| Titre : |
Genetics of X-Linked Intellectual Disability |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur |
| Année de publication : |
2016 |
| Importance : |
p.25-41 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Disease mechanisms Nonsyndromal XLID Syndromal XLID X-linked intellectual disability |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Intellectual disability (ID) represents a heterogeneous disorder affecting the development, function, and/or structure of the central nervous system. ID affects about 2–3% of the general population, with a male excess estimated around 30%. Genetic defects on the X chromosome are supposed to have a major role in this gender bias. X-linked intellectual disability (XLID) can be grouped into two categories, syndromal and nonsyndromal, although some genes can be responsible for both forms. In the past 2 decades, important progress has been made in identifying new causative genes and understanding the disease mechanisms underlying over 100 XLID conditions. Most known genes involve one of the following functional groups: presynaptic vesicle cycling and transport, cytoskeletal dynamics, cell adhesion and transsynaptic signaling, and translational regulation. Expanding knowledge of XLID also allows researchers to design new therapeutic approaches. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00003-0 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
Genetics of X-Linked Intellectual Disability [Texte imprimé et/ou numérique] / Charles E. SCHWARTZ, Auteur ; Luigi BOCCUTO, Auteur . - 2016 . - p.25-41. Langues : Anglais ( eng)
| Mots-clés : |
Disease mechanisms Nonsyndromal XLID Syndromal XLID X-linked intellectual disability |
| Index. décimale : |
SCI-D SCI-D - Neurosciences |
| Résumé : |
Intellectual disability (ID) represents a heterogeneous disorder affecting the development, function, and/or structure of the central nervous system. ID affects about 2–3% of the general population, with a male excess estimated around 30%. Genetic defects on the X chromosome are supposed to have a major role in this gender bias. X-linked intellectual disability (XLID) can be grouped into two categories, syndromal and nonsyndromal, although some genes can be responsible for both forms. In the past 2 decades, important progress has been made in identifying new causative genes and understanding the disease mechanisms underlying over 100 XLID conditions. Most known genes involve one of the following functional groups: presynaptic vesicle cycling and transport, cytoskeletal dynamics, cell adhesion and transsynaptic signaling, and translational regulation. Expanding knowledge of XLID also allows researchers to design new therapeutic approaches. |
| En ligne : |
http://dx.doi.org/10.1016/B978-0-12-800109-7.00003-0 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 |
|
Genetics of X-Linked Intellectual Disability
