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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
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9openalex-snapshot
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
inferredcites →https://doi.org/10.1002/ajmg.1320340112openalex-snapshot
Type I procollagen: The gene‐protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue
inferredcites →https://doi.org/10.1002/ajmg.1320450204openalex-snapshot
Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen
inferredcites →https://doi.org/10.1002/bies.950030306openalex-snapshot
The molecular genetics of collagen
inferredcites →https://doi.org/10.1002/humu.10262openalex-snapshot
Standardizing mutation nomenclature: Why bother?
inferredcites →https://doi.org/10.1002/humu.20091openalex-snapshot
Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders
inferredcites →https://doi.org/10.1002/jbm.a.30034openalex-snapshot
α2β1 integrin‐specific collagen‐mimetic surfaces supporting osteoblastic differentiation
inferredcites →https://doi.org/10.1002/jbmr.5650081311openalex-snapshot
Journal of Bone and Mineral Research
inferredcites →https://doi.org/10.1006/jsbi.1998.4025openalex-snapshot
Type I Collagen–Phosphophoryn Interactions: Specificity of the Monomer–Monomer Binding
inferredcites →https://doi.org/10.1006/mgme.2000.3039openalex-snapshot
Osteogenesis Imperfecta: Prospects for Molecular Therapeutics
inferredcites →https://doi.org/10.1007/s004390100505openalex-snapshot
Nomenclature for the description of human sequence variations
inferredcites →https://doi.org/10.1016/0076-6879(87)45012-xopenalex-snapshot
Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta
inferredcites →https://doi.org/10.1016/0141-8130(91)90040-2openalex-snapshot
Sequence specific thermal stability of the collagen triple helix
inferredcites →https://doi.org/10.1016/0141-8130(91)90041-ropenalex-snapshot
Proteoglycan:collagen interactions in connective tissues. Ultrastructural, biochemical, functional and evolutionary aspects
inferredcites →https://doi.org/10.1016/s0006-291x(76)80060-5openalex-snapshot
Localization of the cell attachment region in types I and II collagens
inferredcites →https://doi.org/10.1016/s0021-9258(17)30315-0openalex-snapshot
Localization of the binding site for cell attachment in the alpha1(I) chain of collagen
inferredcites →https://doi.org/10.1016/s0021-9258(18)35751-xopenalex-snapshot
Nonenzymatic glycation of type I collagen. The effects of aging on preferential glycation sites.
inferredcites →https://doi.org/10.1016/s0021-9258(18)53826-6openalex-snapshot
Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology.
inferredcites →https://doi.org/10.1016/s0021-9258(18)80150-8openalex-snapshot
Osteogenesis imperfecta type IV
inferredcites →https://doi.org/10.1016/s0021-9258(19)74583-9openalex-snapshot
Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype.
inferredcites →https://doi.org/10.1016/s0092-8674(00)80477-8openalex-snapshot
Direct Binding and Activation of Receptor Tyrosine Kinases by Collagen
inferredcites →https://doi.org/10.1016/s0140-6736(04)16051-0openalex-snapshot
Osteogenesis imperfecta
inferredcites →https://doi.org/10.1016/s0945-053x(99)00056-6openalex-snapshot
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains
inferredcites →https://doi.org/10.1016/s1097-2765(00)80003-9openalex-snapshot
The Discoidin Domain Receptor Tyrosine Kinases Are Activated by Collagen
inferredcites →https://doi.org/10.1016/s1097-2765(00)80004-0openalex-snapshot
An Orphan Receptor Tyrosine Kinase Family Whose Members Serve as Nonintegrin Collagen Receptors
inferredcites →https://doi.org/10.1023/a:1006928403140openalex-snapshot
Glycation changes the charge distribution of type I collagen fibrils
inferredcites →https://doi.org/10.1038/304078a0openalex-snapshot
Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta
inferredcites →https://doi.org/10.1042/bj2520313openalex-snapshot
Proteoglycan-fibrillar collagen interactions
inferredcites →https://doi.org/10.1042/bst025s663openalex-snapshot
135 Peptide sequences in glutaraldehyde-linked proteodermatan sulphate:collagen fragments from rat tail tendon locate the proteoglycan binding sites
inferredcites →https://doi.org/10.1046/j.1432-1327.1998.2540580.xopenalex-snapshot
Structural requirements for fibromodulin binding to collagen and the control of type I collagen fibrillogenesis
inferredcites →https://doi.org/10.1056/nejm198408093110606openalex-snapshot
Heritable Diseases of Collagen
inferredcites →https://doi.org/10.1073/pnas.89.3.957openalex-snapshot
Analysis of CpG suppression in methylated and nonmethylated species.
