Literature DB >> 11106359

Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome.

C W Lam, W L Yeung, C H Ko, P M Poon, S F Tong, K Y Chan, I F Lo, L Y Chan, J Hui, V Wong, C P Pang, Y M Lo, T F Fok.   

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Year:  2000        PMID： 11106359      PMCID： PMC1734495          DOI： 10.1136/jmg.37.12.e41

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  46 in total

1.  A brain-derived MeCP2 complex supports a role for MeCP2 in RNA processing.

Authors:  Steven W Long; Jenny Y Y Ooi; Peter M Yau; Peter L Jones
Journal:  Biosci Rep       Date:  2011-10       Impact factor: 3.840

2.  Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome.

Authors:  Paolo Moretti; Jonathan M Levenson; Fortunato Battaglia; Richard Atkinson; Ryan Teague; Barbara Antalffy; Dawna Armstrong; Ottavio Arancio; J David Sweatt; Huda Y Zoghbi
Journal:  J Neurosci       Date:  2006-01-04       Impact factor: 6.167

3.  Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.

Authors:  Rodney C Samaco; Amber Hogart; Janine M LaSalle
Journal:  Hum Mol Genet       Date:  2004-12-22       Impact factor: 6.150

Review 4.  Rett syndrome and the impact of MeCP2 associated transcriptional mechanisms on neurotransmission.

Authors:  Lisa M Monteggia; Ege T Kavalali
Journal:  Biol Psychiatry       Date:  2008-12-05       Impact factor: 13.382

Review 5.  Evolving role of MeCP2 in Rett syndrome and autism.

Authors:  Janine M LaSalle; Dag H Yasui
Journal:  Epigenomics       Date:  2009-10       Impact factor: 4.778

6.  Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.

Authors:  Makiko Meguro-Horike; Dag H Yasui; Weston Powell; Diane I Schroeder; Mitsuo Oshimura; Janine M Lasalle; Shin-ichi Horike
Journal:  Hum Mol Genet       Date:  2011-07-01       Impact factor: 6.150

7.  Genetic Studies in Autism.

Authors:  Shruthi Sudarshan; Neerja Gupta; Madhulika Kabra
Journal:  Indian J Pediatr       Date:  2016-03-03       Impact factor: 1.967

8.  Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.

Authors:  Rodney C Samaco; Christopher M McGraw; Christopher S Ward; Yaling Sun; Jeffrey L Neul; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2012-10-01       Impact factor: 6.150

9.  X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.

Authors:  Juan I Young; Huda Y Zoghbi
Journal:  Am J Hum Genet       Date:  2004-02-17       Impact factor: 11.025

10.  Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation.

Authors:  Raman P Nagarajan; Amber R Hogart; Ynnez Gwye; Michelle R Martin; Janine M LaSalle
Journal:  Epigenetics       Date:  2006 Oct-Dec       Impact factor: 4.528
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