(Q42496331)

1 November 2017

title

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

1 reference

neutral lipid storage disease

1 November 2017

0 references

1 reference

3

Leonard M Milstone

1 reference

1 November 2017

Marianne Demerjian

1

1 reference

1 November 2017

Debra A Crumrine

series ordinal

2

1 reference

1 November 2017

Mary L Williams

series ordinal

4

1 reference

1 November 2017

Peter M Elias

series ordinal

5

1 reference

1 November 2017

language of work or name

English

0 references

publication date

1 June 2006

1 reference

Journal of Investigative Dermatology

1 November 2017

published in

1 reference

1 November 2017

volume

126

1 reference

1 November 2017

issue

9

1 reference

1 November 2017

page(s)

2032-2038

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.jid.5700332

1 November 2017

exact match

0 references

cites work

Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Lipid Bilayers and Biomembranes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Basis for abnormal desquamation and permeability barrier dysfunction in RXLI

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

The secretory granular cell: the outermost granular cell as a specialized secretory cell

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Membrane alterations during cornification of mammalian squamous epithelia: A freeze-fracture, tracer, and thin-section study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Richner-Hanhart's syndrome: new ultrastructural observations on skin lesions of two cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

The early phase of epidermal barrier regeneration is faster in patients with atopic eczema

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

pH directly regulates epidermal permeability barrier homeostasis, and stratum corneum integrity/cohesion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Acylglycerol recycling from triacylglycerol to phospholipid, not lipase activity, is defective in neutral lipid storage disease fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Structural and functional effects of oleic acid and iontophoresis on hairless mouse stratum corneum

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

The keratotic tumors of Cowden's disease: an electronmicroscopic study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Electron microscopy of the effects of dithranol on healthy and on psoriatic skin.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Reduced skin barrier function parallels abnormal stratum corneum lipid organization in patients with lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Exogenous lipids influence permeability barrier recovery in acetone-treated murine skin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Lamellar bodies as delivery systems of hydrolytic enzymes: implications for normal and abnormal desquamation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Skin toxicity of jet fuels: ultrastructural studies and the effects of substance P.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

A simple post-embedding system for the rapid demonstration of tissue antigens under the electron microscope

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Coordinate assembly of lipids and enzyme proteins into epidermal lamellar bodies.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Calorimetric and electron spin resonance examination of lipid phase transitions in human stratum corneum: molecular basis for normal cohesion and abnormal desquamation in recessive X-linked ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Interactions of cholesterol and cholesterol sulfate with free fatty acids: possible relevance for the pathogenesis of recessive X-linked ichthyosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Permeability barrier disorder in Niemann-Pick disease: sphingomyelin-ceramide processing required for normal barrier homeostasis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Novel ALDH3A2 heterozygous mutations are associated with defective lamellar granule formation in a Japanese family of Sjögren-Larsson syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Osmium tetroxide and ruthenium tetroxide are complementary reagents for the preparation of epidermal samples for transmission electron microscopy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Ichthyosis: mechanisms of disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Ichthyosis and neutral lipid storage disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

CGI-58 interacts with perilipin and is localized to lipid droplets. Possible involvement of CGI-58 mislocalization in Chanarin-Dorfman syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Extensive pityriasis alba: a histological histochemical and ultrastructural study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700332

7 January 2021

Identifiers

DOI

10.1038/SJ.JID.5700332

1 reference

1 November 2017

1 reference