Mutations Leading to X-linked Hypohidrotic Ectodermal Dysplasia Affect Three Major Functional Domains in the Tumor Necrosis Factor Family Member Ectodysplasin-A

Journal of Biological Chemistry

Volumn 276, Issue 22, 2001, Pages 18819-18827

  Schneider, Pascal ^a   Street, Summer L ^d   Gaide, Olivier ^a   Hertig, Sylvie ^a   Tardivel, Aubry ^a   Tschopp, Jürg ^a   Runkel, Laura ^b   Alevizopoulos, Konstantinos ^c   Ferguson, Betsy M ^d   Zonana, Jonathan ^d  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b BIOGEN   (United States)

^c Apotech Corporation   (Switzerland)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; MUTAGENESIS; TUMORS;

SPLICE DONOR SITES;

BIOCHEMISTRY;

COMPLEMENTARY DNA; ECTODYSPLASIN A; ECTODYSPLASIN A1; ECTODYSPLASIN A1 RECEPTOR; ECTODYSPLASIN A2; PROTEIN; RECEPTOR; RECOMBINANT PROTEIN; TUMOR NECROSIS FACTOR; UNCLASSIFIED DRUG; EDA PROTEIN, HUMAN; FURIN; LIGAND; MEMBRANE PROTEIN; SUBTILISIN; TUMOR NECROSIS FACTOR ALPHA;

ARTICLE; CYTOTOXICITY; ECTODERMAL DYSPLASIA; ED1 GENE; EMBRYO; ENZYME LINKED IMMUNOSORBENT ASSAY; FAMILY STUDY; GENE; GENE MUTATION; HAIR; HUMAN; HUMAN CELL; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNOPRECIPITATION; KIDNEY CELL; MAJOR CLINICAL STUDY; MORPHOGENESIS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEGRADATION; RECEPTOR BINDING; SWEAT GLAND; TOOTH; X CHROMOSOME RECESSIVE DISORDER; ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; CELL LINE; CHEMISTRY; DIMERIZATION; DOSE RESPONSE; EXON; GEL CHROMATOGRAPHY; GENETIC LINKAGE; GENETICS; GLYCOSYLATION; INTRON; METABOLISM; MOLECULAR GENETICS; MUTATION; PHENOTYPE; PROTEIN BINDING; PROTEIN TERTIARY STRUCTURE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SERODIAGNOSIS; STRUCTURE ACTIVITY RELATION; X CHROMOSOME;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; CELL LINE; CHROMATOGRAPHY, GEL; DIMERIZATION; DOSE-RESPONSE RELATIONSHIP, DRUG; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; ENZYME-LINKED IMMUNOSORBENT ASSAY; EXONS; FURIN; GLYCOSYLATION; HUMANS; INTRONS; LIGANDS; LINKAGE (GENETICS); MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PRECIPITIN TESTS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; SEQUENCE ANALYSIS, PROTEIN; SEQUENCE HOMOLOGY, AMINO ACID; STRUCTURE-ACTIVITY RELATIONSHIP; SUBTILISINS; TUMOR NECROSIS FACTOR-ALPHA; X CHROMOSOME;

EID: 0035379554     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M101280200     Document Type: Article

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