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Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta
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PubMed
title
Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta
(English)
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stated in
PubMed
main subject
osteogenesis imperfecta
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author name string
David R. Eyre
series ordinal
1
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Crossref
Mary Ann Weis
series ordinal
2
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stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
October 2013
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stated in
PubMed
published in
Calcified Tissue International
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PubMed
volume
93
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PubMed
issue
4
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PubMed
page(s)
338-47
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PubMed
cites work
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation
1 reference
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PubMed Central
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21 March 2017
The biology of small leucine-rich proteoglycans in bone pathophysiology
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PubMed Central
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21 March 2017
Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition
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PubMed Central
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21 March 2017
Mutations in SERPINF1 cause osteogenesis imperfecta type VI
1 reference
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PubMed Central
reference URL
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21 March 2017
Lrp5 functions in bone to regulate bone mass
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
The thermal transition of a non-hydroxylated form of collagen. Evidence for a role for hydroxyproline in stabilizing the triple-helix of collagen
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Bril: a novel bone-specific modulator of mineralization
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
21 March 2017
CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Identification of the loci of the collagen-associated Ehrlich chromogen in type I collagen confirms its role as a trivalent cross-link
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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21 March 2017
Comprehensive mass spectrometric mapping of the hydroxylated amino acid residues of the α1(V) collagen chain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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28 September 2017
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
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28 September 2017
Recent advances in osteogenesis imperfecta.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Osteoadherin accumulates in the predentin towards the mineralization front in the developing tooth
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
The role of small leucine-rich proteoglycans in collagen fibrillogenesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Location of 3-hydroxyproline residues in collagen types I, II, III, and V/XI implies a role in fibril supramolecular assembly
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
PPIB mutations cause severe osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Differences in chain usage and cross-linking specificities of cartilage type V/XI collagen isoforms with age and tissue
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Advances in collagen cross-link analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Early evolution of vertebrate skeletal tissues and cellular interactions, and the canalization of skeletal development.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
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
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
28 September 2017
Mineralization of the metre-long biosilica structures of glass sponges is templated on hydroxylated collagen
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
31 May 2018
Ehrlich chromogens, probable cross-links in elastin and collagen
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
31 May 2018
Identification of the cartilage alpha 1(XI) chain in type V collagen from bovine bone
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3758449
retrieved
31 May 2018
Cross-link profile of bone collagen correlates with structural organization of trabeculae
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS00223-013-9723-9
retrieved
21 January 2018
The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS00223-013-9723-9
retrieved
21 January 2018
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1007%2FS00223-013-9723-9
retrieved
21 January 2018
Pyridinium cross-links in bone of patients with osteogenesis imperfecta: evidence of a normal intrafibrillar collagen packing
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23508630
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular site specificity of pyridinoline and pyrrole cross-links in type I collagen of human bone
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23508630
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23508630
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The crystal structure of a collagen-like polypeptide with 3(S)-hydroxyproline residues in the Xaa position forms a standard 7/2 collagen triple helix
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23508630
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1007/S00223-013-9723-9
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
226639
Dimensions Publication ID
1040651903
0 references
OpenCitations bibliographic resource ID
226639
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
226639
PMCID
3758449
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
226639
PubMed ID
23508630
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
226639
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