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Titolo:
THE GAP-RELATED DOMAIN OF TUBERIN, THE PRODUCT OF THE TSC2 GENE, IS ATARGET FOR MISSENSE MUTATIONS IN TUBEROUS SCLEROSIS
Autore:
MAHESHWAR MM; CHEADLE JP; JONES AC; MYRING J; FRYER AE; HARRIS PC; SAMPSON JR;
Indirizzi:
UNIV WALES COLL MED,INST MED GENET CARDIFF CF4 4XN S GLAM WALES UNIV WALES COLL MED,INST MED GENET CARDIFF CF4 4XN S GLAM WALES ROYAL LIVERPOOL UNIV HOSP LIVERPOOL L69 3BX MERSEYSIDE ENGLAND JOHN RADCLIFFE HOSP,INST MOL MED,MRC,MOL HAEMATOL UNIT OXFORD OX3 9DUENGLAND
Titolo Testata:
Human molecular genetics
fascicolo: 11, volume: 6, anno: 1997,
pagine: 1991 - 1996
SICI:
0964-6906(1997)6:11<1991:TGDOTT>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
IDENTIFICATION; DISEASE; COMPLEX; FAMILY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
M.M. Maheshwar et al., "THE GAP-RELATED DOMAIN OF TUBERIN, THE PRODUCT OF THE TSC2 GENE, IS ATARGET FOR MISSENSE MUTATIONS IN TUBEROUS SCLEROSIS", Human molecular genetics, 6(11), 1997, pp. 1991-1996

Abstract

Tuberous sclerosis is an autosomal dominant trait in which the dysregulation of cellular proliferation and differentiation results in the development of hamartomatous growths in many organs, The TSC2 gene is one of two genes determining tuberous sclerosis, Inactivating germline mutations of TSC2 in patients with tuberous sclerosis and somatic lossof heterozygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour suppressor gene and that loss of function is critical to expression of the tuberous sclerosis phenotype, The TSC2 product, tuberin, has a region of homology with the GTPase activating protein rap1GAP and stimulates the GTPase activity of rap1aand rab5a in vitro, Here we show that the region of homology between tuberin and human rap1 GAP and the murine GAP mSpa1 is more extensive than previously reported and spans similar to 160 amino acid residues encoded within exons 34-38 of the TSC2 gene, Single strand conformation polymorphism analysis of these exons in 173 unrelated patients with tuberous sclerosis and direct sequencing of variant conformers together with study of additional family members enabled characterisation of disease associated mutations in 14 cases, Missense mutations, which occurred in exons 36, 37 and 38 were identified in eight cases, four of whom shared the same recurrent change P1675L, Each of the five different missense mutations identified was shown to occur de novo in at least one sporadic case of tuberous sclerosis, The high proportion of missense mutations detected in the region of the TSC2 gene encoding the GAP-related domain supports its key role in the regulation of cellular growth.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/01/21 alle ore 15:58:09