(Q24294533)

GOA release 2020-03-11

skin morphogenesis

1 reference

GOA release 2020-03-11

1 reference

9

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Hans Christian Hennies

14

Hans Christian Hennies

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Marc Nätebus

4

Marc Nätebus

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Regina Fölster-Holst

10

Regina Fölster-Holst

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Monika Schäfer-Korting

11

Monika Schäfer-Korting

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Vinzenz Oji

Vinzenz Oji

1

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author name string

Katja-Martina Eckl

2

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Karin Aufenvenne

3

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Tatjana Tarinski

5

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Katharina Ackermann

6

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Natalia Seller

7

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Dieter Metze

8

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Regina Fölster-Holst

10

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Ingrid Hausser

12

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Heiko Traupe

American Journal of Human Genetics

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

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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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

Quantitative structure-permeability relationships (QSPRs) for percutaneous absorption

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

27 September 2017

Peeling skin syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

Polycyclic aromatic hydrocarbon mutagenesis of human epidermal keratinocytes in culture

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

The Phenion full-thickness skin model for percutaneous absorption testing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917721

GRR: graphical representation of relationship errors

29 November 2018

1 reference

12 December 2020

Ichthyosiform dermatosis with superficial blister formation and peeling: evidence for a desmosomal anomaly and altered epidermal vitamin A metabolism

1 reference

12 December 2020

Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome

1 reference

12 December 2020

A case of peeling skin syndrome successfully treated with topical calcipotriol

1 reference

12 December 2020

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

1 reference

12 December 2020

Inflammatory peeling skin syndrome studied with electron microscopy

1 reference

12 December 2020

Familial continual skin peeling

1 reference

12 December 2020

The peeling skin syndrome

1 reference

12 December 2020

Skin peeling syndrome in a Kurdish family

1 reference

12 December 2020

Peeling skin syndrome

1 reference

12 December 2020

Peeling skin syndrome: a clinical, ultrastructural and biochemical study

1 reference

12 December 2020

10.1016/J.AJHG.2010.07.005

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

20691404

1 reference