(Q52828944)

8 May 2018

title

Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. (English)

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8 May 2018

main subject

cell line

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Ehlers-Danlos syndrome

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author

Peter H. Byers

4

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8 May 2018

author name string

A Superti-Furga

1

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8 May 2018

B Steinmann

2

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8 May 2018

F Ramirez

3

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8 May 2018

publication date

1 May 1989

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8 May 2018

published in

Human Genetics

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8 May 2018

volume

82

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8 May 2018

page(s)

104-108

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8 May 2018

issue

2

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8 May 2018

describes a project that uses

Cor Per

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Es Ke

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exact match

https://scigraph.springernature.com/pub.10.1007/bf00284038

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cites work

Patients with Ehlers-Danlos syndrome type IV lack type III collagen

1 reference

12 December 2020

Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolism

1 reference

12 December 2020

Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule

1 reference

12 December 2020

Molecular basis of inherited disorders of collagen biosynthesis: implications for prenatal diagnosis

1 reference

12 December 2020

Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts

1 reference

12 December 2020

Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen

1 reference

12 December 2020

Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases

1 reference

12 December 2020

Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen

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12 December 2020

Human collagens: biochemical, molecular and genetic features in normal and diseased states

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12 December 2020

Inheritance of Ehlers-Danlos type IV syndrome

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12 December 2020

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

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12 December 2020

Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence

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12 December 2020

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

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12 December 2020

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

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12 December 2020

Low production of procollagen III by skin fibroblasts from patients with Ehlers-Danlos syndrome type IV is not caused by decreased levels of procollagen III mRNA.

1 reference

12 December 2020

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

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12 December 2020

Proteolytic enzymes as probes for the triple-helical conformation of procollagen

1 reference

12 December 2020

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

1 reference

12 December 2020

Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen

1 reference

12 December 2020

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

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12 December 2020

Cloning and analysis of the 5' portion of the human type-III procollagen gene (COL3A1).

1 reference

12 December 2020

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

12 December 2020

Identifiers

DOI

10.1007/BF00284038

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8 May 2018

PubMed ID

2722184

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8 May 2018