore the spectrum of phenotypes resulting from mecp2 mutations, we searched for mutations in the mecp2 of 20 japanese patients who had more than five of the criteria necessary for rtt diagnosis proposed in 1988 (the rett syndrome diagnostic criteria work group, ann neurol 23 (1988) 425) and compared the phenotype between patients with and without mutation by giving a score to each diagnostic criterion. |
2001-08-02 |
2023-08-12 |
Not clear |
| K L Tucke. Methylated cytosine and the brain: a new base for neuroscience. Neuron. vol 30. issue 3. 2001-07-26. PMID:11430798. |
rett syndrome, a common form of mental retardation, is associated with mutations in the gene encoding mecp2, a methyl cpg binding protein linked to transcriptional repression. |
2001-07-26 |
2023-08-12 |
mouse |
| P A Wad. Methyl CpG binding proteins: coupling chromatin architecture to gene regulation. Oncogene. vol 20. issue 24. 2001-07-19. PMID:11420733. |
the identification of mutations in mecp2, the founding member of this family, as causal for the neurological developmental disorder rett syndrome provides additional information regarding amino acid residues crucial to the functions of this interesting protein family. |
2001-07-19 |
2023-08-12 |
Not clear |
| M Wan, K Zhao, S S Lee, U Franck. MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Human molecular genetics. vol 10. issue 10. 2001-07-12. PMID:11331619. |
mecp2 truncating mutations cause histone h4 hyperacetylation in rett syndrome. |
2001-07-12 |
2023-08-12 |
human |
| K Hoffbuhr, J M Devaney, B LaFleur, N Sirianni, C Scacheri, J Giron, J Schuette, J Innis, M Marino, M Philippart, V Narayanan, R Umansky, D Kronn, E P Hoffman, S Naid. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. vol 56. issue 11. 2001-07-12. PMID:11402105. |
mecp2 mutations in children with and without the phenotype of rett syndrome. |
2001-07-12 |
2023-08-12 |
Not clear |
| K Hoffbuhr, J M Devaney, B LaFleur, N Sirianni, C Scacheri, J Giron, J Schuette, J Innis, M Marino, M Philippart, V Narayanan, R Umansky, D Kronn, E P Hoffman, S Naid. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology. vol 56. issue 11. 2001-07-12. PMID:11402105. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the x-linked methyl cpg binding protein 2 (mecp2) gene. |
2001-07-12 |
2023-08-12 |
Not clear |
| I Ohki, N Shimotake, N Fujita, J Jee, T Ikegami, M Nakao, M Shirakaw. Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA. Cell. vol 105. issue 4. 2001-07-05. PMID:11371345. |
mutations in the mbd protein mecp2 cause the neurodevelopmental disease rett syndrome. |
2001-07-05 |
2023-08-12 |
human |
| I Ohki, N Shimotake, N Fujita, J Jee, T Ikegami, M Nakao, M Shirakaw. Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA. Cell. vol 105. issue 4. 2001-07-05. PMID:11371345. |
the structure indicates how mbd may access nucleosomal dna without encountering steric interference from core histones, and provides a basis to interpret mutations linked to rett syndrome in mecp2. |
2001-07-05 |
2023-08-12 |
human |
| J B Nielsen, K F Henriksen, C Hansen, A Silahtaroglu, M Schwartz, N Tommeru. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern. European journal of human genetics : EJHG. vol 9. issue 3. 2001-06-21. PMID:11313756. |
mecp2 mutations in danish patients with rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the x chromosome inactivation pattern. |
2001-06-21 |
2023-08-12 |
Not clear |
| M Girard, P Couvert, A Carrié, M Tardieu, J Chelly, C Beldjord, T Bienven. Parental origin of de novo MECP2 mutations in Rett syndrome. European journal of human genetics : EJHG. vol 9. issue 3. 2001-06-21. PMID:11313764. |
parental origin of de novo mecp2 mutations in rett syndrome. |
2001-06-21 |
2023-08-12 |
human |
| M D Shahbazian, H Y Zoghb. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Current opinion in neurology. vol 14. issue 2. 2001-06-14. PMID:11262731. |
molecular genetics of rett syndrome and clinical spectrum of mecp2 mutations. |
2001-06-14 |
2023-08-12 |
Not clear |
| M D Shahbazian, H Y Zoghb. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Current opinion in neurology. vol 14. issue 2. 2001-06-14. PMID:11262731. |
rett syndrome, a neurodevelopmental disorder that is a leading cause of mental retardation in females, is caused by mutations in the x-linked gene encoding methyl-cpg-binding protein 2 (mecp2). |
2001-06-14 |
2023-08-12 |
Not clear |
| M D Shahbazian, H Y Zoghb. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Current opinion in neurology. vol 14. issue 2. 2001-06-14. PMID:11262731. |
mecp2 is a transcriptional repressor that binds to methylated cpg dinucleotides throughout the genome, and mutations in rett syndrome patients are thought to result in at least a partial loss of function. |
2001-06-14 |
2023-08-12 |
Not clear |
| R Trappe, F Laccone, J Cobilanschi, M Meins, P Huppke, F Hanefeld, W Enge. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. American journal of human genetics. vol 68. issue 5. 2001-06-07. PMID:11309679. |
mecp2 mutations in sporadic cases of rett syndrome are almost exclusively of paternal origin. |
2001-06-07 |
2023-08-12 |
Not clear |
| A K Perc. Genetics of Rett syndrome: properties of the newly discovered gene and pathobiology of the disorder. Current opinion in pediatrics. vol 12. issue 6. 2001-05-31. PMID:11106281. |
the recent identification of mutations in the gene methyl-cpg-binding protein-2 (mecp2) in girls with rett syndrome (rs) has firmly established the molecular genetic basis of this unique, x-linked, dominant disorder and provides a dramatic conclusion to an intensive, decade-long search. |
2001-05-31 |
2023-08-12 |
Not clear |
| M Vacca, F Filippini, A Budillon, V Rossi, G Mercadante, E Manzati, F Gualandi, S Bigoni, C Trabanelli, G Pini, E Calzolari, A Ferlini, I Meloni, G Hayek, M Zappella, A Renieri, M D'Urso, M D'Esposito, F MacDonald, A Kerr, S Dhanjal, M Hulté. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. Journal of molecular medicine (Berlin, Germany). vol 78. issue 11. 2001-05-31. PMID:11269512. |
mutation analysis of the mecp2 gene in british and italian rett syndrome females. |
2001-05-31 |
2023-08-12 |
Not clear |
| M Vacca, F Filippini, A Budillon, V Rossi, G Mercadante, E Manzati, F Gualandi, S Bigoni, C Trabanelli, G Pini, E Calzolari, A Ferlini, I Meloni, G Hayek, M Zappella, A Renieri, M D'Urso, M D'Esposito, F MacDonald, A Kerr, S Dhanjal, M Hulté. Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. Journal of molecular medicine (Berlin, Germany). vol 78. issue 11. 2001-05-31. PMID:11269512. |
we review the literature on mecp2 mutations in rett syndrome. |
2001-05-31 |
2023-08-12 |
Not clear |