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Titolo:
Pax3 and the splotch mutations: Structure, function, and relationship to teratogenesis, including gene-chemical interactions
Autore:
Machado, AF; Martin, LJ; Collins, MD;
Indirizzi:
Univ Calif Los Angeles, Sch Publ Hlth, Dept Environm Hlth Sci, Ctr Hlth Sci 56 070, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA
Titolo Testata:
CURRENT PHARMACEUTICAL DESIGN
fascicolo: 9, volume: 7, anno: 2001,
pagine: 751 - 785
SICI:
1381-6128(200106)7:9<751:PATSMS>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEURAL-TUBE DEFECTS; DNA-BINDING ACTIVITY; PAX3-FKHR FUSION PROTEIN; SYNDROME TYPE-I; CELL-ADHESION MOLECULE; B RECEPTOR GENE; WAARDENBURG-HIRSCHSPRUNG-DISEASE; TUMOR ALVEOLAR RHABDOMYOSARCOMA; POSTERIOR NONAXIAL MESODERM; DEVELOPING SKELETAL-MUSCLE;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
292
Recensione:
Indirizzi per estratti:
Indirizzo: Collins, MD Univ Calif Los Angeles, Sch Publ Hlth, Dept Environm Hlth Sci,Ctr Hlth Sci 56 070, Los Angeles, CA 90095 USA Univ Calif Los Angeles LosAngeles CA USA 90095 CA 90095 USA
Citazione:
A.F. Machado et al., "Pax3 and the splotch mutations: Structure, function, and relationship to teratogenesis, including gene-chemical interactions", CUR PHARM D, 7(9), 2001, pp. 751-785

Abstract

The current review focuses on the malformations resulting from mutations in Pax3 and the interactions of Pax(3) mutations with chemically induced teratogenesis, as well as other mutant genes or genetic strains, as a paradigmto illustrate the connections among genetics, protein function, and teratology. Splotch mice result from various mutations involving Pax3, and Waardenburg syndromes I and III in the human are due to mutations in PAX3. The human and murine phenotype/genotype correlations are thus compared and contrasted. The role of Pax3 in normal development, as well as the regulation of Pax(3) expression and DNA binding, are also addressed on the premise that amechanistic understanding of normal developmental processes is prerequisite to full comprehension of the mechanisms by which abnormal development is induced. Pax3 encodes a transcription factor involved in myogenesis, melanogenesis and neurogenesis, as well as regulating genes that may be involved in other cellular processes. The primary goal of this review is to examine the role of a single important developmental gene in the interaction of genetics and abnormal development.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 11/07/20 alle ore 13:51:50