inferredcites →https://doi.org/10.1073/pnas.94.6.2374openalex-snapshot
cDNA cloning and expression of bovine procollagen I N-proteinase: A new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components
inferredcites →https://doi.org/10.1073/pnas.95.13.7275openalex-snapshot
Defining the domains of type I collagen involved in heparin- binding and endothelial tube formation
inferredcites →https://doi.org/10.1074/jbc.271.43.26508openalex-snapshot
Molecular Site Specificity of Pyridinoline and Pyrrole Cross-links in Type I Collagen of Human Bone
inferredcites →https://doi.org/10.1074/jbc.273.25.15598openalex-snapshot
Inhibition of the Self-assembly of Collagen I into Fibrils with Synthetic Peptides
inferredcites →https://doi.org/10.1074/jbc.273.32.20397openalex-snapshot
Cartilage Oligomeric Matrix Protein Shows High Affinity Zinc-dependent Interaction with Triple Helical Collagen
inferredcites →https://doi.org/10.1074/jbc.274.14.9636openalex-snapshot
Fibromodulin-null Mice Have Abnormal Collagen Fibrils, Tissue Organization, and Altered Lumican Deposition in Tendon
inferredcites →https://doi.org/10.1074/jbc.275.18.13282openalex-snapshot
Hydrolysis of Triple-helical Collagen Peptide Models by Matrix Metalloproteinases
inferredcites →https://doi.org/10.1074/jbc.c000278200openalex-snapshot
Decorin Binds Near the C Terminus of Type I Collagen
inferredcites →https://doi.org/10.1074/jbc.m007668200openalex-snapshot
Multiple Binding Sites in Collagen Type I for the Integrins α1β1 and α2β1
inferredcites →https://doi.org/10.1074/jbc.m110709200openalex-snapshot
Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen
inferredcites →https://doi.org/10.1074/jbc.m304237200openalex-snapshot
Angiogenesis in Collagen I Requires α2β1 Ligation of a GFP*GER Sequence and Possibly p38 MAPK Activation and Focal Adhesion Disassembly
inferredcites →https://doi.org/10.1074/jbc.m305989200openalex-snapshot
Induction of Endothelial Cell Activation by a Triple Helical α2β1 Integrin Ligand, Derived from Type I Collagen α1(I)496–507
inferredcites →https://doi.org/10.1074/jbc.m414698200openalex-snapshot
Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing
inferredcites →https://doi.org/10.1074/jbc.m501657200openalex-snapshot
Prediction of Collagen Stability from Amino Acid Sequence
inferredcites →https://doi.org/10.1083/jcb.121.5.1165openalex-snapshot
Fibronectin binding site in type I collagen regulates fibronectin fibril formation.
inferredcites →https://doi.org/10.1083/jcb.125.5.1179openalex-snapshot
Mapping the heparin-binding sites on type I collagen monomers and fibrils.
inferredcites →https://doi.org/10.1083/jcb.140.2.419openalex-snapshot
Mice That Lack Thrombospondin 2 Display Connective Tissue Abnormalities That Are Associated with Disordered Collagen Fibrillogenesis, an Increased Vascular Density, and a Bleeding Diathesis
inferredcites →https://doi.org/10.1083/jcb.141.5.1277openalex-snapshot
Lumican Regulates Collagen Fibril Assembly: Skin Fragility and Corneal Opacity in the Absence of Lumican
inferredcites →https://doi.org/10.1086/301689openalex-snapshot
Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations
inferredcites →https://doi.org/10.1086/420794openalex-snapshot
Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway
inferredcites →https://doi.org/10.1093/nar/25.1.181openalex-snapshot
The human type I collagen mutation database
inferredcites →https://doi.org/10.1093/nar/26.1.253openalex-snapshot
The Human Collagen Mutation Database 1998
inferredcites →https://doi.org/10.1096/fasebj.5.13.1916105openalex-snapshot
Collagen family of proteins
inferredcites →https://doi.org/10.1096/fasebj.5.7.2010058openalex-snapshot
Mutations in collagen genes: causes of rare and some common diseases in humans
inferredcites →https://doi.org/10.1136/jmg.16.2.101openalex-snapshot
Genetic heterogeneity in osteogenesis imperfecta.
