Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism (Q24616344)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18245815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

review article

1 reference

title

Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18245815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

0 references

1 reference

5

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2 January 2020

author name string

Peter M Elias

1

1 reference

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2 January 2020

Mary L Williams

2

1 reference

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2 January 2020

Walter M Holleran

3

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2 January 2020

Yan J Jiang

4

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2 January 2020

language of work or name

English

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publication date

2 February 2008

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Journal of Lipid Research

2 January 2020

published in

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2 January 2020

volume

49

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2 January 2020

issue

4

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2 January 2020

page(s)

697-714

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PPAR and LXR activators regulate ABCA12 expression in human keratinocytes

2 January 2020

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Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome

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A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

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Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3

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Identification of PEX7 as the second gene involved in Refsum disease

7 April 2017

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ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

7 April 2017

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

7 April 2017

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Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

7 April 2017

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Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

7 April 2017

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Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

7 April 2017

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Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

7 April 2017

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Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis

7 April 2017

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An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry

7 April 2017

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Structure of an ABC transporter in complex with its binding protein

7 April 2017

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Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

7 April 2017

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Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

7 April 2017

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Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome

7 April 2017

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Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes

7 April 2017

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7 April 2017

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ABCA12 is the major harlequin ichthyosis gene

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

7 April 2017

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7 April 2017

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12R-lipoxygenase deficiency disrupts epidermal barrier function

7 April 2017

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

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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27 September 2017

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Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis

27 September 2017

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27 September 2017

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

27 September 2017

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27 September 2017

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The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases.

27 September 2017

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27 September 2017

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Cholesterol sulfate in human physiology: what's it all about?

27 September 2017

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27 September 2017

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27 September 2017

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Sulfonation and molecular action

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27 September 2017

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

27 September 2017

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Pathophysiological role of leukotrienes in dermatological diseases: potential therapeutic implications.

27 September 2017

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Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome

27 September 2017

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A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression

27 September 2017

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Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

27 September 2017

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Cholesterol sulfate, an activator of protein kinase C mediating squamous cell differentiation: a review

27 September 2017

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Type 2 Gaucher disease: the collodion baby phenotype revisited

27 September 2017

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Roles for tumor necrosis factor receptor p55 and sphingomyelinase in repairing the cutaneous permeability barrier

27 September 2017

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The pathogenesis of severe congenital ichthyosis of the neonate

27 September 2017

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Epidermal pathogenesis of inflammatory dermatoses

27 September 2017

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

27 September 2017

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Glucosylceramides stimulate murine epidermal hyperproliferation.

27 September 2017

1 reference

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Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Human stratum corneum lipids: characterization and regional variations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Lipid Bilayers and Biomembranes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Netherton's syndrome. Report of a case and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Lyonization and the lines of Blaschko

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Genetically transmitted, generalized disorders of cornification. The ichthyoses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

The extracellular matrix of stratum corneum: role of lipids in normal and pathological function.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Contiguous gene syndromes: a component of recognizable syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Molecular studies of deletions at the human steroid sulfatase locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Human placental sterylsulfatase: immunocytochemical and biochemical localization.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

A long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Cholesterol synthesis is required for cutaneous barrier function in mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

The regulation and role of epidermal lipid synthesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Lipids in normal and pathological desquamation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Structural and lipid biochemical correlates of the epidermal permeability barrier

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Peroxisomal abnormality in fibroblasts from involved skin of CHILD syndrome. Case study and review of peroxisomal disorders in relation to skin disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Epidermal lipids and scaling diseases of the skin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Ichthyosis: mechanisms of disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

X-linked icthyosis. A sulphatase deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

X-linked dominant chondrodysplasia punctata. Review of literature and report of a case

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Regional assignment of the steroid sulfatase—X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Steroid-sulfatase deficiency in sex-linked ichthyosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

