Rett syndrome

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10190684" target="_blank" >RIV/00216208:11110/13:10190684 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/13:10190684

Result on the web

<a href="http://dx.doi.org/10.5772/55020" target="_blank" >http://dx.doi.org/10.5772/55020</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5772/55020" target="_blank" >10.5772/55020</a>

Result language

angličtina

Original language name

Rett syndrome

Original language description

Defects in epigenetic mechanisms can give rise to several neurological and behavioral phenotypes. Rett syndrome (MIM 312750) is a pervasive neurodevelopmental disorder that is primarily caused by mutations in a gene encoding methyl-CpG-binding protein 2.The functions of the protein are related to DNA methylation, a key epigenetic mechanism that plays a critical role in gene silencing through chromatin remodeling. Rett syndrome was the first human disorder in which a link between epigenetic modificationand neuronal dysfunction was discovered. In this chapter, the clinical features and the molecular pathology of Rett syndrome will be discussed.

Czech name

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Czech description

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Type

C - Chapter in a specialist book

CEP classification

CE - Biochemistry

OECD FORD branch

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Project

<a href="/en/project/NT13120" target="_blank" >NT13120: Disorders caused by MECP2 mutations in Czech Republic and other genetic factors influencing their phenotype</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Book/collection name

Chromatin remodelling

ISBN

978-953-51-1087-3

Number of pages of the result

25

Pages from-to

199-223

Number of pages of the book

223

Publisher name

InTech

Place of publication

Chorvatsko

UT code for WoS chapter

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