inferredcites →https://doi.org/10.1136/jmg.2005.038224openalex-snapshot
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
inferredcites →https://doi.org/10.1136/jmg.28.7.433openalex-snapshot
Osteogenesis imperfecta: translation of mutation to phenotype.
inferredcites →https://doi.org/10.1146/annurev.bb.20.060191.001033openalex-snapshot
The Zipper-Like Folding of Collagen Triple Helices and the Effects of Mutations that Disrupt the Zipper
inferredcites →https://doi.org/10.1146/annurev.biophys.20.1.137openalex-snapshot
The Zipper-Like Folding Of Collagen Triple Helices And The Effects Of Mutations That Disrupt The Zipper
inferredcites →https://doi.org/10.1159/000447017openalex-snapshot
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
inferredcites →https://doi.org/10.1172/jci118495openalex-snapshot
Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta.
inferredcites →https://doi.org/10.1242/jcs.01731openalex-snapshot
Procollagen trafficking, processing and fibrillogenesis
inferredcites →https://doi.org/10.3109/03008207409152099openalex-snapshot
The Staining Pattern of Collagen Fibrils: I. an Analysis of Electron Micrographs
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4649988openalex-extracted
Type V Osteogenesis Imperfecta with Evidence of Perinatal Involvement: First Case Report in Mexico
inferred← citeshttps://doi.org/10.1002/9780470623992.ch95openalex-snapshot
Chapter 95. Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/9781118453926.ch15openalex-snapshot
Human Fetal and Neonatal Bone Development
inferred← citeshttps://doi.org/10.1002/9781118704868.ch13openalex-snapshot
Clinical Correlate: Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/9781119266594.ch15openalex-snapshot
Human Fetal and Neonatal Bone Development
inferred← citeshttps://doi.org/10.1002/adhm.202501452openalex-snapshot
Acceleration of Calvarial Bone Regeneration by Stem Cell Recruitment with a Multifunctional Hydrogel
inferred← citeshttps://doi.org/10.1002/ajmg.a.32508openalex-snapshot
Popcorn calcification in osteogenesis imperfecta: Incidence, progression, and molecular correlation
inferred← citeshttps://doi.org/10.1002/ajmg.a.32653openalex-snapshot
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2
inferred← citeshttps://doi.org/10.1002/ajmg.a.33448openalex-snapshot
Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype
inferred← citeshttps://doi.org/10.1002/ajmg.a.33998openalex-snapshot
Type 1 collagenopathy presenting with a Russell–Silver phenotype
inferred← citeshttps://doi.org/10.1002/ajmg.a.36409openalex-snapshot
Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1002/ajmg.a.36427openalex-snapshot
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects
inferred← citeshttps://doi.org/10.1002/ajmg.a.36997openalex-snapshot
Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1
inferred← citeshttps://doi.org/10.1002/ajmg.a.37051openalex-snapshot
Severe osteogenesis imperfecta caused by double glycine substitutions near the amino‐terminal triple helical region in COL1A2
inferred← citeshttps://doi.org/10.1002/ajmg.a.37431openalex-snapshot
Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1002/ajmg.a.37547openalex-snapshot
An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing
inferred← citeshttps://doi.org/10.1002/ajmg.a.40501openalex-snapshot
Isolated dentinogenesis imperfecta with glass‐like enamel caused by COL1A2 mutation
inferred← citeshttps://doi.org/10.1002/ajmg.a.62887openalex-snapshot
Clinical and molecular features of patients with COL1 ‐related disorders: Implications for the wider spectrum and the risk of vascular complications
inferred← citeshttps://doi.org/10.1002/ajmg.a.63867openalex-snapshot
First Trimester Fetal Clubfoot: A Novel Presentation of Severe Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/ajmg.a.63972openalex-snapshot
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II
inferred← citeshttps://doi.org/10.1002/ajmg.a.64016openalex-snapshot
Registry‐Based Frequency of Molecularly Confirmed Osteogenesis Imperfecta in a Swiss Cohort of Individuals With Connective Tissue Disorders
inferred← citeshttps://doi.org/10.1002/ajmg.a.64023openalex-snapshot
COL1A1 and COL1A2 Gene Variants Causing Osteogenesis Imperfecta in a Major Referral Center of India
inferred← citeshttps://doi.org/10.1002/ajmg.c.31459openalex-snapshot
What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases
inferred← citeshttps://doi.org/10.1002/ajmg.c.31532openalex-snapshot
Pharmacological and biological therapeutic strategies for osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1002/ajmg.c.32038openalex-snapshot
