(Q28511467)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

ATP-binding cassette, sub-family A (ABC1), member 12

25 December 2019

main subject

1 reference

GOA release 2020-03-11

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Ruth Welti

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

10

Mason W Freeman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

Ying Zuo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Giorgis Isaac

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Mary McKee

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Debbie Z Zhuang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Jennifer J Tobin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Janice L Brissette

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Michael L Fitzgerald

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

27 October 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

283

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

36624-36635

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects

25 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

12R-lipoxygenase deficiency disrupts epidermal barrier function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Blimp1 defines a progenitor population that governs cellular input to the sebaceous gland

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

A homolog of Drosophila grainy head is essential for epidermal integrity in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Dedicated epithelial recipient cells determine pigmentation patterns

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Loss of receptor-mediated lipid uptake via scavenger receptor A or CD36 pathways does not ameliorate atherosclerosis in hyperlipidemic mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

ABCA3 mutations associated with pediatric interstitial lung disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

ABCA3 gene mutations in newborns with fatal surfactant deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Sphingolipid activator proteins are required for epidermal permeability barrier formation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Identification of two intermediates during processing of profilaggrin to filaggrin in neonatal mouse epidermis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Lipid composition and acid hydrolase content of lamellar granules of fetal rat epidermis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

Abnormal Lamellar Granules in Harlequin Ichthyosis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

ABCA3 is critical for lamellar body biogenesis in vivo.

2 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807377200

Abca7 null mice retain normal macrophage phosphatidylcholine and cholesterol efflux activity despite alterations in adipose mass and serum cholesterol levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807377200

ATP-binding cassette transporter A1 contains an NH2-terminal signal anchor sequence that translocates the protein's first hydrophilic domain to the exoplasmic space.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807377200

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/10.1074%2FJBC.M807377200

Integrity and barrier function of the epidermis critically depend on glucosylceramide synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807377200

Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807377200

ABCA3 as a Lipid Transporter in Pulmonary Surfactant Biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M807377200

Patterned acquisition of skin barrier function during development.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2605993

The fate of glucosylceramide (glucocerebroside) in genetically impaired (lysosomal beta-glucosidase deficient) Gaucher disease diploid human fibroblasts

27 November 2018

1 reference

12 December 2020

Heterogeneity in Harlequin Ichthyosis, an Inborn Error of Epidermal Keratinization: Variable Morphology and Structural Protein Expression and a Defect in Lamellar Granules

1 reference

12 December 2020

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis

1 reference

12 December 2020

Alteration of the Pulmonary Surfactant System in Full-Term Infants with Hereditary ABCA3 Deficiency

1 reference

12 December 2020

ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol

1 reference

12 December 2020

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M807377200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

25 December 2019

3941629

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3941629

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18957418%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference