(Q44226562)

1 December 2017

title

Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. (English)

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1 December 2017

main subject

peeling skin syndrome

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A Mallet

1

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1 December 2017

M Kypriotou

2

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1 December 2017

K George

3

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1 December 2017

E Leclerc

4

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1 December 2017

D Rivero

5

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1 December 2017

J Mazereeuw-Hautier

6

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1 December 2017

G Serre

7

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1 December 2017

M Huber

8

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1 December 2017

N Jonca

9

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1 December 2017

D Hohl

10

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1 December 2017

language of work or name

English

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publication date

1 December 2013

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British Journal of Dermatology

1 December 2017

published in

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1 December 2017

volume

169

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1 December 2017

issue

6

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1 December 2017

page(s)

1322-1325

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

1 December 2017

cites work

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Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

21 January 2018

1 reference

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

21 January 2018

1 reference

Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

A novel mutation in CDSN causes peeling skin disease in a patient from Morocco

21 January 2018

1 reference

Inflammatory peeling skin syndrome caused a novel mutation in CDSN.

21 January 2018

1 reference

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

21 January 2018

1 reference

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin.

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/BJD.12593

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1 December 2017

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