Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function (Q34838614)

4 August 2017

title

Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function (English)

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4 August 2017

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14

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4 August 2017

Richard B Presland

7

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Matthias Schmuth

object named as

Matthias Schmuth

15

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Andreas Janecke

object named as

Andreas R Janecke

9

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Michael Mildner

object named as

Michael Mildner

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author name string

Robert Gruber

1

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4 August 2017

Peter M Elias

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4 August 2017

Debra Crumrine

3

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4 August 2017

Tzu-Kai Lin

4

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4 August 2017

Johanna M Brandner

5

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4 August 2017

Jean-Pierre Hachem

6

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4 August 2017

Philip Fleckman

8

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4 August 2017

Aileen Sandilands

10

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4 August 2017

W H Irwin McLean

11

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4 August 2017

Peter O Fritsch

12

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4 August 2017

language of work or name

English

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publication date

1 May 2011

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The American Journal of Pathology

4 August 2017

published in

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4 August 2017

volume

178

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4 August 2017

issue

5

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4 August 2017

page(s)

2252-2263

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Is the filaggrin-histidine-urocanic acid pathway essential for stratum corneum acidification?

4 August 2017

cites work

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Filaggrin deficiency confers a paracellular barrier abnormality that reduces inflammatory thresholds to irritants and haptens

8 July 2018

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Filaggrin-deficient mice exhibit TH17-dominated skin inflammation and permissiveness to epicutaneous sensitization with protein antigen

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8 July 2018

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

8 July 2018

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The skin: an indispensable barrier

8 July 2018

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Filaggrin and the great epidermal barrier grief

8 July 2018

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8 July 2018

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8 July 2018

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Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders

8 July 2018

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The skin barrier as an innate immune element

8 July 2018

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Cytokine modulation of atopic dermatitis filaggrin skin expression

8 July 2018

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Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

8 July 2018

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Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis

8 July 2018

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

8 July 2018

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Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).

8 July 2018

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Epidermal barrier formation and recovery in skin disorders

8 July 2018

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Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome

8 July 2018

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

8 July 2018

1 reference

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

8 July 2018

1 reference

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Stratum corneum defensive functions: an integrated view

8 July 2018

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Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis).

8 July 2018

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EEMCO guidance for the in vivo assessment of skin surface pH.

8 July 2018

1 reference

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Origin of the epidermal calcium gradient: regulation by barrier status and role of active vs passive mechanisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

The aged epidermal permeability barrier: basis for functional abnormalities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Gene targeting of envoplakin, a cytoskeletal linker protein and precursor of the epidermal cornified envelope

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Reduced stability and bi-allelic, coequal expression of profilaggrin mRNA in keratinocytes cultured from subjects with ichthyosis vulgaris

8 July 2018

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Percutaneous sensitization with allergens through barrier-disrupted skin elicits a Th2-dominant cytokine response

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Inability of keratinocytes lacking their specific transglutaminase to form cross-linked envelopes: absence of envelopes as a simple diagnostic test for lamellar ichthyosis

8 July 2018

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Altered Permeability and Disordered Cutaneous Immunoregulatory Function in Mice with Acute Barrier Disruption

8 July 2018

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Transient expression of epidermal filaggrin in cultured cells causes collapse of intermediate filament networks with alteration of cell shape and nuclear integrity

8 July 2018

1 reference

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Stratum corneum architecture, metabolic activity and interactivity with subjacent cell layers

8 July 2018

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Is filaggrin really a filament-aggregating protein in vivo?

