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Literature DB >> 12442230

Rett syndrome and MeCP2: linking epigenetics and neuronal function.

Mona D Shahbazian¹, Huda Y Zoghbi.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2002 PMID： 12442230 PMCID： PMC378559 DOI： 10.1086/345360

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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173 in total

1. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.

Authors: R Trappe; F Laccone; J Cobilanschi; M Meins; P Huppke; F Hanefeld; W Engel
Journal: Am J Hum Genet Date: 2001-04-17 Impact factor: 11.025

2. The p120 catenin partner Kaiso is a DNA methylation-dependent transcriptional repressor.

Authors: A Prokhortchouk; B Hendrich; H Jørgensen; A Ruzov; M Wilm; G Georgiev; A Bird; E Prokhortchouk
Journal: Genes Dev Date: 2001-07-01 Impact factor: 11.361

3. Occurrence of Rett syndrome in boys.

Authors: H Leonard; J Silberstein; R Falk; I Houwink-Manville; C Ellaway; L S Raffaele; I W Engerström; C Schanen
Journal: J Child Neurol Date: 2001-05 Impact factor: 1.987

4. 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.

Authors: J B Nielsen; K F Henriksen; C Hansen; A Silahtaroglu; M Schwartz; N Tommerup
Journal: Eur J Hum Genet Date: 2001-03 Impact factor: 4.246

5. MECP2 is highly mutated in X-linked mental retardation.

Authors: 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 Cherif
Journal: Hum Mol Genet Date: 2001-04-15 Impact factor: 6.150

6. MeCP2 mutations in children with and without the phenotype of Rett syndrome.

Authors: 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 Naidu
Journal: Neurology Date: 2001-06-12 Impact factor: 9.910

7. Parental origin of de novo MECP2 mutations in Rett syndrome.

Authors: M Girard; P Couvert; A Carrié; M Tardieu; J Chelly; C Beldjord; T Bienvenu
Journal: Eur J Hum Genet Date: 2001-03 Impact factor: 4.246

8. Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

Authors: K Inui; M Akagi; J Ono; H Tsukamoto; K Shimono; T Mano; K Imai; M Yamada; T Muramatsu; N Sakai; S Okada
Journal: Brain Dev Date: 2001-07 Impact factor: 1.961

Review 9. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.

Authors: M D Shahbazian; H Y Zoghbi
Journal: Curr Opin Neurol Date: 2001-04 Impact factor: 5.710

10. DNA recognition by the methyl-CpG binding domain of MeCP2.

Authors: A Free; R I Wakefield; B O Smith; D T Dryden; P N Barlow; A P Bird
Journal: J Biol Chem Date: 2000-10-16 Impact factor: 5.157

54 in total

Review 1. Impact of induced pluripotent stem cells on the study of central nervous system disease.

Authors: Paige E Cundiff; Stewart A Anderson
Journal: Curr Opin Genet Dev Date: 2011-01-27 Impact factor: 5.578

2. Chronic administration of the neurotrophic agent cerebrolysin ameliorates the behavioral and morphological changes induced by neonatal ventral hippocampus lesion in a rat model of schizophrenia.

Authors: Rubén Antonio Vázquez-Roque; Brenda Ramos; Carolina Tecuatl; Ismael Juárez; Anthony Adame; Fidel de la Cruz; Sergio Zamudio; Raúl Mena; Edward Rockenstein; Eliezer Masliah; Gonzalo Flores
Journal: J Neurosci Res Date: 2011-09-19 Impact factor: 4.164

3. The phenotype associated with a large deletion on MECP2.

Authors: Ami Bebbington; Jenny Downs; Alan Percy; Mercé Pineda; Bruria Ben Zeev; Nadia Bahi-Buisson; Helen Leonard
Journal: Eur J Hum Genet Date: 2012-04-04 Impact factor: 4.246

4. MeCP2 is required for global heterochromatic and nucleolar changes during activity-dependent neuronal maturation.

Authors: Malaika K Singleton; Michael L Gonzales; Karen N Leung; Dag H Yasui; Diane I Schroeder; Keith Dunaway; Janine M LaSalle
Journal: Neurobiol Dis Date: 2011-03-21 Impact factor: 5.996

Review 5. Transient receptor potential channels as novel effectors of brain-derived neurotrophic factor signaling: potential implications for Rett syndrome.

Authors: Michelle D Amaral; Christopher A Chapleau; Lucas Pozzo-Miller
Journal: Pharmacol Ther Date: 2006-11-21 Impact factor: 12.310

Review 6. Chromatin architectural proteins.

Authors: Steven J McBryant; Valerie H Adams; Jeffrey C Hansen
Journal: Chromosome Res Date: 2006 Impact factor: 5.239