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1 ‐related overlap disorder
inferred← citeshttps://doi.org/10.1002/ange.1329257openalex-snapshot
Lysine Oxidation by LOXL2 in Single Strands Versus Triple Helices: Implications for Collagen‐Related Diseases
inferred← citeshttps://doi.org/10.1002/anie.1329257openalex-snapshot
Lysine Oxidation by LOXL2 in Single Strands Versus Triple Helices: Implications for Collagen‐Related Diseases
inferred← citeshttps://doi.org/10.1002/ar.23308openalex-snapshot
Mutations in COL1A1 Gene Change Dentin Nanostructure
inferred← citeshttps://doi.org/10.1002/ar.24086openalex-snapshot
Genetic Disorders of the Extracellular Matrix
inferred← citeshttps://doi.org/10.1002/art.27354openalex-snapshot
Premature arthritis is a distinct type II collagen phenotype
inferred← citeshttps://doi.org/10.1002/bies.20636openalex-snapshot
The collagen family members as cell adhesion proteins
inferred← citeshttps://doi.org/10.1002/bip.20958openalex-snapshot
Triple‐helical peptides: An approach to collagen conformation, stability, and self‐association
inferred← citeshttps://doi.org/10.1002/bip.21432openalex-snapshot
Sequence environment of mutation affects stability and folding in collagen model peptides of osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1002/bip.22085openalex-snapshot
Molecular dynamic simulation studies on the effect of one residue chain staggering on the structure and stability of heterotrimeric collagen‐like peptides with interruption
inferred← citeshttps://doi.org/10.1002/bmb.20672openalex-snapshot
Investigation of the human disease osteogenesis imperfecta: A research‐based introduction to concepts and skills in biomolecular analysis
inferred← citeshttps://doi.org/10.1002/cbic.201900114openalex-snapshot
Morphology of Osteogenesis Imperfecta Collagen Mimetic Peptide Assemblies Correlates with the Identity of Glycine‐Substituting Residue
inferred← citeshttps://doi.org/10.1002/ccr3.4128openalex-snapshot
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder
inferred← citeshttps://doi.org/10.1002/ctm2.265openalex-snapshot
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial
inferred← citeshttps://doi.org/10.1002/humu.20456openalex-snapshot
Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype
inferred← citeshttps://doi.org/10.1002/humu.20611openalex-snapshot
A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype
inferred← citeshttps://doi.org/10.1002/humu.20650openalex-snapshot
Recommendations for locus-specific databases and their curation
inferred← citeshttps://doi.org/10.1002/humu.20978openalex-snapshot
COLdb, a database linking genetic data to molecular function in fibrillar collagens
inferred← citeshttps://doi.org/10.1002/humu.21257openalex-snapshot
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1
inferred← citeshttps://doi.org/10.1002/humu.21401openalex-snapshot
Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes
inferred← citeshttps://doi.org/10.1002/humu.21475openalex-snapshot
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1002/humu.22137openalex-snapshot
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
inferred← citeshttps://doi.org/10.1002/humu.22429openalex-snapshot
Position of Glycine Substitutions in the Triple Helix ofCOL6A1,COL6A2, andCOL6A3is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies
inferred← citeshttps://doi.org/10.1002/humu.22677openalex-snapshot
Type I Procollagen C-Propeptide Defects: Study of Genotype-Phenotype Correlation and Predictive Role of Crystal Structure
inferred← citeshttps://doi.org/10.1002/humu.22731openalex-snapshot
Identification andIn VivoFunctional Characterization of Novel Compound HeterozygousBMP1Variants in Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/humu.22812openalex-snapshot
Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1 , Which Encodes the proα1(I) Chains of Type I Procollagen
inferred← citeshttps://doi.org/10.1002/humu.9497openalex-snapshot
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms
inferred← citeshttps://doi.org/10.1002/jbm4.10174openalex-snapshot
Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research
inferred← citeshttps://doi.org/10.1002/jbm4.10377openalex-snapshot
Gene Expression Profile and Acute Gene Expression Response to Sclerostin Inhibition in Osteogenesis Imperfecta Bone
inferred← citeshttps://doi.org/10.1002/jbm4.10530openalex-snapshot
Inhibition of TGF ‐β Increases Bone Volume and Strength in a Mouse Model of Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/jbmr.1892openalex-snapshot
