(Q52619158)

4 May 2018

title

Inflammatory peeling skin syndrome caused a novel mutation in CDSN. (English)

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4 May 2018

main subject

peeling skin syndrome

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Dana Fuchs Telem

1

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4 May 2018

Shirli Israeli

series ordinal

2

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4 May 2018

Ofer Sarig

series ordinal

3

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4 May 2018

Eli Sprecher

series ordinal

4

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4 May 2018

publication date

7 December 2011

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4 May 2018

Archives of Dermatological Research

published in

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4 May 2018

volume

304

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4 May 2018

issue

3

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4 May 2018

page(s)

251-255

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4 May 2018

https://scigraph.springernature.com/pub.10.1007/s00403-011-1195-z

exact match

0 references

cites work

Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis.

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

Cathepsin D, but not cathepsin E, degrades desmosomes during epidermal desquamation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

Carrier matching and collective socialization in community genetics: Dor Yeshorim and the reinforcement of stigma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

An economic method for the fluorescent labeling of PCR fragments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

Identification of Late Differentiation Antigens of Human Cornified Epithelia, Expressed in Re-Organized Desmosomes and Bound to Cross-Linked Envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

Corneodesmosin (CDSN) gene association with psoriasis vulgaris in Caucasian but not in Japanese populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-011-1195-Z

10.1007/S00403-011-1195-Z

21 January 2018

Identifiers

DOI

1 reference

4 May 2018

1 reference

4 May 2018