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Titolo:
Pax3 is required for enteric ganglia formation and functions with Sox10 tomodulate expression of c-ret
Autore:
Lang, D; Chen, F; Milewski, R; Li, J; Lu, MM; Epstein, JA;
Indirizzi:
Univ Penn, Dept Med, Div Cardiovasc, Philadelphia, PA 19104 USA Univ PennPhiladelphia PA USA 19104 ardiovasc, Philadelphia, PA 19104 USA
Titolo Testata:
JOURNAL OF CLINICAL INVESTIGATION
fascicolo: 8, volume: 106, anno: 2000,
pagine: 963 - 971
SICI:
0021-9738(200010)106:8<963:PIRFEG>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
WAARDENBURG-HIRSCHSPRUNG-DISEASE; MICE LACKING GDNF; TRANSCRIPTION FACTOR BSAP; RECEPTOR TYROSINE KINASE; ACHAETE-SCUTE HOMOLOG-1; ENDOTHELIN-B RECEPTOR; DOMAIN-DNA COMPLEX; PAIRED DOMAIN; NEURONAL DEVELOPMENT; CRYSTAL-STRUCTURE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
61
Recensione:
Indirizzi per estratti:
Indirizzo: Epstein, JA 954 BRB II,421 Curie Blvd, Philadelphia, PA 19104 USA 954 BRBII,421 Curie Blvd Philadelphia PA USA 19104 19104 USA
Citazione:
D. Lang et al., "Pax3 is required for enteric ganglia formation and functions with Sox10 tomodulate expression of c-ret", J CLIN INV, 106(8), 2000, pp. 963-971

Abstract

Hirschsprung disease and Waardenburg syndrome are human genetic diseases characterized by distinct neural crest defects. Patients with Hirschsprung disease suffer from gastrointestinal motility disorders, whereas Waardenburgsyndrome consists of defective melanocyte function, deafness, and craniofacial abnormalities. Mutations responsible for Hirschsprung disease and Waardenburg syndrome have been identified, and some patients have been described with characteristics of both disorders. Here, we demonstrate that PAX3, which is often mutated in Waardenburg syndrome, is required for normal enteric ganglia formation. Pax3 can bind to and activate expression of the c-RETgene, which is often mutated in Hirschsprung disease. Pax3 functions with Sox10 to activate transcription of c-RET, and SOX10 mutations result in Waardenburg-Hirschsprung syndrome. Thus, Pax3, Sox10, and c-Ret are componentsof a neural crest development pathway, and interruption of this pathway atvarious stages results in neural crest-related human genetic syndromes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/09/20 alle ore 21:54:42