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Literature DB >> 15689438

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.

R E Amir¹, P Fang, Z Yu, D G Glaze, A K Percy, H Y Zoghbi, B B Roa, I B Van den Veyver.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2005 PMID： 15689438 PMCID： PMC1735975 DOI： 10.1136/jmg.2004.026161

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

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18 in total

1. Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2.

Authors: A Saxena; D de Lagarde; H Leonard; S L Williamson; V Vasudevan; J Christodoulou; E Thompson; P MacLeod; D Ravine
Journal: J Med Genet Date: 2005-09-09 Impact factor: 6.318

2. Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.

Authors: Dag H Yasui; Michael L Gonzales; Justin O Aflatooni; Florence K Crary; Daniel J Hu; Bryant J Gavino; Mari S Golub; John B Vincent; N Carolyn Schanen; Carl O Olson; Mojgan Rastegar; Janine M Lasalle
Journal: Hum Mol Genet Date: 2013-12-18 Impact factor: 6.150

Review 3. Rett syndrome and MeCP2.

Authors: Vichithra R B Liyanage; Mojgan Rastegar
Journal: Neuromolecular Med Date: 2014-03-11 Impact factor: 3.843

4. Splicing mutation associated with Rett syndrome and an experimental approach for genetic diagnosis.

Authors: Liron Abuhatzira; Kirill Makedonski; Yael Petel Galil; Eva Gak; Bruria Ben Zeev; Aharon Razin; Ruth Shemer
Journal: Hum Genet Date: 2005-10-28 Impact factor: 4.132

5. Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Authors: Y Petel-Galil; B Benteer; Y P Galil; B B Zeev; I Greenbaum; M Vecsler; B Goldman; H Lohi; B A Minassian; E Gak
Journal: J Med Genet Date: 2006-12 Impact factor: 6.318

6. Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.

Authors: Bredford Kerr; Jessica Soto C; Mauricio Saez; Alexander Abrams; Katherina Walz; Juan I Young
Journal: Eur J Hum Genet Date: 2011-08-10 Impact factor: 4.246

7. Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.

Authors: Daniela Zahorakova; Robert Rosipal; Jan Hadac; Alena Zumrova; Vladimir Bzduch; Nadezda Misovicova; Alice Baxova; Jiri Zeman; Pavel Martasek
Journal: J Hum Genet Date: 2007-02-15 Impact factor: 3.172