(Q24338930)

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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

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scholarly article

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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 (English)

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Ehlers-Danlos syndrome

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Collagen type I alpha 2 chain

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GOA release 2020-03-11

collagen type I alpha 1 chain

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GOA release 2020-03-11

skin morphogenesis

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GOA release 2020-03-11

8

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Fransiska Malfait

1

object named as

Fransiska Malfait

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Julie De Backer

object named as

Julie De Backer

3

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Natzi Sakalihasan

5

object named as

Natzi Sakalihasan

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author name string

Sofie Symoens

2

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Trinh Hermanns-Lê

4

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Charles M Lapière

6

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Paul Coucke

7

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language of work or name

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publication date

April 2007

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28

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4

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387-95

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Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity

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https://api.crossref.org/works/10.1002%2FHUMU.20455

21 January 2018

Type-III procollagen assembly in semi-intact cells: chain association, nucleation and triple-helix folding do not require formation of inter-chain disulphide bonds but triple-helix nucleation does require hydroxylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

21 January 2018

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://api.crossref.org/works/10.1002%2FHUMU.20455

21 January 2018

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstab

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen II containing a Cys substitution for Arg-alpha1-519: abnormal interactions of the mutated molecules with collagen IX

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic Comparison of an Osteogenesis Imperfecta Type IV Proband with ade Novoα2(I) Gly922 → Ser Substitution in Type I Collagen and an Unrelated Patient with an Identical Mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Xaa-Arg-Gly triplets in the collagen triple helix are dominant binding sites for the molecular chaperone HSP47.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Changes in thermal stability and microunfolding pattern of collagen helix resulting from the loss of alpha2(I) chain in osteogenesis imperfecta murine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen model peptides: Sequence dependence of triple-helix stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Prediction of collagen stability from amino acid sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteogenesis imprefecta and type-I collagen mutations. A lethal variant caused by a Gly910Ala substitution in the alpha1(I) chain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Potential modifier role of the R618Q variant of proalpha2(I)collagen in type I collagen fibrillogenesis: in vitro assembly analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20455

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20455

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