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Titolo:
A SPECTRUM OF MUTATIONS IN THE 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (PKD2)
Autore:
VELDHUISEN B; SARIS JJ; DEHAIJ S; HAYASHI T; REYNOLDS DM; MOCHIZUKI T; ELLES R; FOSSDAL R; BOGDANOVA N; VANDIJK MA; COTO E; RAVINE D; NORBY S; VERELLENDUMOULIN C; BREUNING MH; SOMLO S; PETERS DJM;
Indirizzi:
LEIDEN UNIV,DEPT HUMAN GENET,SYLVIUS LAB,POB 9503 NL-2300 RA LEIDEN NETHERLANDS LEIDEN UNIV,DEPT HUMAN GENET,SYLVIUS LAB NL-2300 RA LEIDEN NETHERLANDS UNIV LEIDEN HOSP,DEPT NEPHROL NL-2300 RC LEIDEN NETHERLANDS ALBERT EINSTEIN COLL MED,DIV NEPHROL NEW YORK NY 00000 ST MARYS HOSP,DEPT MED GENET MANCHESTER M13 0JH LANCS ENGLAND UNIV ICELAND,FAC MED REYKJAVIK ICELAND UNIV MUNSTER,INST HUMAN GENET D-4400 MUNSTER GERMANY HOSP CENT ASTURIAS,SERV IMMUNOL OVIEDO SPAIN UNIV WALES HOSP,INST MED GENET CARDIFF CF4 4XN S GLAM WALES INST FORENS MED COPENHAGEN DENMARK UNIV CATHOLIQUE LOUVAIN,UNITE GENET MED BRUSSELS BELGIUM
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 61, anno: 1997,
pagine: 547 - 555
SICI:
0002-9297(1997)61:3<547:ASOMIT>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYCYSTIC-KIDNEY-DISEASE-1 PKD1; NONSENSE MUTATION; INTRACRANIAL ANEURYSMS; SPLICING MUTATIONS; RENAL-DISEASE; 2ND GENE; HETEROGENEITY; FAMILY; LOCALIZATION; RECOGNITION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
46
Recensione:
Indirizzi per estratti:
Citazione:
B. Veldhuisen et al., "A SPECTRUM OF MUTATIONS IN THE 2ND GENE FOR AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (PKD2)", American journal of human genetics, 61(3), 1997, pp. 547-555

Abstract

Recently the second gene for autosomal dominant poly-cystic kidney disease (ADPKD), located on chromosome 4q21-q22, has been cloned and characterized. The gene encodes an integral membrane protein, polycystin-2, that shows amino acid similarity to the PKD1 gene product and to the family of voltage-activated calcium (and sodium) channels. We have systematically screened the gene for mutations by single-strand conformation-poly-morphism analysis in 35 families with the second type of ADPKD and have identified 20 mutations. So far, most mutations found seem to be unique and occur throughout the gene, without any evidence of clustering. In addition to small deletions, insertions, and substitutions leading to premature translation stops, one amino acid substitution and five possible splice-site mutations have been found. These findings suggest that the first step toward cyst formation in PKD2 patientsis the loss of one functional copy of polycystin-2.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/06/20 alle ore 23:39:19