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Titolo:
MUTATIONS IN THE PLAKOPHILIN-1 GENE RESULT IN ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME
Autore:
MCGRATH JA; MCMILLAN JR; SHEMANKO CS; RUNSWICK SK; LEIGHT IM; LANE EB; GARROD DR; EADY RAJ;
Indirizzi:
UNITED MED & DENT SCH GUYS & ST THOMAS HOSP,ST THOMAS HOSP,ST JOHNS INST DERMATOL LONDON SE1 7EH ENGLAND UNIV DUNDEE,DEPT PHYSIOL & ANAT,CANC RES CAMPAIGN LABS,CELL STRUCT RES GRP DUNDEE DD1 4HN SCOTLAND UNIV MANCHESTER,SCH BIOL SCI MANCHESTER M13 9PT LANCS ENGLAND UNIV LONDON QUEEN MARY & WESTFIELD COLL,ST BARTHOLOMEWS & ROYAL LONDON SCH MED & DENT LONDON E1 2AT ENGLAND
Titolo Testata:
Nature genetics
fascicolo: 2, volume: 17, anno: 1997,
pagine: 240 - 244
SICI:
1061-4036(1997)17:2<240:MITPGR>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
DESMOSOMAL PLAQUE PROTEIN; BETA-CATENIN; STRATIFIED EPITHELIA; MONOCLONAL-ANTIBODY; MULTIGENE FAMILY; BAND-6 PROTEIN; PLAKOGLOBIN; DIFFERENTIATION; DESMOPLAKIN; COMPONENTS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
J.A. Mcgrath et al., "MUTATIONS IN THE PLAKOPHILIN-1 GENE RESULT IN ECTODERMAL DYSPLASIA SKIN FRAGILITY SYNDROME", Nature genetics, 17(2), 1997, pp. 240-244

Abstract

Members of the armadillo protein gene family, which includes plakoglobin and beta-catenin, have important functions in cytoskeleton/cell membrane interactions(1,2). These proteins may act as linker molecules at adherens junctions and desmosomes at the plasma membrane(3); in addition, they may have pivotal roles in signal transduction pathways and significant effects on cell behaviour during development(4-7). Here, we describe the first human mutations in one of these dual function proteins, plakophilin 1 (band-6 protein; refs 8-10). The affected individual has a complete absence of immunostaining for plakophilin 1 in the skin and is a compound heterozygote for autosomal-recessively inherited premature termination codons of translation on both alleles of the plakophilin 1 gene (PKP1). Clinically, there are features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions. The molecular findings and clinical observations in this patient attest to the dual importance of plakophilin 1 in both cutaneous cell-cell adhesion and epidermal morphogenesis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 11:38:07