X-linked ichthyosis due to steroid-sulphatase deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Cholesterol sulfate, a novel activator for the eta isoform of protein kinase C.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Human stratum corneum polar lipids and desquamation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Ontogeny of the epidermal permeability barrier.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Involvement of microsomal fatty aldehyde dehydrogenase in the alpha-oxidation of phytanic acid

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Diazacholesterol-induced ichthyosis in the hairless mouse. I. Morphologic, histochemical, and lipid biochemical characterization of a new animal model

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Neutral lipid storage disease with ichthyosis. Defective lamellar body contents and intracellular dispersion

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Accumulation of cholesterol 3-sulfate during in vitro squamous differentiation of rabbit tracheal epithelial cells and its regulation by retinoids.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Ichthyosis congenita type III. Clinical and ultrastructural characteristics and distinction within the heterogeneous ichthyosis congenita group.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Metabolism of 3H-dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Action of phorbol esters, bryostatins, and retinoic acid on cholesterol sulfate synthesis: relation to the multistep process of differentiation in human epidermal keratinocytes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Increased cholesterol sulfate and cholesterol sulfotransferase activity in relation to the multi-step process of differentiation in human epidermal keratinocytes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Density-dependent variations in the lipid content and metabolism of cultured human keratinocytes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Neutral lipid storage disease: a possible functional defect in phospholipid- linked triacylglycerol metabolism

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Membrane structural abnormalities in the stratum corneum of the autosomal recessive ichthyoses

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Abnormal Lamellar Granules in Harlequin Ichthyosis

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Lamellar body-enriched fractions from neonatal mice: preparative techniques and partial characterization.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Basis for the permeability barrier abnormality in lamellar ichthyosis.

30 May 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrier.

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

LXR and PPAR activators stimulate cholesterol sulfotransferase type 2 isoform 1b in human keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

Pemphigoid in domestic animals

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

Nutritional status and gastrointestinal structure and function in children with ichthyosis and growth failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

Cholesterol sulfate, an activator of protein kinase C mediating squamous cell differentiation: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1194%2FJLR.R800002-JLR200

Cholesterol sulfate stimulates involucrin transcription in keratinocytes by increasing Fra-1, Fra-2, and Jun D.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Sjögren-Larsson syndrome: accumulation of free fatty alcohols in cultured fibroblasts and plasma

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

X-linked dominant ichthyosis with peroxisomal deficiency. An ultrastructural and ultracytochemical study of the Conradi-Hünermann syndrome and its murine homologue, the bare patches mouse

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Specific protein kinase C isozymes mediate the induction of keratinocyte differentiation markers by calcium.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

Ichthyosis, mental retardation, and asymptomatic spasticity. A new neurocutaneous syndrome with normal fatty alcohol:NAD+ oxidoreductase activity.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844331

The ichthyosiform dermatoses. II. Autoradiographic studies of epidermal proliferation

28 November 2018

1 reference

12 December 2020

The mammalian cutaneous permeability barrier: defective barrier function is essential fatty acid deficiency correlates with abnormal intercellular lipid deposition

1 reference

12 December 2020

The permeability barrier in essential fatty acid deficiency: evidence for a direct role for linoleic acid in barrier function

1 reference

12 December 2020

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1 reference

12 December 2020

Percutaneous transport in relation to stratum corneum structure and lipid composition

1 reference

12 December 2020

X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein

1 reference

12 December 2020

From basket weave to barrier. Unifying concepts for the pathogenesis of the disorders of cornification

1 reference

12 December 2020

Programmed expression of cholesterol sulfotransferase and transglutaminase during epidermal differentiation of murine skin development

1 reference

12 December 2020

A clinical and immunological study of Netherton's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of endogenous cathepsin D-like and chymotrypsin-like proteolysis in human epidermal desquamation

1 reference

12 December 2020

Stratum corneum tryptic enzyme in normal epidermis: a missing link in the desquamation process?

