| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
rett syndrome (rtt) is an x-linked neurodevelopmental disorder linked to heterozygous de novo mutations in the mecp2 gene. |
2007-06-06 |
2023-08-12 |
mouse |
| Amber Hogart, Raman P Nagarajan, Katherine A Patzel, Dag H Yasui, Janine M Lasall. 15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Human molecular genetics. vol 16. issue 6. 2007-06-06. PMID:17339270. |
gabrb3 protein expression is also reduced in rett syndrome (rtt), caused by mutations in mecp2 on xq28. |
2007-06-06 |
2023-08-12 |
mouse |
| Georg M Stettner, Peter Huppke, Cornelia Brendel, Diethelm W Richter, Jutta Gärtner, Mathias Dutschman. Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice. The Journal of physiology. vol 579. issue Pt 3. 2007-05-16. PMID:17204503. |
rett syndrome (rtt) is an inborn neurodevelopmental disorder caused by mutations in the x-linked methyl-cpg binding protein 2 gene (mecp2). |
2007-05-16 |
2023-08-12 |
mouse |
| Joanna M Dragich, Yong-Hwan Kim, Arthur P Arnold, N Carolyn Schane. Differential distribution of the MeCP2 splice variants in the postnatal mouse brain. The Journal of comparative neurology. vol 501. issue 4. 2007-05-01. PMID:17278130. |
mutations in the gene encoding methyl cpg binding protein 2 (mecp2) are the primary cause of the neurodevelopmental disorder rett syndrome (rtt). |
2007-05-01 |
2023-08-12 |
mouse |
| T Temudo, P Oliveira, M Santos, K Dias, J Vieira, A Moreira, E Calado, I Carrilho, G Oliveira, A Levy, C Barbot, M Fonseca, A Cabral, A Dias, P Cabral, J Monteiro, L Borges, R Gomes, C Barbosa, G Mira, F Eusébio, M Santos, J Sequeiros, P Macie. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations. Neurology. vol 68. issue 15. 2007-05-01. PMID:17420401. |
stereotypies in rett syndrome: analysis of 83 patients with and without detected mecp2 mutations. |
2007-05-01 |
2023-08-12 |
Not clear |
| Xinsheng Nan, Jianghui Hou, Alan Maclean, Jamal Nasir, Maria Jose Lafuente, Xinhua Shu, Skirmantas Kriaucionis, Adrian Bir. Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proceedings of the National Academy of Sciences of the United States of America. vol 104. issue 8. 2007-04-12. PMID:17296936. |
mutations in the human methyl-cpg-binding protein gene mecp2 cause the neurological disorder rett syndrome and some cases of x-linked mental retardation (xlmr). |
2007-04-12 |
2023-08-12 |
mouse |
| Xinsheng Nan, Jianghui Hou, Alan Maclean, Jamal Nasir, Maria Jose Lafuente, Xinhua Shu, Skirmantas Kriaucionis, Adrian Bir. Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proceedings of the National Academy of Sciences of the United States of America. vol 104. issue 8. 2007-04-12. PMID:17296936. |
point mutations within the methylated dna-binding domain of mecp2 that cause rett syndrome or x-linked mental retardation inhibit its interaction with atrx in vitro and its localization in vivo without affecting methyl-cpg binding. |
2007-04-12 |
2023-08-12 |
mouse |
| Alexandre G Dayer, Armand Bottani, Isabelle Bouchardy, Joel Fluss, Stylianos E Antonarakis, Charles-Antoine Haenggeli, Michael A Morri. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. Brain & development. vol 29. issue 1. 2007-04-05. PMID:16844334. |
mecp2 mutant allele in a boy with rett syndrome and his unaffected heterozygous mother. |
2007-04-05 |
2023-08-12 |
Not clear |
| Alexandre G Dayer, Armand Bottani, Isabelle Bouchardy, Joel Fluss, Stylianos E Antonarakis, Charles-Antoine Haenggeli, Michael A Morri. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother. Brain & development. vol 29. issue 1. 2007-04-05. PMID:16844334. |
we report a 4-year-old boy with a rett syndrome phenotype and his unaffected mother both carrying a 44 bp truncating deletion mutation (c.1158del44 or p.388x) in the mecp2 gene. |
2007-04-05 |
2023-08-12 |
Not clear |
| b' Tanja Matijevi\\xc4\\x87, Jelena Knezevi\\xc4\\x87, Ingeborg Barisi\\xc4\\x87, Biserka Resi\\xc4\\x87, Vida Culi\\xc4\\x87, Jasminka Paveli\\xc4\\x8. The MECP2 gene mutation screening in Rett syndrome patients from Croatia. Annals of the New York Academy of Sciences. vol 1091. 2007-03-28. PMID:17341617.' |
the mecp2 gene mutation screening in rett syndrome patients from croatia. |
2007-03-28 |
2023-08-12 |
Not clear |
| Emanuela Giacometti, Sandra Luikenhuis, Caroline Beard, Rudolf Jaenisc. Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proceedings of the National Academy of Sciences of the United States of America. vol 104. issue 6. 2007-03-22. PMID:17267601. |
