Published in J Biol Chem on November 08, 2001
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms. Blood (2012) 1.14
Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants. Hum Mutat (2011) 0.80
Biochemical screening of type I collagen in osteogenesis imperfecta: detection of glycine substitutions in the amino end of the alpha chains requires supplementation by molecular analysis. J Med Genet (2006) 0.80
Actinidain-hydrolyzed type I collagen reveals a crucial amino acid sequence in fibril formation. J Biol Chem (2010) 0.76
Prospects and limitations of improving skeletal growth in a mouse model of spondyloepiphyseal dysplasia caused by R992C (p.R1192C) substitution in collagen II. PLoS One (2017) 0.75
New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol (2011) 3.97
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat (2007) 3.93
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet (2007) 3.84
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med (2006) 2.97
Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen. J Biol Chem (2001) 2.88
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med (2010) 2.44
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates. J Biol Chem (2008) 1.92
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N Engl J Med (2014) 1.89
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. Hum Mutat (2011) 1.77
XX males SRY negative: a confirmed cause of infertility. J Med Genet (2011) 1.75
Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta. J Bone Miner Res (2013) 1.73
Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. J Invest Dermatol (2009) 1.62
Structural heterogeneity of type I collagen triple helix and its role in osteogenesis imperfecta. J Biol Chem (2007) 1.60
Direct quantification of the flexibility of type I collagen monomer. Biochem Biophys Res Commun (2002) 1.56
Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength. J Bone Miner Res (2004) 1.47
Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem (2005) 1.37
Tumor immunotherapy by epicutaneous immunization requires langerhans cells. J Immunol (2008) 1.31
Perlecan domain V is neuroprotective and proangiogenic following ischemic stroke in rodents. J Clin Invest (2011) 1.31
Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement. J Bone Miner Res (2005) 1.30
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix. Hum Mutat (2012) 1.25
Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix. J Biol Chem (2006) 1.24
The D2 period of collagen II contains a specific binding site for the human discoidin domain receptor, DDR2. J Mol Biol (2004) 1.23
Alendronate treatment of the brtl osteogenesis imperfecta mouse improves femoral geometry and load response before fracture but decreases predicted material properties and has detrimental effects on osteoblasts and bone formation. J Bone Miner Res (2009) 1.21
Mapping of SPARC/BM-40/osteonectin-binding sites on fibrillar collagens. J Biol Chem (2008) 1.21
Current and emerging treatments for the management of osteogenesis imperfecta. Ther Clin Risk Manag (2010) 1.21
Near-infrared fluorescent probe traces bisphosphonate delivery and retention in vivo. J Bone Miner Res (2010) 1.14
Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. J Bone Miner Res (2008) 1.12
Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI. Matrix Biol (2007) 1.09
Nanoscale morphology of Type I collagen is altered in the Brtl mouse model of Osteogenesis Imperfecta. J Struct Biol (2010) 1.08
Inefficient presentation of tumor-derived antigen by tumor-infiltrating dendritic cells. Cancer Immunol Immunother (2008) 1.08
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med (2012) 1.08
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet (2009) 1.07
Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol (2006) 1.07
Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation. Am J Med Genet A (2008) 1.05
Stretching type II collagen with optical tweezers. J Biomech (2004) 1.02
High-affinity binding of the NC1 domain of collagen VII to laminin 5 and collagen IV. Biochem Biophys Res Commun (2006) 1.02
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. J Biol Chem (2010) 1.01
Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta. Proteomics (2007) 1.01
Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy. Stem Cells (2012) 1.00
Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis. Hum Mutat (2008) 1.00
Glycosaminoglycans show a specific periodic interaction with type I collagen fibrils. J Struct Biol (2008) 0.98
Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. Hum Mutat (2007) 0.98
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. Am J Hum Genet (2004) 0.98
Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model. J Bone Miner Res (2010) 0.96
