(Q57554976)

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Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII

scientific article published on 17 June 2010

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5 February 2020

Inversa dystrophic epidermolysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII (English)

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5 February 2020

epidermolysis bullosa

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Jean-Philippe Lacour

6

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5 February 2020

Guerrino Meneguzzi

7

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5 February 2020

Christine Chiaverini

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Christine Chiaverini

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5 February 2020

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Monia Youssef

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5 February 2020

Jean-François Cuny

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5 February 2020

Alexandra V Charlesworth

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5 February 2020

Smail H Rabia

5

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5 February 2020

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17 June 2010

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5 February 2020

Journal of Investigative Dermatology

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5 February 2020

130

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5 February 2020

10

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5 February 2020

2508-2511

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5 February 2020

Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors

1 reference

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Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin.

1 reference

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Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

1 reference

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The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

1 reference

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Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.

1 reference

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Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

1 reference

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Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

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Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

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Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders

1 reference

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Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges

1 reference

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Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis

1 reference

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7 January 2021

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10.1038/JID.2010.159

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20555349%20AND%20SRC:MED&resulttype=core&format=json

5 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

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5 February 2020

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