A new case of keratin 14 functional knockout causes severe recessive ebs and questions the haploinsufficiency model of naegeli-franceschetti-jadassohn syndrome

Journal of Investigative Dermatology

Volumn 131, Issue 10, 2011, Pages 2131-2133

  Titeux, Matthias ^a,b   Décha, Audrey ^a,c   Pironon, Nathalie ^a,b   Tonasso, Laure ^c   Gasc, Géraldine ^a,c   Mejía, José Enrique ^a,c   Prost Squarcioni, Catherine ^d   Hovnanian, Alain ^a,b,e  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITÉ PAUL SABATIER   (France)

^d UNIVERSITÉ PARIS 13   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 15; CYTOKERATIN 5; DNA; GENOMIC DNA; MESSENGER RNA; UNTRANSLATED RNA;

5' UNTRANSLATED REGION; ADULT; AUTOSOMAL DOMINANT DISORDER; BASAL CELL; CASE REPORT; CAUCASIAN; CELL DIVISION; CHILD; CONFOCAL LASER MICROSCOPY; CYTOPLASM; DNA DETERMINATION; DNA SEQUENCE; ECTODERMAL DYSPLASIA; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA SIMPLEX; EXON; FRAMESHIFT MUTATION; FRANCE; GENE DELETION; GENE INACTIVATION; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; LETTER; LEUKOCYTE; MALE; MUSCLE FIBRIL; MYOFILAMENT; NAEGELI FRANCESCHETTI JADASSOHN SYNDROME; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN BIOPSY; STOP CODON; WESTERN BLOTTING;

EID: 80052825482     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2011.166     Document Type: Letter

References (9)

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