(Q35195722)

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Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen

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1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Ehlers-Danlos syndrome

0 references

Ehlers-Danlos syndrome, dermatosparaxis type

1 reference

based on heuristic

inferred from title

author name string

L T Smith

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

W Wertelecki

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

L M Milstone

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

E M Petty

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

M R Seashore

5

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

I M Braverman

6

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

T G Jenkins

7

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

P H Byers

8

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

language of work or name

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publication date

1 August 1992

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

7 August 2017

51

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Europe PubMed Central

PubMed publication ID

7 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

235-244

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Procollagen peptidase: an enzyme excising the coordination peptides of procollagen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

A hereditary dysplasia of collagen tissues in sheep.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Type I procollagen N-proteinase from chick embryo tendons. Purification of a new 500-kDa form of the enzyme and identification of the catalytically active polypeptides.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

Skin in dermatosparaxis. Dermal microarchitecture and biomechanical properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

26 September 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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682688

26 September 2018

In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII

1 reference

https://pubmed.ncbi.nlm.nih.gov/1642226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Procollagen N-proteinase. Properties of the enzyme purified from chick embryo tendons

1 reference

https://pubmed.ncbi.nlm.nih.gov/1642226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Collagen Made of Extended alpha-Chains, Procollagen, in Genetically-Defective Dermatosparaxic Calves

1 reference

https://pubmed.ncbi.nlm.nih.gov/1642226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

1 reference

https://pubmed.ncbi.nlm.nih.gov/1642226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/1642226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII

1 reference

https://pubmed.ncbi.nlm.nih.gov/1642226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1642226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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