Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy

Human Molecular Genetics

Volumn 15, Issue 6, 2006, Pages 839-851

  Correa Cerro, Lina S ^a   Wassif, Christopher A ^a   Kratz, Lisa ^c   Miller, Georgina F ^b   Munasinghe, Jeeva P ^b   Grinberg, Alexander ^b   Fliesler, Steven J ^d   Porter, Forbes D ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; SIMVASTATIN;

ANALYSIS OF VARIANCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BEHAVIOR DISORDER; BLOOD BRAIN BARRIER; BRAIN TISSUE; BRAIN VENTRICLE DILATATION; CELL CULTURE; CELL STRAIN 3T3; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL INTAKE; DIET SUPPLEMENTATION; DISEASE ASSOCIATION; DRUG EFFICACY; ENZYME ACTIVITY; FEMALE; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENE MUTATION; GENETIC DISORDER; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; LEARNING DISORDER; MOUSE; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; SMITH LEMLI OPITZ SYNDROME; SYNDACTYLY;

3T3 CELLS; ALLELES; AMINO ACID SUBSTITUTION; ANIMALS; CELLS, CULTURED; CROSSES, GENETIC; DISEASE MODELS, ANIMAL; EMBRYONIC STEM CELLS; FEMALE; MAGNETIC RESONANCE SPECTROSCOPY; METHIONINE; MICE; MICE, INBRED C57BL; MUTAGENESIS, SITE-DIRECTED; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; PHENOTYPE; SIMVASTATIN; SMITH-LEMLI-OPITZ SYNDROME; THREONINE;

ANIMALIA;

EID: 33644769281     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl003     Document Type: Article

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