The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: A spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia

Blood

Volumn 115, Issue 6, 2010, Pages 1267-1276

  Chase, Thomas H ^a   Lyons, Bonnie L ^a   Bronson, Roderick T ^a   Foreman, Oded ^a   Donahue, Leah Rae ^a   Burzenski, Lisa M ^a   Gott, Bruce ^a   Lane, Priscilla ^a   Harris, Belinda ^a   Ceglarek, Uta ^b   Thiery, Joachim ^b   Wittenburg, Henning ^b   Thon, Jonathan N ^c   Italiano Jr , Joseph E ^c   Johnson, Kenneth R ^a   Shultz, Leonard D ^a  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY OF LEIPZIG   (Germany)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ADENOSINE TRIPHOSPHATE BINDING CASSETTE SUBFAMILY G MEMBER 5; ADENOSINE TRIPHOSPHATE BINDING CASSETTE SUBFAMILY G MEMBER 8; PHYTOSTEROL; TRYPTOPHAN; UNCLASSIFIED DRUG; ABCG5 PROTEIN, HUMAN; ABCG5 PROTEIN, MOUSE; ABCG8 PROTEIN, HUMAN; LIPOPROTEIN; SITOSTEROL DERIVATIVE;

ANEMIA; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BLEEDING TIME; CARDIOMYOPATHY; CELL SIZE; CHROMOSOME 17; CHROMOSOME 2P; CODON; CONTROLLED STUDY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; EXON; FEMALE; FUNCTIONAL DISEASE; GENE; GENE MAPPING; GENETIC DISORDER; HEMATOPOIETIC STEM CELL; HOMOZYGOTE; HUMAN CHROMOSOME; INFERTILITY; LEUKOPENIA; LIFESPAN; LIPID BLOOD LEVEL; MALE; MEGAKARYOCYTE; MEMBRANE; MICROENVIRONMENT; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYPLOIDY; PRIORITY JOURNAL; SITOSTEROLEMIA; SPONTANEOUS MUTATION; STOP CODON; THROMBOCYTE ACTIVATION; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE STRUCTURE; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; THROMBOCYTOPENIA AND CARDIOMYOPATHY GENE; TRANSGENIC MOUSE; A J MOUSE; ANIMAL; BAGG ALBINO MOUSE; C57BL MOUSE; CELL CULTURE; CLONOGENIC ASSAY; CROSS BREEDING; CYTOLOGY; DISEASE MODEL; FETUS; GENETICS; LIVER; METABOLISM; MOUSE MUTANT; MUTATION; PATHOLOGY; PHYSIOLOGY;

ANIMALS; ATP-BINDING CASSETTE TRANSPORTERS; BLEEDING TIME; CARDIOMYOPATHIES; CELLS, CULTURED; COLONY-FORMING UNITS ASSAY; CROSSES, GENETIC; DISEASE MODELS, ANIMAL; FEMALE; FETUS; LIPID METABOLISM, INBORN ERRORS; LIPOPROTEINS; LIVER; MALE; MEGAKARYOCYTES; MICE; MICE, INBRED A; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, KNOCKOUT; MICE, TRANSGENIC; MUTATION; PHYTOSTEROLS; SITOSTEROLS; THROMBOCYTOPENIA;

EID: 77949494996     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2009-05-219808     Document Type: Article

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