Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype (Q34210703)

31 July 2017

title

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype (English)

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recessive dystrophic epidermolysis bullosa

31 July 2017

main subject

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author name string

Hovnanian A

1

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31 July 2017

Duquesnoy P

2

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31 July 2017

Amselem S

3

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31 July 2017

Blanchet-Bardon C

4

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31 July 2017

Lathrop M

5

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31 July 2017

Dubertret L

6

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31 July 2017

Goossens M

7

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31 July 2017

language of work or name

English

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publication date

1 November 1991

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Journal of Clinical Investigation

31 July 2017

published in

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31 July 2017

volume

88

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31 July 2017

issue

5

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31 July 2017

page(s)

1716-1721

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Studies on the pathogenesis of epidermolysis bullosa.

31 July 2017

cites work

1 reference

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5 July 2018

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Epidermolysis bullosa: a review

5 July 2018

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

5 July 2018

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Phenytoin therapy of recessive dystrophic epidermolysis bullosa. Clinical trial and proposed mechanism of action on collagenase

5 July 2018

1 reference

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Enhanced biosynthesis of human skin collagenase in fibroblast cultures from recessive dystrophic epidermolysis bullosa

5 July 2018

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Human skin collagenase: relationship to the pathogenesis of epidermolysis bullosa dystrophica.

5 July 2018

1 reference

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Is there any specificity to defects of anchoring fibrils in epidermolysis bullosa dystrophica, and what does this mean in terms of pathogenesis?

5 July 2018

1 reference

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Type VII collagen is a major structural component of anchoring fibrils

5 July 2018

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Detection and localization of single base changes by denaturing gradient gel electrophoresis

5 July 2018

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Changing clinical and laboratory concepts in inherited epidermolysis bullosa

5 July 2018

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5 July 2018

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Human fibroblast collagenase. Complete primary structure and homology to an oncogene transformation-induced rat protein

5 July 2018

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Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

5 July 2018

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The structure of the human skin fibroblast collagenase gene

5 July 2018

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Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior

5 July 2018

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The carboxyl-terminal domain of type VII collagen is present at the basement membrane in recessive dystrophic epidermolysis bullosa

5 July 2018

1 reference

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

5 July 2018

1 reference

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

5 July 2018

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

5 July 2018

1 reference

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Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

5 July 2018

1 reference

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Epidermolysis Bullosa Dystrophica-Recessive: A Possible Role Of Anchoring Fibrils In The Pathogenesis

5 July 2018

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DNA sequencing with chain-terminating inhibitors

5 July 2018

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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The role of human skin collagenase in epidermolysis bullosa

5 July 2018

1 reference

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Clinical heterogeneity in epidermolysis bullosa: speculations on causation and consequence for research

5 July 2018

1 reference

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

28 October 2018

1 reference

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A perspective on the role of collagenase in recessive dystrophic epidermolysis bullosa

28 October 2018

1 reference

12 December 2020

Antenatal diagnosis of recessive dystrophic epidermolysis bullosa: collagenase expression in cultured fibroblasts as a biochemical marker

1 reference

12 December 2020

Collagenase in recessive dystrophic epidermolysis bullosa

1 reference

12 December 2020

Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa

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12 December 2020

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

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12 December 2020

Collagenase expression in skin fibroblasts from families with recessive dystrophic epidermolysis bullosa

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12 December 2020

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

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12 December 2020

Type VII collagen is a normal component of epidermal basement membrane, which shows altered expression in recessive dystrophic epidermolysis bullosa

1 reference

12 December 2020

Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis

1 reference

12 December 2020

Enhanced Cell-Free Translation of Human Skin Collagenase in Recessive Dystrophic Epidermolysis Bullosa

1 reference

12 December 2020

Collagenase and connective tissue metabolism in epidermolysis bullosa

1 reference

12 December 2020

Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type)

1 reference

12 December 2020

Abnormalities in Collagenase Expression as in Vitro Markers for Recessive Dystrophic Epidermolysis Bullosa

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI115489

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31 July 2017

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31 July 2017

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