(Q28585586)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

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

14 January 2020

main subject

1 reference

GOA release 2020-03-11

author

Peter J Meikle

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Sarah Ellis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Carolyn A de Graaf

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Benjamin T. Kile

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

author name string

Ian Smyth

1

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Nigora Mukhamedova

4

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Keith Satterley

7

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Douglas F Hacking

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Adrienne A Hilton

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Janelle E Collinge

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Melanie Bahlo

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Dmitri Sviridov

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

Douglas J Hilton

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

publication date

19 September 2008

2 references

31 January 2017

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14 January 2020

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

volume

4

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

issue

9

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

page(s)

e1000192

2 references

31 January 2017

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Creative Commons Attribution 4.0 International

14 January 2020

copyright license

start time

19 September 2008

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

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

17 March 2017

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

17 March 2017

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PPAR and LXR activators regulate ABCA12 expression in human keratinocytes

17 March 2017

1 reference

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Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis

17 March 2017

1 reference

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ABCA12 is the major harlequin ichthyosis gene

17 March 2017

1 reference

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

17 March 2017

1 reference

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

17 March 2017

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

17 March 2017

1 reference

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

17 March 2017

1 reference

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Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene

17 March 2017

1 reference

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

17 March 2017

1 reference

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

17 March 2017

1 reference

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

17 March 2017

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17 March 2017

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29 September 2017

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Pathomechanisms of harlequin ichthyosis and ABCA transporters in human diseases

29 September 2017

1 reference

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Lipid efflux by the ATP-binding cassette transporters ABCA1 and ABCG1.

29 September 2017

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The gene family of ABC transporters--novel mutations, new phenotypes

29 September 2017

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29 September 2017

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Visualization of the lipid barrier and measurement of lipid pathlength in human stratum corneum

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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3 June 2018

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3 June 2018

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3 June 2018

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3 June 2018

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Successful treatment of harlequin ichthyosis with acitretin

3 June 2018

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https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000192

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21 January 2018

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Localization of ceramide and glucosylceramide in human epidermis by immunogold electron microscopy.

21 January 2018

1 reference

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21 January 2018

1 reference

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21 January 2018

1 reference

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

21 January 2018

1 reference

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Permeability barrier disruption coordinately regulates mRNA levels for key enzymes of cholesterol, fatty acid, and ceramide synthesis in the epidermis

21 January 2018

1 reference

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Characterization of oligomeric human ATP binding cassette transporter A1. Potential implications for determining the structure of nascent high density lipoprotein particles

21 January 2018

1 reference

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21 January 2018

1 reference

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Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.

21 January 2018

1 reference

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21 January 2018

1 reference

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Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity

27 November 2018

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

Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore

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12 December 2020

Harlequin ichthyosis: an ultrastructural study

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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

Analysis of the cornified cell envelope in lamellar ichthyosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Electron microscopic studies of harlequin fetuses

1 reference

12 December 2020

Efflux of cellular cholesterol and phospholipid to apolipoprotein A-I mutants

1 reference

12 December 2020

Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules

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12 December 2020

Covalently bound omega-hydroxyacylsphingosine in the stratum corneum

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1000192

Identifiers

DOI

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18802465%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

2 references