(Q83060155)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

main subject

peeling skin syndrome

1 reference

Shirli Israeli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Hadas Zamir

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Ofer Sarig

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Reuven Bergman

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Eli Sprecher

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

30 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

19 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

779-781

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21191406%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/jid.2010.363

19 January 2020

exact match

0 references

cites work

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

A 4.2 kb upstream region of the human corneodesmosin gene directs site-specific expression in hair follicles and hyperkeratotic epidermis of transgenic mice

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Skin peeling syndrome in a Kurdish family

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Novel genetic association between the corneodesmosin (MHC S) gene and susceptibility to psoriasis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021

Epidermal detachment, desmosomal dissociation, and destabilization of corneodesmosin in Spink5-/- mice

1 reference

https://api.crossref.org/works/10.1038%2FJID.2010.363

7 January 2021