Lethal, neonatal ichthyosis with increased proteolytic processing of filaggrin in a mouse model of Netherton syndrome

Human Molecular Genetics

Volumn 14, Issue 2, 2005, Pages 335-346

  Hewett, Duncan R ^a   Simons, Alison L ^a   Mangan, Niamh E ^b   Jolin, Helen E ^a   Green, Shelia M ^a   Fallon, Padraic G ^b   McKenzie, Andrew N J ^a  

^a MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

^b TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; KERATIN; PROFILAGGRIN; SERINE PROTEINASE INHIBITOR; SERINE PROTEINASE INHIBITOR KAZAL TYPE 5; UNCLASSIFIED DRUG;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DEHYDRATION; DISEASE SEVERITY; FEMALE; HUMAN; ICHTHYOSIS; KERATINOCYTE; LETHALITY; MALE; MOLECULAR CLONING; MOUSE; NETHERTON DISEASE; NEWBORN; NEWBORN DEATH; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROCESSING; SKIN PERMEABILITY; SKIN STRUCTURE; STOP CODON; STRATUM CORNEUM; TENSILE STRENGTH; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; GENES, LETHAL; HUMANS; ICHTHYOSIS; INTERMEDIATE FILAMENT PROTEINS; MICE; MOLECULAR SEQUENCE DATA; PROTEIN PROCESSING, POST-TRANSLATIONAL; SERPINS;

EID: 12744274778     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi030     Document Type: Article

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