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Perinatal lethal osteogenesis imperfecta.
scientific article
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scholarly article
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Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
review article
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Europe PubMed Central
title
Perinatal lethal osteogenesis imperfecta
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
main subject
osteogenesis imperfecta
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author
Raymond Dalgleish
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
author name string
W G Cole
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
language of work or name
English
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publication date
1 April 1995
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stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
published in
Journal of Medical Genetics
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stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
volume
32
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
page(s)
284-289
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
cites work
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
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=1050377
retrieved
21 June 2018
Transgenic mice expressing a partially deleted gene for type I procollagen (COL1A1). A breeding line with a phenotype of spontaneous fractures and decreased bone collagen and mineral
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=1050377
retrieved
21 June 2018
Two cysteine substitutions in procollagen I: a glycine replacement near the N-terminus of alpha 1(I) chain causes lethal osteogenesis imperfecta and a glycine replacement in the alpha 2(I) chain markedly destabilizes the 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=1050377
retrieved
21 June 2018
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce 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=1050377
retrieved
21 June 2018
Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and 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=1050377
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21 June 2018
An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta
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=1050377
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21 June 2018
Osteogenesis imperfecta: comparison of molecular defects with bone histological changes
1 reference
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PubMed Central
reference URL
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21 June 2018
The clinical features of homozygous alpha 2(I) collagen deficient 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=1050377
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21 June 2018
Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene.
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=1050377
retrieved
21 June 2018
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of 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=1050377
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21 June 2018
Collagen defects in lethal perinatal 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=1050377
retrieved
21 June 2018
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal 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=1050377
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21 June 2018
Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I 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=1050377
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21 June 2018
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.
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=1050377
retrieved
21 June 2018
Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) 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=1050377
retrieved
21 June 2018
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen 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=1050377
retrieved
21 June 2018
Decreased thermal denaturation temperature of osteogenesis imperfecta mutant collagen is independent of post-translational overmodifications of lysine and hydroxylysine
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=1050377
retrieved
21 June 2018
Transgenic mouse model of the mild dominant form of 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=1050377
retrieved
21 June 2018
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent
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=1050377
retrieved
21 June 2018
The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen
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=1050377
retrieved
21 June 2018
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).
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=1050377
retrieved
21 June 2018
An intron mutation in the human alpha 1(I) collagen gene alters the efficiency of pre-mRNA splicing and is associated with osteogenesis imperfecta type II.
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=1050377
retrieved
21 June 2018
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.
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=1050377
retrieved
21 June 2018
Brittle bones--fragile molecules: disorders of collagen gene structure and expression
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=1050377
retrieved
21 June 2018
The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues
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=1050377
retrieved
21 June 2018
Osteogenesis imperfecta: translation of mutation to phenotype
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=1050377
retrieved
21 June 2018
Changes in apatite crystal size in bones of patients 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=1050377
retrieved
21 June 2018
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen
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=1050377
retrieved
21 June 2018
Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity
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=1050377
retrieved
21 June 2018
Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of 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=1050377
retrieved
21 June 2018
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=1050377
retrieved
21 June 2018
Prenatal diagnosis of the skeletal dysplasias.
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=1050377
retrieved
30 October 2018
Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of 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=1050377
retrieved
30 October 2018
Delayed triple helix formation of mutant collagen from patients 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=1050377
retrieved
30 October 2018
A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away
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=1050377
retrieved
30 October 2018
Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene
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=1050377
retrieved
30 October 2018
Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule
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=1050377
retrieved
30 October 2018
A Gly859Ser substitution in the triple helical domain of the α2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals
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=1050377
retrieved
30 October 2018
Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Osteogenesis imperfecta: insufficient collagen synthesis in early childhood as evidenced by analysis of compact bone and fibroblast cultures
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Mutations that substitute serine for glycine alpha 1-598 and glycine alpha 1-631 in type I procollagen. The effects on thermal unfolding of the triple helix are position-specific and demonstrate that the protein unfolds through a series of cooperati
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Prenatal diagnosis of severe osteogenesis imperfecta
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A tripeptide deletion in the triple-helical domain of the pro alpha 1(I) chain of type I procollagen in a patient with lethal osteogenesis imperfecta does not alter cleavage of the molecule by N-proteinase
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
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
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Collagen fibrils of osteoid in osteogenesis imperfecta: morphometrical analysis of the fibril diameter
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/7643358
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1136/JMG.32.4.284
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
PMC publication ID
1050377
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
PubMed publication ID
7643358
1 reference
stated in
Europe PubMed Central
PMC publication ID
1050377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7643358%20AND%20SRC:MED&resulttype=core&format=json
retrieved
22 October 2019
ResearchGate publication ID
15556514
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