(Q40607229)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6375355%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

review article

1 reference

title

Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6375355%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

main subject

suicide

0 references

osteogenesis imperfecta

0 references

phenotypic heterogeneity

1 reference

D. J. Prockop

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6375355

11 October 2023

language of work or name

English

0 references

publication date

1 May 1984

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6375355%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

10 October 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6375355/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6375355

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/6375355/pdf/?tool=EBI

11 October 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6375355

https://europepmc.org/articles/PMC1684455

11 October 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6375355

https://europepmc.org/articles/PMC1684455?pdf=render

11 October 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6375355

American Journal of Human Genetics

11 October 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6375355%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6375355%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6375355%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

page(s)

499-505

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6375355%20AND%20SRC:MED&resulttype=core&format=json

Isolation and characterization of genomic DNA coding for alpha 2 type I collagen

10 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Osteogenesis imperfecta: promising beginnings and continuing challenges

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Marfan syndrome: abnormal alpha 2 chain in type I collagen

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Human type I procollagen genes are located on different chromosomes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Genetic heterogeneity in osteogenesis imperfecta

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Structure of the pro alpha 2 (I) collagen gene.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684455

Biochemical heterogeneity of osteogenesis imperfecta: New variant

20 August 2018

1 reference

12 December 2020

Isolation and characterization of a 15-kilobase genomic sequence coding for part of the Pro alpha 2 chain of sheep type I collagen

1 reference

12 December 2020

Copy number of a human type I alpha 2 collagen gene

1 reference

12 December 2020

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

12 December 2020

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6375355%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference