| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Gevork N Mnatzakanian, Hannes Lohi, Iulia Munteanu, Simon E Alfred, Takahiro Yamada, Patrick J M MacLeod, Julie R Jones, Stephen W Scherer, N Carolyn Schanen, Michael J Friez, John B Vincent, Berge A Minassia. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nature genetics. vol 36. issue 4. 2004-08-16. PMID:15034579. |
rett syndrome is caused by mutations in the gene mecp2 in approximately 80% of affected individuals. |
2004-08-16 |
2023-08-12 |
Not clear |
| Rebecca Muhle, Stephanie V Trentacoste, Isabelle Rapi. The genetics of autism. Pediatrics. vol 113. issue 5. 2004-08-09. PMID:15121991. |
except for rett syndrome--attributable in most affected individuals to mutations of the methyl-cpg-binding protein 2 (mecp2) gene--the other pdd subtypes (autistic disorder, asperger disorder, disintegrative disorder, and pdd not otherwise specified [pdd-nos]) are not linked to any particular genetic or nongenetic cause. |
2004-08-09 |
2023-08-12 |
Not clear |
| Marie Gomot, Chantal Gendrot, Alain Verloes, Martine Raynaud, Albert David, Helger G Yntema, Sabine Dessay, Vera Kalscheuer, Suzanne Frints, Philippe Couvert, Sylvain Briault, Sophie Blesson, Annick Toutain, Jamel Chelly, Vincent Desportes, Claude Morain. MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. American journal of medical genetics. Part A. vol 123A. issue 2. 2004-07-16. PMID:14598336. |
in rett syndrome (rtt), an x-linked dominant condition mostly sporadic and usually lethal in males, most affected females have been shown to be mutated in the methyl-cpg binding protein 2 gene (mecp2) that maps at xq28. |
2004-07-16 |
2023-08-12 |
Not clear |
| Skirmantas Kriaucionis, Adrian Bir. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic acids research. vol 32. issue 5. 2004-07-06. PMID:15034150. |
in humans, mutations in the mecp2 gene are the major cause of rett syndrome. |
2004-07-06 |
2023-08-12 |
mouse |
| Skirmantas Kriaucionis, Adrian Bir. The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic acids research. vol 32. issue 5. 2004-07-06. PMID:15034150. |
the presence of a previously unknown mecp2 isoform has implications for the genetic screening of rett syndrome patients and for studies of the functional significance of mecp2. |
2004-07-06 |
2023-08-12 |
mouse |
| Valéry Matarazzo, Gabriele V Ronnet. Temporal and regional differences in the olfactory proteome as a consequence of MeCP2 deficiency. Proceedings of the National Academy of Sciences of the United States of America. vol 101. issue 20. 2004-07-06. PMID:15128950. |
rett syndrome (rtt) is a neurodevelopmental disorder caused by mutations in the gene encoding mecp2. |
2004-07-06 |
2023-08-12 |
mouse |
| Judit Kárteszi, Katalin Hollódy, Judit Bene, Eva Morava, Kinga Hadzsiev, Márta Czakó, Béla Melegh, György Kosztolány. [Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]. Orvosi hetilap. vol 145. issue 17. 2004-07-06. PMID:15170968. |
[mutational analysis of the mecp2 gene by direct sequencing in hungarian patients with rett syndrome]. |
2004-07-06 |
2023-08-12 |
Not clear |
| Stella Carro, Anna Bergo, Mauro Mengoni, Angela Bachi, Gianfranco Badaracco, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction. The Journal of biological chemistry. vol 279. issue 24. 2004-07-01. PMID:15056664. |
it has been recently demonstrated that mecp2 mutations cause rett syndrome, a childhood neurological disorder that represents one of the most common causes of mental retardation in females. |
2004-07-01 |
2023-08-12 |
human |
| Stella Carro, Anna Bergo, Mauro Mengoni, Angela Bachi, Gianfranco Badaracco, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. A novel protein, Xenopus p20, influences the stability of MeCP2 through direct interaction. The Journal of biological chemistry. vol 279. issue 24. 2004-07-01. PMID:15056664. |
our data suggest that regulation of mecp2 metabolism might be of relevant importance; in accordance with this, previous results have shown that some rett syndrome mutations are characterized by a decrease in mecp2 stability. |
2004-07-01 |
2023-08-12 |
human |
