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Titolo:
Molecular genetic classification of central nervous system malformations
Autore:
Sarnat, HB;
Indirizzi:
Univ Washington, Sch Med, Dept Neurol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 , Dept Neurol, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 , Dept Pediat, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Pathol Neuropathol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 l Neuropathol, Seattle, WA 98195 USA
Titolo Testata:
JOURNAL OF CHILD NEUROLOGY
fascicolo: 10, volume: 15, anno: 2000,
pagine: 675 - 687
SICI:
0883-0738(200010)15:10<675:MGCOCN>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
LHERMITTE-DUCLOS-DISEASE; DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS; NEURAL-TUBE; MUTANT MICE; CEREBELLAR DEVELOPMENT; PATTERN-FORMATION; STRIATED-MUSCLE; CELL LINEAGE; DIFFERENTIATION; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
75
Recensione:
Indirizzi per estratti:
Indirizzo: Sarnat, HB Childrens Hosp & Reg Med Ctr, Dept Neurol, CH-49,4800 Sand Point Way NE, Seattle, WA 98105 USA Childrens Hosp & Reg Med Ctr CH-49,4800 Sand Point Way NE Seattle WA USA 98105
Citazione:
H.B. Sarnat, "Molecular genetic classification of central nervous system malformations", J CHILD NEU, 15(10), 2000, pp. 675-687

Abstract

Traditional schemes of classifying nervous system malformations are based on descriptive morphogenesis of anatomic processes of ontogenesis, such as neurulation, neuroblast migration, and axonal pathfinding. This proposal isa first attempt to incorporate the recent molecular genetic data that explain programming of development etiologically. A scheme based purely on genetic mutations would not be practical, in part because only in a few dysgeneses are the specific defects known, but also because several genes might beinvolved sequentially and many genes inhibit or augment the expression of others. The same genes serve different functions at different stages and are involved in multiple organ systems. Some complex malformations, such as holoprosencephaly, result from several unrelated defective genes. Finally, apure genetic classification would be too inflexible to incorporate some anatomic criteria. The basis for the proposed scheme is, therefore, disturbances in patterns of genetic expression; polarity gradients of the axes of the neural tube (eg, upregulation or downregulation of genetic influences); segmentation leg, deletions of specific neuromeres, ectopic expression); mutations that cause change in cell lineage (eg, dysplastic gangliocytoma of cerebellum, myofiber differentiation within brain); and specific genes or molecules that mediate neuroblast migration in its early (eg, filamin-l), middle (eg, LIS1, double-cortin), or late course (eg, reelin, LI-CAM). The proposed scheme undoubtedly will undergo many future revisions, but it provides a starting point using currently available data.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 11:21:20