Inversa Dystrophic Epidermolysis Bullosa Is Caused by Missense Mutations at Specific Positions of the Collagenic Domain of Collagen Type VII (Q57554976)

From Wikidata

Jump to navigation Jump to search

scientific article published on 17 June 2010

Language	Label	Description	Also known as
English	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

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

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

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

epidermolysis bullosa

1 reference

based on heuristic

inferred from title

Jean-Philippe Lacour

6

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

Guerrino Meneguzzi

7

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

Christine Chiaverini

1

object named as

Christine Chiaverini

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

author name string

Monia Youssef

3

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

Jean-François Cuny

4

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

Alexandra V Charlesworth

2

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

Smail H Rabia

5

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

language of work or name

0 references

publication date

17 June 2010

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

Journal of Investigative Dermatology

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

130

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

10

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

2508-2511

1 reference

Europe PubMed Central

PubMed publication ID

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

5 February 2020

Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.159

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JID.2010.159

1 reference

Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

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

5 February 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q57554976&oldid=2222979714"