(Q35350057)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism (English)

1 reference

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7 February 2020

1

1 reference

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7 February 2020

Maurice van Steensel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Marina Rodriguez-Martín

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Jennifer Sorrell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Candrice Heath

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Debra Crumrine

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Michel van Geel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Antonio Noda Cabrera

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Peter M Elias

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

language of work or name

English

0 references

publication date

14 July 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

7 February 2020

published in

1 reference

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7 February 2020

volume

131

1 reference

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7 February 2020

issue

11

1 reference

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7 February 2020

page(s)

2242-2248

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

Malformation syndromes caused by disorders of cholesterol synthesis

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

X-chromosome inactivation and skin disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

X-chromosome inactivation: role in skin disease expression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Inborn errors of sterol biosynthesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Inherited disorders of cholesterol biosynthesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Sonic hedgehog signaling is essential for hair development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Cholesterol synthesis is required for cutaneous barrier function in mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Structural Basis for the Barrier Abnormality Following Inhibition of HMG CoA Reductase in Murine Epidermis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

LDL receptors in keratinocytes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

Conradi-Hünermann-Happle syndrome with abnormal lamellar granule contents

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

The lovastatin-treated rodent: a new model of barrier disruption and epidermal hyperplasia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193573

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

26 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Exogenous nonphysiologic vs physiologic lipids. Divergent mechanisms for correction of permeability barrier dysfunction

1 reference

12 December 2020

Essential role for Sonic hedgehog during hair follicle morphogenesis

1 reference

12 December 2020

Donor dominance cures CHILD nevus

1 reference

12 December 2020

Identifiers

DOI

10.1038/JID.2011.189

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

release_njxelml5tncexckxpenhal7z3u

7 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/njxelml5tncexckxpenhal7z3u

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21753784%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

21753784

1 reference