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Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement
AD Letocha et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2005)
Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling
M Ai et al.
MOLECULAR AND CELLULAR BIOLOGY (2005)
OASIS, a CREB/ATF-family member, modulates UPR signalling in astrocytes
S Kondo et al.
NATURE CELL BIOLOGY (2005)
Osteogenesis imperfecta in childhood: Impairment and disability. A prospective study with 4-year follow-up
RH Engelbert et al.
ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION (2004)
Bone morphogenetic protein-1/tolloid-like proteinases process dentin matrix protein-1
BM Steiglitz et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Bone morphogenetic protein-1/Tolloid-related metalloproteinases process osteoglycin and enhance its ability to regulate collagen fibrillogenesis
GX Ge et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
The Wnt signaling pathway in development and disease
CY Logan et al.
ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY (2004)
Radiographic analysis of zebrafish skeletal defects
S Fisher et al.
DEVELOPMENTAL BIOLOGY (2003)
High bone mass in mice expressing a mutant LRP5 gene
P Babij et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2003)
Mesd encodes an LRP5/6 chaperone essential for specification of mouse embryonic polarity
JC Hsieh et al.
CELL (2003)
High bone density due to a mutation in LDL-receptor-related protein 5
LM Boyden et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
OASIS is a transcriptional activator of CREB/ATF family with a transmembrane domain
Y Omori et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2002)
Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor
M Kato et al.
JOURNAL OF CELL BIOLOGY (2002)
Osteogenesis imperfecta type VI: A form of brittle bone disease with a mineralization defect
FH Glorieux et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2002)
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
YQ Gong et al.
CELL (2001)
Disruption of one intra-chain disulphide bond in the carboxyl-terminal propeptide of the proα1(I) chain of type I procollagen permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta
JM Pace et al.
JOURNAL OF MEDICAL GENETICS (2001)
Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures
MI Uzel et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs
J Ye et al.
MOLECULAR CELL (2000)
Bone morphogenetic protein-1 processes probiglycan
IC Scott et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Type V osteogenesis imperfecta: A new form of brittle bone disease
FH Glorieux et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2000)
Hearing loss in children with osteogenesis imperfecta
K Kuurila et al.
EUROPEAN JOURNAL OF PEDIATRICS (2000)
Static and dynamic bone histomorphometry in children with osteogenesis imperfecta
F Rauch et al.
BONE (2000)
Regulated intramembrane proteolysis: A control mechanism conserved from bacteria to humans
MS Brown et al.
CELL (2000)
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