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New genes in bone development: what's new in osteogenesis imperfecta
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scholarly article
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PubMed
title
New genes in bone development: what's new in osteogenesis imperfecta
(English)
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stated in
PubMed
main subject
osteogenesis imperfecta
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author name string
Joan C. Marini
series ordinal
1
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stated in
Crossref
Angela R. Blissett
series ordinal
2
1 reference
stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
August 2013
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stated in
PubMed
published in
The Journal of Clinical Endocrinology and Metabolism
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stated in
PubMed
volume
98
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PubMed
issue
8
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PubMed
page(s)
3095-103
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PubMed
cites work
Mutations in WNT1 cause different forms of bone fragility
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=3733862
retrieved
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=3733862
retrieved
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=3733862
retrieved
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=3733862
retrieved
21 March 2017
Null mutations in LEPRE1 and CRTAP cause 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=3733862
retrieved
21 March 2017
Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex
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=3733862
retrieved
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=3733862
retrieved
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=3733862
retrieved
21 March 2017
Genetic heterogeneity 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=3733862
retrieved
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=3733862
retrieved
21 March 2017
Osteoblasts and osteoclasts express PEDF, VEGF-A isoforms, and VEGF receptors: possible mediators of angiogenesis and matrix remodeling in the 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=3733862
retrieved
21 March 2017
Pigment epithelium–derived factor regulates the vasculature and mass of the prostate and pancreas
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=3733862
retrieved
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=3733862
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=3733862
retrieved
21 March 2017
Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.
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=3733862
retrieved
28 September 2017
WNT1 mutations in families affected by moderately severe and progressive 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=3733862
retrieved
28 September 2017
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation
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=3733862
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=3733862
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=3733862
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=3733862
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=3733862
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=3733862
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=3733862
retrieved
28 September 2017
New perspectives on 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=3733862
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=3733862
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=3733862
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=3733862
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=3733862
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=3733862
retrieved
28 September 2017
Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone 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=3733862
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=3733862
retrieved
28 September 2017
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.
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=3733862
retrieved
28 September 2017
Dual-site recognition of different extracellular matrix components by anti-angiogenic/neurotrophic serpin, PEDF.
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=3733862
retrieved
28 September 2017
Type V osteogenesis imperfecta: a new form of brittle bone disease
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=3733862
retrieved
28 September 2017
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal 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=3733862
retrieved
31 May 2018
A deletion mutation in TMEM38B associated with 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=3733862
retrieved
28 November 2018
Radial head dislocation and subluxation 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=3733862
retrieved
28 November 2018
Natural history of hyperplastic callus formation in 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=3733862
retrieved
28 November 2018
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
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=3733862
retrieved
28 November 2018
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect.
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=3733862
retrieved
28 November 2018
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23771926
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23771926
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Involvement of the collagen I-binding motif in the anti-angiogenic activity of pigment epithelium-derived factor
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23771926
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23771926
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23771926
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutations in WNT1 are a cause of osteogenesis imperfecta
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23771926
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1210/JC.2013-1505
0 references
PMC publication ID
3733862
1 reference
stated in
PubMed
PubMed publication ID
23771926
1 reference
stated in
PubMed
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