(Q22010416)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

ADAM metallopeptidase with thrombospondin type 1 motif 2

10 December 2019

main subject

Ehlers-Danlos syndrome

0 references

1 reference

metallopeptidase activity

GOA release 2020-03-11

1 reference

Ehlers-Danlos syndrome, arthrochalasis type

GOA release 2020-03-11

1 reference

Ehlers-Danlos syndrome, dermatosparaxis type

inferred from title

1 reference

2

A L Sieron

A L

Sieron

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

11

P H Byers

P H

Byers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

A Colige

1

A

Colige

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

S W Li

3

S W

Li

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

U Schwarze

4

U

Schwarze

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

E Petty

5

E

Petty

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

W Wertelecki

6

W

Wertelecki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

W Wilcox

7

W

Wilcox

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

D Krakow

8

D

Krakow

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

D H Cohn

9

D H

Cohn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

W Reardon

10

W

Reardon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

C M Lapière

12

C M

Lapière

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

D J Prockop

13

D J

Prockop

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

B V Nusgens

14

B V

Nusgens

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 August 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

65

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

308-317

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

The role of the C-terminal domain of human collagenase-3 (MMP-13) in the activation of procollagenase-3, substrate specificity, and tissue inhibitor of metalloproteinase interaction

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Bone morphogenetic protein-1: the type I procollagen C-proteinase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Procollagen peptidase: an enzyme excising the coordination peptides of procollagen

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

A deletion in the bovine myostatin gene causes the double-muscled phenotype in cattle

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

cDNA cloning and expression of bovine procollagen I N-proteinase: a new member of the superfamily of zinc-metalloproteinases with binding sites for cells and other matrix components.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Biological activities of peptides and peptide analogues derived from common sequences present in thrombospondin, properdin, and malarial proteins

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Dermatosparaxis in children. A case report and review of the newly recognized phenotype

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Regulation of transforming growth factor-beta activation by discrete sequences of thrombospondin 1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Tenascin-X deficiency is associated with Ehlers-Danlos syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377929

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

29 November 2018

1 reference

12 December 2020

Are X-linked cutis laxa and Menkes disease allelic?

1 reference

12 December 2020

Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis

1 reference

12 December 2020

Characterization and partial amino acid sequencing of a 107-kDa procollagen I N-proteinase purified by affinity chromatography on immobilized type XIV collagen

1 reference

12 December 2020

Transforming growth factor-beta regulation of bone morphogenetic protein-1/procollagen C-proteinase and related proteins in fibrogenic cells and keratinocytes

1 reference

12 December 2020

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

1 reference

12 December 2020

Skin in dermatosparaxis. Dermal microarchitecture and biomechanical properties

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302504

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302504

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

release_4xs7rvyz7bgrpkdrdl44nq3ghu

10 December 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4xs7rvyz7bgrpkdrdl44nq3ghu

24 November 2022

mapped directly with Wikidata item

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10417273%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

2 references