Agenesis of the corpus callosum: lessons from humans and mice.
Notice bibliographique
Résumé
BACKGROUND AND PURPOSE: The corpus callosum serves as a bridge to associate fibres between the two cerebral hemispheres. In placental mammals, this commissure provides for higher order neurological advantages. The molecular pathways involved in the development and pathogenesis of accallosal defects are sparse. The article reviews the current progress of studies undertaken to discern the embryological and genetic basis of the development of the corpus callosum. SOURCES OF DATA: The literature, including from sources such as MEDLINE and OMIM, were subjected to searches for articles reporting findings on corpus callosum development in humans and mice. PRINCIPAL FINDINGS: At least forty-six malformation syndromes and metabolic disorders have been reported in patients with complete agenesis or hypoplasia (dysgenesis) of the corpus callosum. Thirteen of these syndromes have an unknown mode of genetic inheritance, and the remaining syndromes and metabolic disorders exhibit either autosomal or X-linked inheritance among affected families. The use of patients with accallosal defects have identified mutations in at least thirty genes of the human genome, and therefore with roles implicated in the development of the corpus callosum. Patients with chromosome aberrations have been useful in defining regions on chromosomes that contain candidate genes for the development of the corpus callosum. At least eighteen different human chromosomes with numerical and/or structural aberrations have been reported in patients with acallosal defects. The mouse is an excellent model to study the structural and genetic factors that influence the development of the corpus callosum, with many similarities evident in humans. Spontaneous development of acallosal defects has been reported in at least seventeen mouse strains. Furthermore, with the use of Genetically Engineered Mice, a minimum of 15 candidate callosal agenesis genes were modeled in order to provide insightful knowledge of the molecular-structural parameters required for development of the corpus callosum. Of these mice, six had complete true agenesis of the corpus callosum, five had either true agenesis or hypoplasia of the corpus callosum, and four had hypoplasia of the corpus callosum. CONCLUSIONS: The molecular mechanisms implicated in the pathogenesis of agenesis or hypoplasia of the corpus callosum are at the verge of discovery, and are challenged by the complexity of many genes involved. Despite these barriers, findings from a complementary human-mouse model system have been helpful in understanding the genetic (molecular) causes of accallosal defects, a fascinating phenotype for over a century.
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Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,000 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».