Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Korvala, Johanna ^a   Jüppner, Harald ^b   Mäkitie, Outi ^c   Sochett, Etienne ^d   Schnabel, Dirk ^e   Mora, Stefano ^f   Bartels, Cynthia F ^g   Warman, Matthew L ^h   Deraska, Donald ⁱ   Cole, William G ^d   Hartikka, Heini ^a,j   Ala Kokko, Leena ^a,k   Männikkö, Minna ^a  

^a UNIVERSITY OF OULU   (Finland)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f SAN RAFFAELE HOSPITAL   (Italy)

^g CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h BOSTON CHILDREN S HOSPITAL   (United States)

ⁱ Winchester Hospital   (United States)

^j NORTH KARELIA CENTRAL HOSPITAL   (Finland)

^k Connective Tissue Gene Tests ^*  (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5; SEROTONIN; TRYPTOPHAN HYDROXYLASE; TRYPTOPHAN HYDROXYLASE 1; UNCLASSIFIED DRUG; WNT PROTEIN; LRP5 PROTEIN, HUMAN; SEROTONIN RECEPTOR; TPH1 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BONE DENSITY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; GENE SEQUENCE; HUMAN; IN VITRO STUDY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; OSSIFICATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE; PRIMARY OSTEOPOROSIS; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; SPINAL CORD COMPRESSION; ANIMAL; CHO CELL; CRICETULUS; GENETIC TRANSFECTION; GENETICS; HAMSTER; HETEROZYGOTE; METABOLISM; OSTEOPOROSIS; REPORTER GENE; WNT SIGNALING PATHWAY;

ANIMALS; BONE DENSITY; CHO CELLS; CRICETINAE; CRICETULUS; GENES, REPORTER; HETEROZYGOTE; HUMANS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-5; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; OSTEOPOROSIS; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION; RECEPTORS, SEROTONIN; SEROTONIN; TRANSFECTION; TRYPTOPHAN HYDROXYLASE; WNT PROTEINS; WNT SIGNALING PATHWAY;

EID: 84859512183     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-26     Document Type: Article

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