A Mouse Model for Human Osteogenesis Imperfecta Type VI
inferred← citeshttps://doi.org/10.1002/jbmr.1942openalex-snapshot
Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1
inferred← citeshttps://doi.org/10.1002/jbmr.2173openalex-snapshot
A Novel IFITM5 Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor
inferred← citeshttps://doi.org/10.1002/jbmr.2177openalex-snapshot
First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome
inferred← citeshttps://doi.org/10.1002/jbmr.220openalex-snapshot
Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants
inferred← citeshttps://doi.org/10.1002/jbmr.2473openalex-snapshot
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/jbmr.250openalex-snapshot
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
inferred← citeshttps://doi.org/10.1002/jbmr.2824openalex-snapshot
Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in α2(I)-G610C Mouse Model of Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/jbmr.2835openalex-snapshot
Bone Material Properties in Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/jbmr.3424openalex-snapshot
Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
inferred← citeshttps://doi.org/10.1002/jbmr.3445openalex-snapshot
Severely Impaired Bone Material Quality in Chihuahua Zebrafish Resembles Classical Dominant Human Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/jbmr.4529openalex-snapshot
Combinatorial Inhibition of Myostatin and Activin A Improves Femoral Bone Properties in the G610C Mouse Model of Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1002/jbmr.4783openalex-snapshot
CRISPR/Cas9 correction of a dominant cis-double-variant in COL1A1 isolated from a patient with osteogenesis imperfecta increases the osteogenic capacity of induced pluripotent stem cells
inferred← citeshttps://doi.org/10.1002/jemt.23920openalex-snapshot
Multiscale characterization of pathological bone tissue
inferred← citeshttps://doi.org/10.1002/mgg3.1105openalex-snapshot
Two novel mutations of COL1A1 in fetal genetic skeletal dysplasia of Chinese
inferred← citeshttps://doi.org/10.1002/mgg3.1366openalex-snapshot
A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family
inferred← citeshttps://doi.org/10.1002/mgg3.1422openalex-snapshot
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing
inferred← citeshttps://doi.org/10.1002/mgg3.1675openalex-snapshot
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands
inferred← citeshttps://doi.org/10.1002/mgg3.1996openalex-snapshot
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1002/mgg3.2019openalex-snapshot
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I
inferred← citeshttps://doi.org/10.1002/mgg3.331openalex-snapshot
Genetic analysis of osteogenesis imperfecta in the P alestinian population: molecular screening of 49 affected families
inferred← citeshttps://doi.org/10.1002/mgg3.559openalex-snapshot
De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1002/mgg3.619openalex-snapshot
COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I
inferred← citeshttps://doi.org/10.1002/mgg3.70288openalex-snapshot
Analysis of Genetic Factors in a Family With Short Stature
inferred← citeshttps://doi.org/10.1002/pd.4648openalex-snapshot
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
inferred← citeshttps://doi.org/10.1002/pd.5298openalex-snapshot
Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel
inferred← citeshttps://doi.org/10.1002/pd.5974openalex-snapshot
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield
inferred← citeshttps://doi.org/10.1002/pd.6549openalex-snapshot
Caution with noninvasive prenatal screening for single gene disorders: A case report of a COL1A1 variant in osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1002/pmic.200600919openalex-snapshot
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
inferred← citeshttps://doi.org/10.1002/pro.2828openalex-snapshot
CD and NMR investigation of collagen peptides mimicking a pathological Gly-Ser mutation and a natural interruption in a similar highly charged sequence context
inferred← citeshttps://doi.org/10.1002/pro.383openalex-snapshot
Interruptions in the collagen repeating tripeptide pattern can promote supramolecular association
inferred← citeshttps://doi.org/10.1002/stem.1107openalex-snapshot
Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta: A New Target for Osteogenesis Imperfecta Pharmacological Therapy
inferred← citeshttps://doi.org/10.1002/wdev.66openalex-snapshot
Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition
inferred← citeshttps://doi.org/10.1007/978-0-387-73906-9_16openalex-snapshot
Genetic Collagen Diseases: Influence of Collagen Mutations on Structure and Mechanical Behavior
inferred← citeshttps://doi.org/10.1007/978-1-4939-1086-1_3openalex-snapshot
I.C. Hereditary Vitreo-Retinopathies
inferred← citeshttps://doi.org/10.1007/978-1-84882-085-2_3openalex-snapshot
The Molecular Basis of Joint Hypermobility
inferred← citeshttps://doi.org/10.1007/978-3-030-58330-9_6openalex-snapshot
Extracellular Matrix Networks: From Connections to Functions
inferred← citeshttps://doi.org/10.1007/978-3-030-67592-9_2openalex-snapshot
Procollagen Trafficking and its Implications in Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1007/978-3-031-34304-9_10openalex-snapshot
Aberrant Mineral Deposition in Soft and Hard Tissues
inferred← citeshttps://doi.org/10.1007/978-3-031-34304-9_7openalex-snapshot
Collagen-based Mineralization of Bones, Teeth, and Other Vertebrate Skeletal Tissues
inferred← citeshttps://doi.org/10.1007/978-3-031-70835-0_4openalex-snapshot
Collagen II Mutations in Inherited Cartilage Disease: Our Current Understanding of Genotype-Phenotype Correlations
inferred← citeshttps://doi.org/10.1007/978-3-031-88769-7_4openalex-snapshot
Classifications/Differential Diagonses of Ehlers–Danlos Syndrome
inferred← citeshttps://doi.org/10.1007/978-3-642-45381-6_23openalex-snapshot
Generalized Disorders and Syndromes of Orthopedic Importance
inferred← citeshttps://doi.org/10.1007/978-3-662-46306-2_10openalex-snapshot
Mapping Genes in Isolated Populations: Lessons from the Old Order Amish
inferred← citeshttps://doi.org/10.1007/978-981-10-1941-8_3openalex-snapshot
Bioinformatic Analysis of Collagen Sequences
inferred← citeshttps://doi.org/10.1007/bf03195625openalex-snapshot
Two novelCOL1A1 mutations in patients with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix
inferred← citeshttps://doi.org/10.1007/s00112-020-01024-5openalex-snapshot
Größenwachstum und Knochengesundheit bei Erkrankungen der Wachstumsfuge und des Knochens: Möglichkeiten und Grenzen einer GH-Therapie
inferred← citeshttps://doi.org/10.1007/s00198-011-1763-2openalex-snapshot
Genetic analysis of serum osteocalcin and bone mineral in multigenerational Afro-Caribbean families
inferred← citeshttps://doi.org/10.1007/s00198-013-2465-8openalex-snapshot
A brilliant breakthrough in OI type V
inferred← citeshttps://doi.org/10.1007/s00198-016-3653-0openalex-snapshot
Skeletal phenotypes in adult patients with osteogenesis imperfecta—correlations with COL1A1/COL1A2 genotype and collagen structure
inferred← citeshttps://doi.org/10.1007/s00198-016-3723-3openalex-snapshot
Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment
inferred← citeshttps://doi.org/10.1007/s00198-017-4143-8openalex-snapshot
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing
inferred← citeshttps://doi.org/10.1007/s00198-017-4250-6openalex-snapshot
Correction to: Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing
inferred← citeshttps://doi.org/10.1007/s00198-018-4499-4openalex-snapshot
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2
inferred← citeshttps://doi.org/10.1007/s00198-019-05076-6openalex-snapshot
Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1007/s00198-021-06135-7openalex-snapshot
A novel mutation in collagen gene COL1A2 associated with transient regional osteoporosis
inferred← citeshttps://doi.org/10.1007/s00198-021-06263-0openalex-snapshot
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects
inferred← citeshttps://doi.org/10.1007/s00198-022-06530-8openalex-snapshot
Osteogenesis imperfecta and rheumatoid arthritis: connective issues
inferred← citeshttps://doi.org/10.1007/s00223-008-9113-xopenalex-snapshot
Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations
inferred← citeshttps://doi.org/10.1007/s00223-012-9588-3openalex-snapshot
Recent Advances in Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1007/s00223-013-9799-2openalex-snapshot
Hyperosteoidosis and Hypermineralization in the Same Bone: Bone Tissue Analyses in a Boy with a Homozygous BMP1 Mutation
inferred← citeshttps://doi.org/10.1007/s00223-017-0359-zopenalex-snapshot
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1007/s00223-018-0414-4openalex-snapshot
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
inferred← citeshttps://doi.org/10.1007/s00223-024-01266-5openalex-snapshot
Update on the Genetics of Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1007/s00223-024-01311-3openalex-snapshot
Risk of Gastrointestinal Diseases in Osteogenesis Imperfecta: A Nationwide, Register-Based Cohort Study