1 reference

12 December 2020

Cholesterol 3-sulfate interferes with cornified envelope assembly by diverting transglutaminase 1 activity from the formation of cross-links and esters to the hydrolysis of glutamine

1 reference

12 December 2020

CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase

1 reference

12 December 2020

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

1 reference

12 December 2020

Epidermal sphingomyelins are precursors for selected stratum corneum ceramides

1 reference

12 December 2020

Does the tail wag the dog? Role of the barrier in the pathogenesis of inflammatory dermatoses and therapeutic implications

1 reference

12 December 2020

Autosomal recessive congenital ichthyosis in Sweden and Estonia: clinical, genetic and ultrastructural findings in eighty-three patients

1 reference

12 December 2020

Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)

1 reference

12 December 2020

Severe oily ichthyosis in monozygotic twins mimicking Chanarin-Dorfman syndrome but not associated with a mutation of the CGI58 gene

1 reference

12 December 2020

Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease

1 reference

12 December 2020

Peroxisome proliferator-activated receptor-alpha activation inhibits Langerhans cell function

1 reference

12 December 2020

Extensive pityriasis alba: a histological histochemical and ultrastructural study

1 reference

12 December 2020

The epidermal cholesterol sulfate cycle

1 reference

12 December 2020

Topical cholesterol treatment of recessive X-linked ichthyosis

1 reference

12 December 2020

Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma

1 reference

12 December 2020

Ichthyosis and neutral lipid storage disease

1 reference

12 December 2020

Metabolism of linoleic acid and other essential fatty acids in the epidermis of the rat

1 reference

12 December 2020

Peroxisomal enzyme deficiency in the Conradi-Hunerman form of chondrodysplasia punctata

1 reference

12 December 2020

Retinoic acid and substratum regulate the differentiation of rabbit tracheal epithelial cells into squamous and secretory phenotype. Morphological and biochemical characterization

1 reference

12 December 2020

Increase in cholesterol sulfotransferase activity during in vitro squamous differentiation of rabbit tracheal epithelial cells and its inhibition by retinoic acid

1 reference

12 December 2020

Effects of cholesterol sulfate on lipid metabolism in cultured human keratinocytes and fibroblasts

1 reference

12 December 2020

Human bronchial epithelial cells synthesize cholesterol sulfate during squamous differentiation in vitro

1 reference

12 December 2020

Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: a comparative study with lysosomal enzymes and the mannose 6-phosphate receptor

1 reference

12 December 2020

Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma

1 reference

12 December 2020

Peroxisomal enzyme deficiency in X-linked dominant Conradi-Hünermann syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Lipid composition of cohesive and desquamated corneocytes from mouse ear skin

1 reference

12 December 2020

Stratum corneum lipid liposomes: calcium-induced transformation into lamellar sheets

1 reference

12 December 2020

Cholesterol sulfate uptake and outflux in cultured human keratinocytes

1 reference

12 December 2020

Microwave incubation improves lipolytic enzyme preservation for ultrastructural cytochemistry

1 reference

12 December 2020

Neutral lipid storage disease: a genetic disorder with abnormalities in the regulation of phospholipid metabolism

1 reference

12 December 2020

Skin barrier properties in patients with recessive X-linked ichthyosis

1 reference

12 December 2020

Extracellular processing of phospholipids is required for permeability barrier homeostasis

1 reference

12 December 2020

Phytanic acid oxidation: normal activation and transport yet defective alpha-hydroxylation of phytanic acid in peroxisomes from Refsum disease and rhizomelic chondrodysplasia punctata

1 reference

12 December 2020

X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

1 reference

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"?

1 reference

12 December 2020

Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes

1 reference

12 December 2020

Differential expression of peroxisome proliferator-activated receptor subtypes during the differentiation of human keratinocytes

1 reference

12 December 2020

A new model system for lipid interactions in stratum corneum vesicles: effects of lipid composition, calcium, and pH

1 reference

12 December 2020

The metabolic response to exfoliation

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1194/JLR.R800002-JLR200

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18245815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18245815%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

PubMed publication ID

18245815

2 references