The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome-Reference-Cited by-同舟云学术

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The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome

Published:2015-12-08 Issue:3 Volume:25 Page:558-570
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Brown Kyla,Selfridge Jim,Lagger Sabine,Connelly John,De Sousa Dina,Kerr Alastair,Webb Shaun,Guy Jacky,Merusi Cara,Koerner Martha V.,Bird Adrian

Funder

Rett Syndrome Research Trust

Wellcome Trust Edinburgh Clinical Academic Training studentship to Kyla Brown

Wellcome Trust

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/25/3/558/18527518/ddv496.pdf

Reference34 articles.

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

2. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

3. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

4. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

5. Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

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1. Differential dynamics specify MeCP2 function at nucleosomes and methylated DNA;Nature Structural & Molecular Biology;2024-08-20

2. Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms;Human Molecular Genetics;2024-08-14

3. Precise in vivo RNA base editing with a wobble-enhanced circular CLUSTER guide RNA;Nature Biotechnology;2024-07-12

4. MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons;Neuron;2024-06

5. Mecp2 fine-tunes quiescence exit by targeting nuclear receptors;eLife;2024-05-15

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