| Sandra Luikenhuis, Emanuela Giacometti, Caroline F Beard, Rudolf Jaenisc. Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proceedings of the National Academy of Sciences of the United States of America. vol 101. issue 16. 2004-06-15. PMID:15069197. |
expression of mecp2 in postmitotic neurons rescues rett syndrome in mice. |
2004-06-15 |
2023-08-12 |
mouse |
| Sandra Luikenhuis, Emanuela Giacometti, Caroline F Beard, Rudolf Jaenisc. Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. Proceedings of the National Academy of Sciences of the United States of America. vol 101. issue 16. 2004-06-15. PMID:15069197. |
mutations in mecp2 are the cause of rett syndrome (rtt) in humans, a neurodevelopmental disorder that affects mainly girls. |
2004-06-15 |
2023-08-12 |
mouse |
| Skirmantas Kriaucionis, Adrian Bir. DNA methylation and Rett syndrome. Human molecular genetics. vol 12 Spec No 2. 2004-06-04. PMID:12928486. |
rett syndrome is a neurological disorder caused by mutations in the mecp2 protein, which has been shown to bind methylated dna and repress transcription. |
2004-06-04 |
2023-08-12 |
mouse |
| Skirmantas Kriaucionis, Adrian Bir. DNA methylation and Rett syndrome. Human molecular genetics. vol 12 Spec No 2. 2004-06-04. PMID:12928486. |
this review will focus on experiments addressing the basic properties of mecp2 and on mouse models of rett syndrome that are starting to yield insights into this condition. |
2004-06-04 |
2023-08-12 |
mouse |
| Suzanne Cassel, Marie-Odile Revel, Christian Kelche, Jean Zwille. Expression of the methyl-CpG-binding protein MeCP2 in rat brain. An ontogenetic study. Neurobiology of disease. vol 15. issue 2. 2004-06-01. PMID:15006690. |
rett syndrome (rs) is caused by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2) and is characterized by arrested postnatal neurodevelopment. |
2004-06-01 |
2023-08-12 |
rat |
| Jeffrey L Neul, Huda Y Zoghb. Rett syndrome: a prototypical neurodevelopmental disorder. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 10. issue 2. 2004-05-17. PMID:15070486. |
the majority of cases of sporadic rett syndrome are caused by mutations in the gene encoding methyl-cpg-binding protein 2 (mecp2). |
2004-05-17 |
2023-08-12 |
Not clear |
| Jeffrey L Neul, Huda Y Zoghb. Rett syndrome: a prototypical neurodevelopmental disorder. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 10. issue 2. 2004-05-17. PMID:15070486. |
genotype/phenotype analysis revealed that the phenotypic spectrum of mecp2 mutations in humans is broader than initially suspected: mutations have been discovered in rett syndrome variants, mentally retarded males, and autistic children. |
2004-05-17 |
2023-08-12 |
Not clear |
| Jeffrey L Neul, Huda Y Zoghb. Rett syndrome: a prototypical neurodevelopmental disorder. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 10. issue 2. 2004-05-17. PMID:15070486. |
a variety of in vivo and in vitro models has been developed that allow analysis of mecp2 function and pathogenic studies of rett syndrome. |
2004-05-17 |
2023-08-12 |
Not clear |
| Carolyn Schanen, Elisa J F Houwink, Naghmeh Dorrani, Jane Lane, Ruth Everett, Alice Feng, Rita M Cantor, Alan Perc. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. American journal of medical genetics. Part A. vol 126A. issue 2. 2004-05-03. PMID:15057977. |
phenotypic manifestations of mecp2 mutations in classical and atypical rett syndrome. |
2004-05-03 |
2023-08-12 |
Not clear |
| Carolyn Schanen, Elisa J F Houwink, Naghmeh Dorrani, Jane Lane, Ruth Everett, Alice Feng, Rita M Cantor, Alan Perc. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. American journal of medical genetics. Part A. vol 126A. issue 2. 2004-05-03. PMID:15057977. |
since the identification of mutations in mecp2 in girls and women with apparent rett syndrome, numerous efforts have been made to develop phenotype-genotype correlations. |
2004-05-03 |
2023-08-12 |
Not clear |
| Sara Hammer, Naghmeh Dorrani, Jaana Hartiala, Stuart Stein, N Carolyn Schane. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation. American journal of medical genetics. Part A. vol 122A. issue 3. 2004-04-22. PMID:12966522. |
rett syndrome in a 47,xxx patient with a de novo mecp2 mutation. |
2004-04-22 |
2023-08-12 |
human |