(Q42761501)

English

Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders

scientific article published on April 2011

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scholarly article

1 reference

Europe PubMed Central

6 November 2017

1 reference

Europe PubMed Central

Pathogenesis of the cutaneous phenotype in inherited disorders of cholesterol metabolism: Therapeutic implications for topical treatment of these disorders (English)

1 reference

Europe PubMed Central

6 November 2017

1 reference

based on heuristic

inferred from title

3

1 reference

Europe PubMed Central

6 November 2017

author name string

Peter M Elias

1

1 reference

Europe PubMed Central

6 November 2017

Debra Crumrine

2

1 reference

Europe PubMed Central

6 November 2017

Marina Rodriguez-Martin

4

1 reference

Europe PubMed Central

6 November 2017

Mary L Williams

5

1 reference

Europe PubMed Central

6 November 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 April 2011

1 reference

Europe PubMed Central

6 November 2017

Dermato-endocrinology

1 reference

Europe PubMed Central

6 November 2017

3

1 reference

Europe PubMed Central

6 November 2017

2

1 reference

Europe PubMed Central

6 November 2017

100-106

1 reference

Europe PubMed Central

6 November 2017

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Malformation syndromes caused by disorders of cholesterol synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Hair growth defects in Insig-deficient mice caused by cholesterol precursor accumulation and reversed by simvastatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Differential effects of cholesterol and desmosterol on the ligand binding function of the hippocampal serotonin(1A) receptor: implications in desmosterolosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Desmosterol can replace cholesterol in sustaining cell proliferation and regulating the SREBP pathway in a sterol-Delta24-reductase-deficient cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

The outer frontier: the importance of lipid metabolism in the skin

1 reference

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27 May 2018

Are side-chain oxidized oxysterols regulators also in vivo?

1 reference

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27 May 2018

Feedback regulation of cholesterol synthesis: sterol-accelerated ubiquitination and degradation of HMG CoA reductase

1 reference

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27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Congenital ichthyosis: an overview of current and emerging therapies

1 reference

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27 May 2018

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

1 reference

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27 May 2018

Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).

1 reference

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27 May 2018

Peroxisome biogenesis disorders

1 reference

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27 May 2018

X-chromosome inactivation: role in skin disease expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Recent insights into the Smith-Lemli-Opitz syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Basis for abnormal desquamation and permeability barrier dysfunction in RXLI

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Human malformation syndromes due to inborn errors of cholesterol synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes

2 references

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27 May 2018

https://api.crossref.org/works/10.4161%2FDERM.3.2.14831

21 January 2018

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Inborn errors of sterol biosynthesis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Inherited disorders of cholesterol biosynthesis

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27 May 2018

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

1 reference

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27 May 2018

Genetic defects in postsqualene cholesterol biosynthesis.

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27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

Clinical phenotype of desmosterolosis

1 reference

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27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3117009

27 May 2018

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

1 reference

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27 May 2018

Human stratum corneum polar lipids and desquamation

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27 May 2018

Lyonization and the lines of Blaschko

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27 May 2018

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

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27 May 2018

CHILD syndrome. Phenotypic dichotomy in eicosanoid metabolism and proliferative rates among cultured dermal fibroblasts

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27 May 2018

The regulation and role of epidermal lipid synthesis.

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27 May 2018

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

1 reference

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27 May 2018

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

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27 May 2018

Retinoids in psoriasis and disorders of keratinization

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27 May 2018

Sonophoresis. II. Examination of the mechanism(s) of ultrasound-enhanced transdermal drug delivery

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27 May 2018

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

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27 May 2018

Steroid-sulfatase deficiency in sex-linked ichthyosis

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27 May 2018

Requirement of DHCR24 for postnatal development of epidermis and hair follicles in mice.

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16 August 2018

Metabolic approaches to enhance transdermal drug delivery. 1. Effect of lipid synthesis inhibitors.

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16 August 2018

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

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16 August 2018

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

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16 August 2018

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

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12 December 2020

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X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695019

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695019

12 December 2020

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inferred from PubMed ID database lookup

Lipid composition of cohesive and desquamated corneocytes from mouse ear skin

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695019

12 December 2020

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inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695019

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695019

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695019

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol sulfate uptake and outflux in cultured human keratinocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21695019

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.4161/DERM.3.2.14831

1 reference

Europe PubMed Central

6 November 2017

1 reference

Europe PubMed Central

6 November 2017

1 reference

Europe PubMed Central

6 November 2017

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