(Q36870973)

English

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

scientific article published on 21 May 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Ehlers-Danlos syndrome

0 references

osteogenesis imperfecta

0 references

10

object named as

Anne De Paepe

0 references

Fransiska Malfait

1

object named as

Fransiska Malfait

0 references

object named as

Geert Mortier

7

0 references

Sheela Nampoothiri

object named as

Sheela Nampoothiri

8

1 reference

ORCID Public Data File 2021

author name string

Sofie Symoens

2

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Nathalie Goemans

3

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Yolanda Gyftodimou

4

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Eva Holmberg

5

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Vanesa López-González

6

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Michael Bjorn Petersen

9

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

publication date

21 May 2013

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

8

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

78

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

29 September 2017

New perspectives on osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

29 September 2017

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

29 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

29 September 2017

The Human Collagen Mutation Database 1998.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

29 September 2017

Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

27 June 2018

Mutations that alter the primary structure of type I procollagen have long-range effects on its cleavage by procollagen N-proteinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

27 June 2018

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

27 June 2018

The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

4 September 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

4 September 2018

Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

4 September 2018

A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3662563

4 September 2018

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-78

21 January 2018

Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms

1 reference

https://pubmed.ncbi.nlm.nih.gov/23692737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

1 reference

https://pubmed.ncbi.nlm.nih.gov/23692737

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

https://pubmed.ncbi.nlm.nih.gov/23692737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2

1 reference

https://pubmed.ncbi.nlm.nih.gov/23692737

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-8-78

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

16 August 2017

ResearchGate publication ID

0 references

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