inferred← citeshttps://doi.org/10.1007/s00223-026-01520-yopenalex-snapshot
Clinical and Genetic Characterization of Osteogenesis Imperfecta in Japanese Patients: Outcomes of Sequential Bisphosphonate Therapy
inferred← citeshttps://doi.org/10.1007/s00239-019-09890-8openalex-snapshot
Visualization of Genetic Drift Processes Using the Conserved Collagen 1α1 GXY Domain
inferred← citeshttps://doi.org/10.1007/s00335-019-09794-4openalex-snapshot
Evidence for a de novo, dominant germ-line mutation causative of osteogenesis imperfecta in two Red Angus calves
inferred← citeshttps://doi.org/10.1007/s00414-024-03290-4openalex-snapshot
Reviewing hereditary connective tissue disorders: Proposals of harmonic medicolegal assessments
inferred← citeshttps://doi.org/10.1007/s00439-011-1006-9openalex-snapshot
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8
inferred← citeshttps://doi.org/10.1007/s00441-009-0872-0openalex-snapshot
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1007/s00467-013-2486-8openalex-snapshot
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome
inferred← citeshttps://doi.org/10.1007/s00726-008-0073-2openalex-snapshot
The importance of proline residues in the structure, stability and susceptibility to proteolytic degradation of collagens
inferred← citeshttps://doi.org/10.1007/s00774-009-0142-yopenalex-snapshot
Effects of the bisphosphonate risedronate on osteopenia in OASIS-deficient mice
inferred← citeshttps://doi.org/10.1007/s00774-011-0284-6openalex-snapshot
The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1007/s00774-015-0667-1openalex-snapshot
IFITM5 mutations and osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1007/s00774-017-0840-9openalex-snapshot
Responsiveness to pamidronate treatment is not related to the genotype of type I collagen in patients with osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1007/s00774-019-01039-3openalex-snapshot
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1007/s00774-020-01163-5openalex-snapshot
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1007/s00774-026-01708-0openalex-snapshot
Bone matrix proteins: regulators of skeletal remodeling and repair
inferred← citeshttps://doi.org/10.1007/s10354-015-0369-2openalex-snapshot
Bone mass and mineralization in osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1007/s10439-013-0793-7openalex-snapshot
Gender-Dependence of Bone Structure and Properties in Adult Osteogenesis Imperfecta Murine Model
inferred← citeshttps://doi.org/10.1007/s10620-008-0340-9openalex-snapshot
Study of the Association Between Polymorphisms of the COL1A1 Gene and HBV-Related Liver Cirrhosis in Chinese Patients
inferred← citeshttps://doi.org/10.1007/s11033-024-09326-7openalex-snapshot
Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases
inferred← citeshttps://doi.org/10.1007/s11657-020-0681-3openalex-snapshot
Osteogenesis imperfecta and rheumatoid arthritis: is there a link?
inferred← citeshttps://doi.org/10.1007/s11657-026-01656-2openalex-snapshot
Relationship between bone mineral density and strength derived from 3D-shaper and HR-pQCT in patients with X-linked osteoporosis related to PLS3
inferred← citeshttps://doi.org/10.1007/s11914-007-0023-zopenalex-snapshot
Osteogenesis imperfecta: Epidemiology and pathophysiology
inferred← citeshttps://doi.org/10.1007/s11999-010-1694-9openalex-snapshot
Diseases Affecting Bone Quality: Beyond Osteoporosis
inferred← citeshttps://doi.org/10.1007/s12018-007-9005-zopenalex-snapshot
Bisphosphonates in Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1007/s12519-026-01086-7openalex-snapshot
Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies
inferred← citeshttps://doi.org/10.1007/s40203-024-00218-zopenalex-snapshot
Systems biology approach: identification of hub genes, signaling pathways, and molecular docking of COL1A1 gene in cervical insufficiency
inferred← citeshttps://doi.org/10.1007/s40618-014-0149-7openalex-snapshot
Unveiling the mysteries of the genetics of osteoporosis
inferred← citeshttps://doi.org/10.1007/s42242-022-00207-1openalex-snapshot
Rapid and mass manufacturing of soft hydrogel microstructures for cell patterns assisted by 3D printing
inferred← citeshttps://doi.org/10.1016/b978-0-12-373884-4.00008-2openalex-snapshot
Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-373884-4.00034-3openalex-snapshot
Type I Collagen Structure, Synthesis, and Regulation
inferred← citeshttps://doi.org/10.1016/b978-0-12-374602-3.00042-0openalex-snapshot
Inherited and Related Disorders of Bone Matrix Synthesis in Men