Position of single amino acid substitutions in the collagen triple helix determines their effect on structure of collagen fibrils. J Struct Biol (2004) 0.96
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. Hum Mol Genet (2007) 0.95
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. Hum Mutat (2013) 0.95
Obese carboxypeptidase E knockout mice exhibit multiple defects in peptide hormone processing contributing to low bone mineral density. Am J Physiol Endocrinol Metab (2010) 0.94
Guilty by association: some collagen II mutants alter the formation of ECM as a result of atypical interaction with fibronectin. J Mol Biol (2005) 0.94
Collagen fibril formation. A new target to limit fibrosis. J Biol Chem (2008) 0.94
Thermostability gradient in the collagen triple helix reveals its multi-domain structure. J Mol Biol (2004) 0.93
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling. Matrix Biol (2010) 0.92
Procollagen VII self-assembly depends on site-specific interactions and is promoted by cleavage of the NC2 domain with procollagen C-proteinase. Biochemistry (2003) 0.91
Univariate and bivariate variance component linkage analysis of a whole-genome scan for loci contributing to bone mineral density. Eur J Hum Genet (2005) 0.91
Differential structural properties and expression patterns suggest functional significance for multiple mouse desmoglein 1 isoforms. Differentiation (2004) 0.89
Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta. Bone (2011) 0.89
Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model. Matrix Biol (2004) 0.89
Effects of tissue hydration on nanoscale structural morphology and mechanics of individual Type I collagen fibrils in the Brtl mouse model of Osteogenesis Imperfecta. J Struct Biol (2012) 0.89
Single amino acid substitutions in procollagen VII affect early stages of assembly of anchoring fibrils. J Biol Chem (2004) 0.89
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Hum Mutat (2012) 0.89
Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2. Biochem Biophys Res Commun (2005) 0.88
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. J Hum Genet (2004) 0.88
A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. J Bone Miner Res (2014) 0.88
Temperament and physical performance in children with osteogenesis imperfecta. Pediatrics (2003) 0.87
R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response. J Mol Biol (2009) 0.87
Testing the utility of rationally engineered recombinant collagen-like proteins for applications in tissue engineering. J Biomed Mater Res A (2006) 0.86
Bone: Use of bisphosphonates in children-proceed with caution. Nat Rev Endocrinol (2009) 0.86
Identifying the structure of the active sites of human recombinant prolidase. Eur Biophys J (2009) 0.86
Molecular basis of organization of collagen fibrils. J Struct Biol (2006) 0.85
N-benzyloxycarbonyl-L-proline: an in vitro and in vivo inhibitor of prolidase. Biochim Biophys Acta (2005) 0.85
Site-specific interaction of bone morphogenetic protein 2 with procollagen II. Cytokine (2002) 0.85
Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. Hum Mol Genet (2012) 0.85
Identifying the SPARC binding sites on collagen I and procollagen I by atomic force microscopy. Anal Chem (2005) 0.84
Skeletal diseases caused by mutations that affect collagen structure and function. Int J Biochem Cell Biol (2013) 0.84
Characterization of stress response in human retinal epithelial cells. J Cell Mol Med (2012) 0.84
Post-LASIK epithelial dendritic defect associated with Alternaria. Cornea (2007) 0.84
A quantitative and qualitative method for direct 2-DE analysis of murine cartilage. Proteomics (2007) 0.84
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. J Clin Endocrinol Metab (2013) 0.83
Alteration of proteoglycan sulfation affects bone growth and remodeling. Bone (2013) 0.83
Matrix disruptions, growth, and degradation of cartilage with impaired sulfation. J Biol Chem (2012) 0.82
Visualizing molecular polar order in tissues via electromechanical coupling. J Struct Biol (2012) 0.82
Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studies. FEBS J (2006) 0.82
Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix. J Biol Chem (2003) 0.82
Structural determinants of the selectivity of KTS-disintegrins for the alpha1beta1 integrin. FEBS Lett (2004) 0.82
Prospects and limitations of the rational engineering of fibrillar collagens. Protein Sci (2003) 0.82
Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach. J Proteomics (2012) 0.81
Mineral and matrix changes in Brtl/+ teeth provide insights into mineralization mechanisms. Biomed Res Int (2013) 0.81
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression. J Clin Endocrinol Metab (2014) 0.81
A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta. PLoS One (2012) 0.81