Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa

Journal of Biological Chemistry

Volumn 287, Issue 26, 2012, Pages 22055-22067

  Sugitani, Hideki ^a   Hirano, Eiichi ^a   Knutsen, Russell H ^a   Shifren, Adrian ^a   Wagenseil, Jessica E ^b   Ciliberto, Christopher ^a   Kozel, Beth A ^a   Urban, Zsolt ^c   Davis, Elaine C ^d   Broekelmann, Thomas J ^a   Mecham, Robert P ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Saint Louis University   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^d MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ADVERSE EFFECT; ALTERNATIVE SPLICING; AUTOSOMAL DOMINANTS; BACTERIAL ARTIFICIAL CHROMOSOMES; BIOLOGICAL MODIFIERS; C-TERMINAL REGIONS; DISEASE SEVERITY; ELASTIC FIBER; ELASTIC RECOIL; EXTRACELLULAR MATRIX PROTEIN; FRAME-SHIFT MUTATION; GENE MUTATIONS; HUMAN ELASTIN; LOW LEVEL; MUTANT PROTEINS; NON-HUMAN ANIMALS; NONSENSE-MEDIATED DECAY; PATHOPHYSIOLOGY; RNA STABILITY; TISSUE FUNCTION; TRANSGENE; TROPOELASTIN; VASCULATURE;

ANIMALS; BIOLOGICAL ORGANS; BLOOD VESSELS; ELASTICITY; GENES; RNA; TISSUE;

GLYCOPROTEINS;

ELASTIN; MUTANT PROTEIN; RNA; TROPOELASTIN;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BACTERIAL ARTIFICIAL CHROMOSOME; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; CUTIS LAXA; DISEASE SEVERITY; ELASTIC FIBER; ELASTIN GENE; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC ENGINEERING; HUMAN; LUNG PARENCHYMA; MOUSE; NEWBORN; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RNA STABILITY; SIGNAL TRANSDUCTION; SKIN; TISSUE SPECIFICITY; TRANSGENE;

ALTERNATIVE SPLICING; ANIMALS; AORTA; CHROMOSOMES, ARTIFICIAL, BACTERIAL; CROSS-LINKING REAGENTS; CUTIS LAXA; ELASTICITY; ELASTIN; EXONS; FIBROBLASTS; FRAMESHIFT MUTATION; GENES, DOMINANT; HUMANS; MICE; MICE, TRANSGENIC; MUTATION; PROTEIN STRUCTURE, TERTIARY; RNA; TRANSGENES;

EID: 84862680030     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M111.327940     Document Type: Article

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