Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology

British Journal of Dermatology

Volumn 167, Issue 1, 2012, Pages 134-144

  Clements, S E ^a   Techanukul, T ^a   Lai Cheong, J E ^a   Mee, J B ^a   South, A P ^b   Pourreyron, C ^b   Burrows, N P ^c   Mellerio, J E ^a   McGrath, John A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF DUNDEE   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DESATURASE 1; ALOX15B PROTEIN; CARCINOEMBRYONIC ANTIGEN RELATED CELL ADHESION MOLECULE 6; COLLAGEN TYPE 7; CYTOKERATIN 14; CYTOKERATIN 25; CYTOKERATIN 27; CYTOKERATIN 31; CYTOKERATIN 33B; CYTOKERATIN 34; CYTOKERATIN 35; CYTOKERATIN 81; ENVELOPE PROTEIN; FRAS1 PROTEIN; GLUTATHIONE PEROXIDASE 3; GLUTATHIONE TRANSFERASE M1; HORNERIN PROTEIN; KALLIKREIN 6; KERATIN; KERATIN TYPE I; KERATIN TYPE II; LIPID TRANSPORTER PROTEIN; MEMBRANE PROTEIN; PROLINE RICH PROTEIN; PROTEIN P63; PYRUVATE DEHYDROGENASE KINASE 4; RETINOL BINDING PROTEIN 4; SOMATOMEDIN BINDING PROTEIN 6; UNCLASSIFIED DRUG; WNT1 INDUCIBLE SIGNALLING PATHWAY 2 PROTEIN; WNT1 INDUCIBLE SIGNALLING PATHWAY 3 PROTEIN;

ADOLESCENT; ADULT; AEC SYNDROME; ARTICLE; BASEMENT MEMBRANE; CELL ADHESION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EPIDERMIS; FEMALE; GENE EXPRESSION; GENE MUTATION; HAIR FOLLICLE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; LASER CAPTURE MICRODISSECTION; LIPID METABOLISM; MALE; MICROARRAY ANALYSIS; PERMEABILITY BARRIER; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SIGNAL TRANSDUCTION; SKIN PERMEABILITY; SKIN STRUCTURE; UPREGULATION;

ADULT; BASEMENT MEMBRANE; CASE-CONTROL STUDIES; CELL PROLIFERATION; CHILD; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; ECTODERMAL DYSPLASIA; EXTRACELLULAR MATRIX PROTEINS; EYE ABNORMALITIES; EYELIDS; FEMALE; GENE EXPRESSION; HAIR; HUMANS; KERATIN-14; LIPID METABOLISM; MALE; MEMBRANE PROTEINS; MICROARRAY ANALYSIS; MUTATION; NAILS;

EID: 84863299509     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2012.10888.x     Document Type: Article

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