Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1
Autore:
McGrath, JA; Hoeger, PH; Christiano, AM; McMillan, JR; Mellerio, JE; Ashton, GHS; Dopping-Hepenstal, PJC; Lake, BD; Leigh, IM; Harper, JI; Eady, RAJ;
Indirizzi:
GuyssKings Coll & St Thomas Hosp, Sch Med, Dept Cell & Mol Pathol, St Thoma Guys Kings Coll & St Thomas Hosp London England SE1 7EH Pathol, St Thoma Hosp Sick Children, Dept Dermatol, London WC1N 3JH, England Hosp Sick Children London England WC1N 3JH tol, London WC1N 3JH, England Hosp Sick Children, Dept Histopathol, London WC1N 3JH, England Hosp Sick Children London England WC1N 3JH hol, London WC1N 3JH, England Columbia Univ Coll Phys & Surg, Dept Dermatol, New York, NY USA Columbia Univ Coll Phys & Surg New York NY USA ermatol, New York, NY USA StEnglandlomews & Royal London Sch Med & Dent, Acad Dept Dermatol, London,St Bartholomews & Royal London Sch Med & Dent London England l, London,
Titolo Testata:
BRITISH JOURNAL OF DERMATOLOGY
fascicolo: 2, volume: 140, anno: 1999,
pagine: 297 - 307
SICI:
0007-0963(199902)140:2<297:SFAHED>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
INTERMEDIATE FILAMENT NETWORKS; DESMOSOMAL PLAQUE PROTEIN; BETA-CATENIN; CELL-ADHESION; EPIDERMOLYSIS-BULLOSA; STRATIFIED EPITHELIA; SIGNAL-TRANSDUCTION; MONOCLONAL-ANTIBODY; PEMPHIGUS-VULGARIS; COMPLEX EPITHELIA;
Keywords:
autosomal recessive; congenital ectodermal dysplasia; desmosomes; inherited skin disorder; keratin filament cytoskeleton; plakophilin 1; skin fragility;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
62
Recensione:
Indirizzi per estratti:
Indirizzo: McGrath, JA GuyssKings Coll & St Thomas Hosp, Sch Med, Dept Cell & Mol Pathol, St Thoma Guys Kings Coll & St Thomas Hosp London England SE1 7EH homa
Citazione:
J.A. McGrath et al., "Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1", BR J DERM, 140(2), 1999, pp. 297-307

Abstract

We report a 2-year-old boy with an unusual autosomal recessively inheritedskin disease comprising trauma-induced skin fragility and congenital ectodermal dysplasia affecting hair, nails and sweat glands. Skin biopsy showed widening of intercellular spaces between keratinocytes and ultrastructural findings of small, poorly formed desmosomes with reduced connections to thekeratin filament cytoskeleton, Immunohistochemical analysis revealed a complete absence of staining for the accessory desmosomal plaque protein plakophilin 1 (PKP1; band 6 protein). The affected individual was a compound heterozygote for null mutations on both alleles of the PKP1 gene. Both mutations occurred within the amino terminus of PKP1, the domain which normally binds the cytoskeletal keratin filament network to the cell membrane. Apart from its localization within desmosomal plaques, PKP1 may also be present within the cytoplasm and nucleus and has putative roles in signal transduction and regulation of gene activity. The clinicopathological observations in this patient demonstrate the relevance of PKP1 to desmosome formation, cutaneous cell-cell adhesion and epidermal development and demonstrate the specific manifestations of human functional knockout mutations in this gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 15:45:55