Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression

American Journal of Pathology

Volumn 171, Issue 1, 2007, Pages 153-161

  Stoffel, Wilhelm ^a   Jenke, Britta ^c   Holz, Barbara ^c   Binczek, Erika ^c   Günter, Robert Heinz ^c   Knifka, Jutta ^a   Koebke, Jürgen ^a   Niehoff, Anja ^b  

^a UNIVERSITY OF COLOGNE   (Germany)

^b Institute of Biomechanics and Orthopaedics   (Germany)

^c Deutsche Sporthoch schule Köln ^*

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 3; HYPOPHYSIS HORMONE; MUTANT PROTEIN; NEUTRAL SPHINGOMYELINASE SMPD3; SPHINGOMYELIN PHOSPHODIESTERASE; UNCLASSIFIED DRUG; COL2A1 PROTEIN, MOUSE; COLLAGEN TYPE 2; SMPD3 PROTEIN, MOUSE;

ACHONDROPLASIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE DEVELOPMENT; BONE DYSPLASIA; BONE GROWTH; CARTILAGE CELL; CHONDRODYSPLASIA; CONTROLLED STUDY; DWARFISM; ENCHONDRAL OSSIFICATION; ENZYME DEFICIENCY; EPIPHYSIS PLATE; FEMALE; GENE EXPRESSION; HORMONE DEFICIENCY; HYPOTHALAMUS HYPOPHYSIS SYSTEM; MALE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; TRANSGENE; ANIMAL; GENETICS; GROWTH; HEREDITARY MULTIPLE EXOSTOSIS; MOUSE; MOUSE MUTANT; PHYSIOLOGY;

ANIMALS; BONE DEVELOPMENT; COLLAGEN TYPE II; DWARFISM; EXOSTOSES, MULTIPLE HEREDITARY; GROWTH; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; MICE; MICE, KNOCKOUT; OSTEOCHONDRODYSPLASIAS; SPHINGOMYELIN PHOSPHODIESTERASE; TRANSGENES;

EID: 34547653109     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.2353/ajpath.2007.061285     Document Type: Article

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