Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
BTKBASE, MUTATION DATABASE FOR X-LINKED AGAMMAGLOBULINEMIA (XLA)
Autore:
VIHINEN M; BELOHRADSKY BH; HAIRE RN; HOLINSKIFEDER E; KWAN SP; LAPPALAINEN I; LEHVASLAIHO H; LESTER T; MEINDL A; OCHS HD; OLLILA J; VORECHOVSKY I; WEISS M; SMITH CIE;
Indirizzi:
UNIV HELSINKI,DEPT BIOSCI,DIV BIOCHEM,POB 56 FIN-00014 HELSINKI FINLAND UNIV MUNICH,KLINIKUM INNENSTADT,DR VON HAUNERCHES KINDERSPITAL,ABT INFEKT IMMUNOL D-80337 MUNICH GERMANY UNIV S FLORIDA,ALL CHILDRENS HOSP,COLL MED,DEPT PEDIAT ST PETERSBURG FL 33701 UNIV MUNICH,KLINIKUM INNENSTADT,ABT PADIAT GENET,KINDERPOLIKLIN D-80335 MUNICH GERMANY RUSH MED SCH,DEPT IMMUNOL CHICAGO IL 60612 CSC SOC COMP ESPOO 02101 FINLAND INST CHILD HLTH,CLIN GENET UNIT LONDON WC1N 1EH ENGLAND UNIV WASHINGTON,DEPT PAEDIAT SEATTLE WA 98195 KAROLINSKA INST,NOVUM,CTR BIOTECHNOL,DEPT BIOSCI S-14157 HUDDINGE SWEDEN HUDDINGE UNIV HOSP,KAROLINSKA INST,DEPT IMMUNOL MICROBIOL PATHOL & INFECT DIS S-14186 HUDDINGE SWEDEN
Titolo Testata:
Nucleic acids research
fascicolo: 1, volume: 25, anno: 1997,
pagine: 166 - 171
SICI:
0305-1048(1997)25:1<166:BMDFXA>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
TYROSINE KINASE GENE; PLECKSTRIN HOMOLOGY DOMAIN; BETA-GAMMA-SUBUNITS; GENOMIC ORGANIZATION; STRUCTURAL BASIS; PH DOMAIN; BTK GENE; DISEASE; BINDING; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
56
Recensione:
Indirizzi per estratti:
Citazione:
M. Vihinen et al., "BTKBASE, MUTATION DATABASE FOR X-LINKED AGAMMAGLOBULINEMIA (XLA)", Nucleic acids research, 25(1), 1997, pp. 166-171

Abstract

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the databaselists also some polymorphisms and site-directed mutations. Each patient is given a unique patient identity number (PIN). Information is provided regarding the phenotype including symptoms. Mutations in all thefive domains of BTK have been noticed to cause the disease, the most common event being missense mutations, The mutations appear almost uniformly throughout the molecule and frequently affect CpG sites formingarginine residues. These hot spots have generally pyrimidines 5' and purines 3' to the mutated cytosine. A decreased frequency of missense mutations was found in the TH, SH3 and the upper lobe of the kinase domain, The putative structural implications of all the missense mutations are given in the database showing 228 unique molecular events, including a novel missense mutation causing an R28C substitution as previously seen in the Xid mouse.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/10/20 alle ore 20:56:12