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Titolo:
Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome
Autore:
Whittock, NV; Haftek, M; Angoulvant, N; Wolf, F; Perrot, H; Eady, RAJ; McGrath, JA;
Indirizzi:
St Thomas Hosp, St Johns Inst Dermatol, Dept Cell & Mol Pathol, Sch Med, London SE1 7EH, England St Thomas Hosp London England SE1 7EH , Sch Med, London SE1 7EH, England St Thomas Hosp, Guys Kings Coll, St Johns Inst Dermatol, Dept Cell & Mol Pathol, London, England St Thomas Hosp London England , Dept Cell & Mol Pathol, London, England CNRS, U346, INSERM, Lyon, France CNRS Lyon FranceCNRS, U346, INSERM, Lyon, France Antiquaille Hosp, Dept Dermatol, Lyon, France Antiquaille Hosp Lyon France iquaille Hosp, Dept Dermatol, Lyon, France
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 3, volume: 115, anno: 2000,
pagine: 368 - 374
SICI:
0022-202X(200009)115:3<368:GAOTHP>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
DESMOSOMAL PLAQUE PROTEIN; MULTIGENE FAMILY; ARMADILLO FAMILY; BAND-6 PROTEIN; SKIN FRAGILITY; PLAKOGLOBIN; IDENTIFICATION; MEMBER; CADHERIN; DOMAIN;
Keywords:
cell adhesion; desmosome; genodermatosis; keratinocyte;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Whittock, NV St Thomas Hosp, St Johns Inst Dermatol, Dept Cell & Mol Pathol, Sch Med, Lambeth Palace Rd, London SE1 7EH, England St Thomas Hosp Lambeth Palace Rd London England SE1 7EH land
Citazione:
N.V. Whittock et al., "Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome", J INVES DER, 115(3), 2000, pp. 368-374

Abstract

Ectodermal dysplasia/skin fragility syndrome is a recently described autosomal recessive disease affecting skin, nails, and hair (MIM 604536), that results from mutations in plakophilin 1, a structural component of desmosomes, We report a new plakophilin 1 mutation in an affected patient as well asdetailing the intron-exon organization of the gene to facilitate future polymerase chain reaction-based mutation screening. Using polymerase chain reaction amplification of genomic DNA, we identified 15 exons spanning approximately 50 kb, Direct sequencing disclosed several nonpathogenic intragenicpolymorphisms, as well as a homozygous splice site mutation (1233-2 A-->T;GenBank Z73678) in a 17 y old affected male. The clinical features comprised skin erosions, dystrophic nails, sparse hair, and painful thickening andcracking of palms and soles. Skin biopsy showed negative immunolabeling with an anti-plakophilin 1 antibody and small desmosomes, These results expand the database of plakophilin 1 mutations and demonstrate the importance ofthis protein in the stabilization of desmosomal adhesion in terminally differentiating keratinocytes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/08/20 alle ore 23:00:46