8 July 2018

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Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate

8 July 2018

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Selective obliteration of the epidermal calcium gradient leads to enhanced lamellar body secretion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Characterization of a class of cationic proteins that specifically interact with intermediate filaments

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Filaggrin breakdown to water binding compounds during development of the rat stratum corneum is controlled by the water activity of the environment.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Lamellar granule extrusion and stratum corneum intercellular lamellae in murine keratinocyte cultures

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Transepidermal water loss in dry and clinically normal skin in patients with atopic dermatitis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Stereological studies of desmosomes in ichthyosis vulgaris

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Localization of calcium in murine epidermis following disruption and repair of the permeability barrier

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Studies on skin surface barrier functions:--skin surface lipids and transepidermal water loss in atopic skin during childhood

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Knockdown of filaggrin impairs diffusion barrier function and increases UV sensitivity in a human skin model

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Induction of eosinophil- and Th2-attracting epidermal chemokines and cutaneous late-phase reaction in tape-stripped skin.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

The regulation of permeability barrier homeostasis

26 October 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Sustained serine proteases activity by prolonged increase in pH leads to degradation of lipid processing enzymes and profound alterations of barrier function and stratum corneum integrity

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Expression of stratum corneum chymotryptic enzyme in ichthyoses and squamoproliferative processes

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Basis for the permeability barrier abnormality in lamellar ichthyosis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Generation of free fatty acids from phospholipids regulates stratum corneum acidification and integrity

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Low humidity stimulates epidermal DNA synthesis and amplifies the hyperproliferative response to barrier disruption: implication for seasonal exacerbations of inflammatory dermatoses.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Colorimetric Method for Quantifying Human Stratum Corneum Removed by Adhesive-Tape-Stripping

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Formation of the Epidermal Calcium Gradient Coincides with Key Milestones of Barrier Ontogenesis in the Rodent

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Evidence that filaggrin is a component of cornified cell envelopes in human plantar epidermis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

The prevalence of accentuated palmoplantar markings and keratosis pilaris in atopic dermatitis, autosomal dominant ichthyosis and control dermatological patients

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Membrane structures in normal and essential fatty acid-deficient stratum corneum: characterization by ruthenium tetroxide staining and x-ray diffraction

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Gene silencing in a human organotypic skin model

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3081164

Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort

9 December 2018

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12 December 2020

Filaggrin linker segment peptide and cystatin alpha are parts of a complex of the cornified envelope of epidermis

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12 December 2020

Microwave incubation improves lipolytic enzyme preservation for ultrastructural cytochemistry

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12 December 2020

The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the "acid skin mantle"?

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12 December 2020

On assessment of skin reactivity using electrical impedance

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12 December 2020

Loss-of-Function Mutations in the Filaggrin Gene Lead to Reduced Level of Natural Moisturizing Factor in the Stratum Corneum

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12 December 2020

Ichthyosis vulgaris: novelFLGmutations in the German population and high presence of CD1a cells in the epidermis of the atopic subgroup

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12 December 2020

Evidence for the existence of a self-regulated enzymatic process within the human stratum corneum -an unexpected role for urocanic acid

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12 December 2020

Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes

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12 December 2020

Absence of the granular layer and keratohyalin define a morphologically distinct subset of individuals with ichthyosis vulgaris

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12 December 2020

Ichthyosiform dermatoses. 3. Studies of transepidermal water loss

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12 December 2020

Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis

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12 December 2020

Retinoid effects on epidermal structure, differentiation, and permeability

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Hyperlinear palms: association with ichthyosis and atopic dermatitis

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12 December 2020

[Clinical features and genetics of the ichthyosis vulgaris group]

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12 December 2020

The barrier function in atopic dry skin. Disturbance of membrane-coating granule exocytosis and formation of epidermal lipids?

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12 December 2020

Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules

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12 December 2020

Cytochemical and biochemical localization of lipase and sphingomyelinase activity in mammalian epidermis

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12 December 2020

Guidelines for transepidermal water loss (TEWL) measurement. A report from the Standardization Group of the European Society of Contact Dermatitis

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12 December 2020

Skin barrier function and allergic risk

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12 December 2020

Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis

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12 December 2020

10.1016/J.AJPATH.2011.01.053

Identifiers

DOI

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4 August 2017

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4 August 2017

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