inferred← citeshttps://doi.org/10.1016/b978-0-12-382040-2.10016-4openalex-snapshot
Pediatric Bone Histomorphometry
inferred← citeshttps://doi.org/10.1016/b978-0-12-386471-0.00009-2openalex-snapshot
Hsp47 as a Collagen-Specific Molecular Chaperone
inferred← citeshttps://doi.org/10.1016/b978-0-12-387829-8.00017-2openalex-snapshot
Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00004-6openalex-snapshot
Mineralized Tissue
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00005-8openalex-snapshot
Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00007-1openalex-snapshot
Collagen Structure, Folding and Function
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00008-3openalex-snapshot
Bone Matrix Proteoglycans in Skeletal Function
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00010-1openalex-snapshot
Osteogenesis Imperfecta Genotypes and Genotype–Phenotype Relationships
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00011-3openalex-snapshot
Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00013-7openalex-snapshot
Sequence Alterations in the Carboxyl-Terminal Propeptide Domain
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00021-6openalex-snapshot
Animal Models of Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00025-3openalex-snapshot
Bone Histomorphometry
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00056-3openalex-snapshot
Pharmacologic Treatment of Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-397165-4.00057-5openalex-snapshot
The Potential of Gene and Cell-Based Strategies for the Treatment of Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-415853-5.00011-xopenalex-snapshot
The Regulatory Role of Matrix Proteins in Mineralization of Bone
inferred← citeshttps://doi.org/10.1016/b978-0-12-415853-5.00043-1openalex-snapshot
Osteoporosis in Childhood and Adolescence
inferred← citeshttps://doi.org/10.1016/b978-0-12-415853-5.00053-4openalex-snapshot
Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis
inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.11235-8openalex-snapshot
Genetics of Osteoporosis
inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.64552-xopenalex-snapshot
Pathogenesis of Osteoporosis
inferred← citeshttps://doi.org/10.1016/b978-0-12-801238-3.65413-2openalex-snapshot
Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-802761-5.00028-6openalex-snapshot
Molecular Basis of Bone Diseases
inferred← citeshttps://doi.org/10.1016/b978-0-12-804182-6.00023-xopenalex-snapshot
Osteogenesis Imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-813073-5.00008-3openalex-snapshot
The regulatory role of matrix proteins in mineralization of bone
inferred← citeshttps://doi.org/10.1016/b978-0-12-813073-5.00048-4openalex-snapshot
Osteogenesis imperfecta and other defects of bone development as occasional causes of adult osteoporosis
inferred← citeshttps://doi.org/10.1016/b978-0-12-814841-9.00013-0openalex-snapshot
Type I collagen structure, synthesis, and regulation
inferred← citeshttps://doi.org/10.1016/b978-0-12-814841-9.00014-2openalex-snapshot
Collagen cross-linking and bone pathobiology
inferred← citeshttps://doi.org/10.1016/b978-0-12-814841-9.00061-0openalex-snapshot
Osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-12-817068-7.00031-8openalex-snapshot
The collagen chaperones
inferred← citeshttps://doi.org/10.1016/b978-0-12-822951-4.00015-1openalex-snapshot
Collagenopathies: Osteogenesis imperfecta and related disorders
inferred← citeshttps://doi.org/10.1016/b978-0-323-06551-1.00205-0openalex-snapshot
Heritable connective tissue disorders
inferred← citeshttps://doi.org/10.1016/b978-0-323-09138-1.00209-6openalex-snapshot
Heritable connective tissue disorders
inferred← citeshttps://doi.org/10.1016/b978-0-443-13683-2.00009-8openalex-snapshot
Osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-443-13825-6.00043-1openalex-snapshot
Pathogenesis of osteoporosis
inferred← citeshttps://doi.org/10.1016/b978-0-443-13825-6.00361-7openalex-snapshot
Osteogenesis imperfecta
inferred← citeshttps://doi.org/10.1016/b978-0-443-15617-5.00012-3openalex-snapshot
Collagen biomarkers of chronic diseases
inferred← citeshttps://doi.org/10.1016/b978-0-443-15617-5.00040-8openalex-snapshot
Collagen chaperones
inferred← citeshttps://doi.org/10.1016/b978-0-7020-3479-4.00035-0openalex-snapshot
Metabolic and endocrine disorders
inferred← citeshttps://doi.org/10.1016/b978-012370544-0.50053-7openalex-snapshot
Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis
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