Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease (Q24294533)

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

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instance of

scholarly article

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title

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

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main subject

Corneodesmosin

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stated in

GOA release 2020-03-11

skin morphogenesis

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stated in

GOA release 2020-03-11

skin disease

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based on heuristic

inferred from title

author

Gudrun Nürnberg

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9

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Hans Christian Hennies

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14

object named as

Hans Christian Hennies

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Marc Nätebus

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4

object named as

Marc Nätebus

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Regina Fölster-Holst

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10

object named as

Regina Fölster-Holst

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Monika Schäfer-Korting

series ordinal

11

object named as

Monika Schäfer-Korting

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Vinzenz Oji

object named as

Vinzenz Oji

series ordinal

1

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author name string

Katja-Martina Eckl

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2

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Karin Aufenvenne

series ordinal

3

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Tatjana Tarinski

series ordinal

5

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Katharina Ackermann

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6

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Natalia Seller

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7

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Dieter Metze

series ordinal

8

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Regina Fölster-Holst

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10

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Ingrid Hausser

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12

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Heiko Traupe

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13

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language of work or name

English

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publication date

13 August 2010

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published in

American Journal of Human Genetics

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volume

87

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issue

2

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page(s)

274-81

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cites work

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

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The use of reconstructed human epidermis for skin absorption testing: Results of the validation study

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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

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

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

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Evidence for a role of corneodesmosin, a protein which may serve to modify desmosomes during cornification, in stratum corneum cell cohesion and desquamation

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

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

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

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

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Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

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Elevated Human Tissue Kallikrein Levels in the Stratum Corneum and Serum of Peeling Skin Syndrome-Type B Patients Suggests an Over-desquamation of Corneocytes

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12 December 2020

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A case of peeling skin syndrome successfully treated with topical calcipotriol

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reference URL

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12 December 2020

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Reconstructed human epidermis for skin absorption testing: results of the German prevalidation study

1 reference

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PubMed

reference URL

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12 December 2020

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inferred from PubMed ID database lookup

Inflammatory peeling skin syndrome studied with electron microscopy

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PubMed

reference URL

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12 December 2020

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Familial continual skin peeling

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stated in

PubMed

reference URL

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retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The peeling skin syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20691404

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Skin peeling syndrome in a Kurdish family

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20691404

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peeling skin syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20691404

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peeling skin syndrome: a clinical, ultrastructural and biochemical study

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stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/20691404

retrieved

12 December 2020

based on heuristic

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Identifiers

DOI

10.1016/J.AJHG.2010.07.005

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2747170

OpenCitations bibliographic resource ID

2747170

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2747170

PMC publication ID

2917721

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2747170

PubMed publication ID

20691404

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2747170

ResearchGate publication ID

45536036

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