(Q67518842)

English

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia

scientific article published on 01 July 1992

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1353052%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1353052%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

cerebellar ataxia

1 reference

based on heuristic

inferred from title

epidermolysis bullosa

1 reference

based on heuristic

inferred from title

epidermolysis bullosa dystrophica

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1353052%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

4

1 reference

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14 September 2019

author name string

R Gardella

2

1 reference

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14 September 2019

N Zoppi

3

1 reference

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14 September 2019

D Marini

5

1 reference

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14 September 2019

N K Spurr

6

1 reference

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14 September 2019

S Barlati

7

1 reference

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14 September 2019

publication date

1 July 1992

1 reference

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14 September 2019

1 reference

Europe PubMed Central

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14 September 2019

89

1 reference

Europe PubMed Central

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14 September 2019

5

1 reference

Europe PubMed Central

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14 September 2019

503-507

1 reference

Europe PubMed Central

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14 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00219174

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Animal model for dermolytic mechanobullous disease: sheep with recessive dystrophic epidermolysis bullosa lack collagen VII.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive dystrophic epidermolysis bullosa. Evidence for increased collagenase as a genetic characteristic in cell culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common MspI RFLP of the human fibronectin gene (FN1).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Study of elastase-type activity in blister fluids of recessive dystrophic epidermolysis bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue cooperation in a proteolytic cascade activating human interstitial collagenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of the genes for human stromelysin and stromelysin 2: differential expression in rheumatoid synovial fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cloning of human synovial cell collagenase and selection of a single gene from genomic DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar ataxia in a family with recurrent epidermolysis bullosa dystrophica

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on the pathogenesis of epidermolysis bullosa.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar ataxia and total albinism

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metalloproteinases and their inhibitors in matrix remodeling

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Anchoring fibrils and type VII collagen are absent from skin in severe recessive dystrophic epidermolysis bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human fibronectin: cell specific alternative mRNA splicing generates polypeptide chains differing in the number of internal repeats.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human skin collagenase in recessive dystrophic epidermolysis bullosa. Purification of a mutant enzyme from fibroblast cultures

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic correction of the defective fibronectin extracellular matrix of Ehlers-Danlos syndrome fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of stromelysin 2 gene to the q22.3-23 region of chromosome 11 by in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sixteen types of epidermolysis bullosa. On the clinical discrimination, therapy and prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recessive dystrophic epidermolysis bullosa: evidence for an altered collagenase in fibroblast cultures

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An estimate of unique DNA sequence heterozygosity in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction fragment length polymorphism analysis and assignment of the metalloproteinases stromelysin and collagenase to the long arm of chromosome 11

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of human stromelysin and collagenase by cloning and sequence analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of fibronectin, plasminogen activators and plasminogen in tear fluid as markers of corneal damage and repair

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The relationship of the biophysical and biochemical characteristics of type VII collagen to the function of anchoring fibrils.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The structure of the human skin fibroblast collagenase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on two siblings with recessive dystrophic epidermolysis bullosa (Hallopeau-Siemens) and the plasminogen activator and its inhibitor in the lesion

1 reference

https://pubmed.ncbi.nlm.nih.gov/1353052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00219174

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1353052%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1353052%20AND%20SRC:MED&resulttype=core&format=json

14 September 2019

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