(Q35729216)

English

Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death

scientific article published on 5 January 2007

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17208947%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17208947%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

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6

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23 December 2019

author name string

Vidyullatha Vasireddy

1

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23 December 2019

Yoshikazu Uchida

2

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23 December 2019

Norman Salem

3

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23 December 2019

Soo Yeon Kim

4

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23 December 2019

Md Nawajesh Ali Mandal

5

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23 December 2019

Ravi Bodepudi

7

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23 December 2019

Nathan L Alderson

8

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23 December 2019

Johnie C Brown

9

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23 December 2019

Hiroko Hama

10

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23 December 2019

Andrzej Dlugosz

11

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23 December 2019

Peter M Elias

12

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23 December 2019

Walter M Holleran

13

1 reference

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23 December 2019

Radha Ayyagari

14

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23 December 2019

publication date

5 January 2007

1 reference

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23 December 2019

Human Molecular Genetics

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17208947%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

16

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Europe PubMed Central

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23 December 2019

5

1 reference

Europe PubMed Central

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23 December 2019

471-482

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17208947%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Identification of complex mixtures of sphingolipids in the stratum corneum by reversed-phase high-performance liquid chromatography and atmospheric pressure photospray ionization mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Epidermal sphingolipids: metabolism, function, and roles in skin disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Lipopenia and skin barrier abnormalities in DGAT2-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Role for ELOVL3 and fatty acid chain length in development of hair and skin function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

A RAPID METHOD OF TOTAL LIPID EXTRACTION AND PURIFICATION

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

A simple method for the isolation and purification of total lipides from animal tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Epoxyeicosatrienoic acids activate transglutaminases in situ and induce cornification of epidermal keratinocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Epithelial barrier function: assembly and structural features of the cornified cell envelope

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Getting under the skin of epidermal morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Role of a new mammalian gene family in the biosynthesis of very long chain fatty acids and sphingolipids

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Omega-hydroxyceramides are required for corneocyte lipid envelope (CLE) formation and normal epidermal permeability barrier function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Sphingolipid activator proteins are required for epidermal permeability barrier formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Hypothyroidism delays fetal stratum corneum development in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Keratins and the skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Expression patterns of loricrin in various species and tissues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Defects in the barrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Synthesis of very long chain (up to 36 carbon) tetra, penta and hexaenoic fatty acids in retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Separation of lipid classes by solid phase extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

The biochemistry and function of stratum corneum lipids.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Lipids in normal and pathological desquamation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Structural and lipid biochemical correlates of the epidermal permeability barrier

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

The fatty acid chain elongation system of mammalian endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

12 July 2018

Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

A novel method for the measurement of in vitro fatty acid 2-hydroxylase activity by gas chromatography-mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

New acylceramide in native and reconstructed epidermis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

Human epidermal glucosylceramides are major precursors of stratum corneum ceramides

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

Basis for the permeability barrier abnormality in lamellar ichthyosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

Phase behavior of lipid mixtures based on human ceramides: coexistence of crystalline and liquid phases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

Vitamin C stimulates sphingolipid production and markers of barrier formation in submerged human keratinocyte cultures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

Fatty acid composition of human brain phospholipids during normal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

Patterned acquisition of skin barrier function during development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1839956

25 September 2018

DSPP mutation in dentinogenesis imperfecta Shields type II

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL480

21 January 2018

Expression patterns of loricrin in various species and tissues

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL480

21 January 2018

Epidermal sphingomyelins are precursors for selected stratum corneum ceramides

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Determination of sulfa drugs in biological fluids by liquid chromatography/mass spectrometry/mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of essential fatty acid deficiency on epidermal O-acylsphingolipids and transepidermal water loss in young pigs

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Covalently bound lipids of human stratum corneum

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Decreased level of ceramides in stratum corneum of atopic dermatitis: an etiologic factor in atopic dry skin?

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel molecular species of sphingomyelin containing 2-hydroxylated polyenoic very-long-chain fatty acids in mammalian testes and spermatozoa

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Losses of arachidonic acid in rat liver after alcohol inhalation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Role of ceramide 1 in the molecular organization of the stratum corneum lipids

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new 6-hydroxy-4-sphingenine-containing ceramide in human skin

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PREPARATION OF FATTY ACID METHYL ESTERS AND DIMETHYLACETALS FROM LIPIDS WITH BORON FLUORIDE--METHANOL

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New insights into ultrastructure, lipid composition and organization of vernix caseosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/17208947

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDL480

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17208947%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17208947%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17208947%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

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