in humans, mutations in the x-linked mecp2 gene, are the cause of rett syndrome (rtt), a neurodevelopmental disorder that affects mainly girls. |
2007-03-22 |
2023-08-12 |
mouse |
| Kunio Miyake, Kaoru Naga. Phosphorylation of methyl-CpG binding protein 2 (MeCP2) regulates the intracellular localization during neuronal cell differentiation. Neurochemistry international. vol 50. issue 1. 2007-03-20. PMID:17052801. |
mutations in the mecp2 gene is known to cause human autistic disease rett syndrome, but its molecular mechanisms remain to be elucidated. |
2007-03-20 |
2023-08-12 |
mouse |
| Mei-Rong Li, Hong Pan, Xin-Hua Bao, Yu-Zhi Zhang, Xi-Ru W. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. Journal of human genetics. vol 52. issue 1. 2007-03-16. PMID:17089071. |
mecp2 and cdkl5 gene mutation analysis in chinese patients with rett syndrome. |
2007-03-16 |
2023-08-12 |
Not clear |
| Mei-Rong Li, Hong Pan, Xin-Hua Bao, Yu-Zhi Zhang, Xi-Ru W. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. Journal of human genetics. vol 52. issue 1. 2007-03-16. PMID:17089071. |
rett syndrome (rtt) is a progressive neurodevelopmental disorder that is caused by mutations in the x-linked methyl-cpg-binding protein2 (mecp2) gene. |
2007-03-16 |
2023-08-12 |
Not clear |
| Jacky Guy, Jian Gan, Jim Selfridge, Stuart Cobb, Adrian Bir. Reversal of neurological defects in a mouse model of Rett syndrome. Science (New York, N.Y.). vol 315. issue 5815. 2007-03-07. PMID:17289941. |
rett syndrome is an autism spectrum disorder caused by mosaic expression of mutant copies of the x-linked mecp2 gene in neurons. |
2007-03-07 |
2023-08-12 |
mouse |
| Tatiana Nikitina, Xi Shi, Rajarshi P Ghosh, Rachel A Horowitz-Scherer, Jeffrey C Hansen, Christopher L Woodcoc. Multiple modes of interaction between the methylated DNA binding protein MeCP2 and chromatin. Molecular and cellular biology. vol 27. issue 3. 2007-03-05. PMID:17101771. |
mutations of the methylated dna binding protein mecp2, a multifunctional protein that is thought to transmit epigenetic information encoded as methylated cpg dinucleotides to the transcriptional machinery, give rise to the debilitating neurodevelopmental disease rett syndrome (rtt). |
2007-03-05 |
2023-08-12 |
human |
| Daniela del Gaudio, Ping Fang, Fernando Scaglia, Patricia A Ward, William J Craigen, Daniel G Glaze, Jeffrey L Neul, Ankita Patel, Jennifer A Lee, Mira Irons, Susan A Berry, Amber A Pursley, Theresa A Grebe, Debra Freedenberg, Rick A Martin, Gary E Hsich, Jena R Khera, Neil R Friedman, Huda Y Zoghbi, Christine M Eng, James R Lupski, Arthur L Beaudet, Sau Wai Cheung, Benjamin B Ro. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genetics in medicine : official journal of the American College of Medical Genetics. vol 8. issue 12. 2007-03-05. PMID:17172942. |
mutations in the mecp2 gene are associated with rett syndrome, an x-linked mental retardation disorder in females. |
2007-03-05 |
2023-08-12 |
Not clear |
| Young Joon Moon, Yoonsung Kang, Jee-Hye Choi, Kwang-Ho Le. Detection of heterozygous nonsense mutations in genes of interest using an Escherichia coli-based stop codon assay. Biotechnology and applied biochemistry. vol 46. issue Pt 2. 2007-02-28. PMID:16995837. |
to evaluate the applicability of the e-sc method for the detection of the heterozygous truncating mutation, pcr-amplified exon 7 of the star [steroidogenic acute regulatory protein; causative gene of the cah (congenital lipoid adrenal hyperplasia)] and rt (reverse transcription)-pcr-amplified full-length cdna of mecp2 (methyl-cpg-binding protein 2; causative gene of rett syndrome) were used. |
2007-02-28 |
2023-08-12 |
Not clear |
| Y Chunshu, K Endoh, M Soutome, R Kawamura, T Kubot. A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1. Clinical genetics. vol 70. issue 6. 2007-01-24. PMID:17101000. |
a patient with classic rett syndrome with a novel mutation in mecp2 exon 1. |
2007-01-24 |
2023-08-12 |
Not clear |
| Bryan E McGill, Sharyl F Bundle, Murat B Yaylaoglu, James P Carson, Christina Thaller, Huda Y Zoghb. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proceedings of the National Academy of Sciences of the United States of America. vol 103. issue 48. 2007-01-19. PMID:17108082. |
rett syndrome (rtt), a postnatal neurodevelopmental disorder, is caused by mutations in the methyl-cpg-binding protein 2 (mecp2) gene. |
2007-01-19 |
2023-08-12 |
mouse |