Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. (Q24531488)

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9 January 2020

title

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis (English)

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9 January 2020

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1

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9 January 2020

Muy-Teck Teh

4

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9 January 2020

Charles Mein

6

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Edel O'Toole

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9 January 2020

author name string

Elizabeth E Norgett

2

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9 January 2020

Harriet Unsworth

3

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Thomas Cullup

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Patricia J Dopping-Hepenstal

7

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Beverly A Dale

8

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9 January 2020

Gianluca Tadini

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Philip Fleckman

10

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Karen G Stephens

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Virginia P Sybert

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Susan B Mallory

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Bernard V North

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David R Witt

15

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Eli Sprecher

16

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Aileen E M Taylor

17

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Andrew Ilchyshyn

18

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Cameron T Kennedy

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Helen Goodyear

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Celia Moss

21

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David Paige

22

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9 January 2020

John I Harper

23

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9 January 2020

Bryan D Young

24

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Irene M Leigh

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Robin A J Eady

26

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language of work or name

English

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publication date

8 March 2005

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American Journal of Human Genetics

9 January 2020

published in

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9 January 2020

volume

76

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9 January 2020

page(s)

794-803

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9 January 2020

issue

5

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

9 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199369

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

24 March 2017

1 reference

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Consed: a graphical tool for sequence finishing

24 March 2017

1 reference

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Base-calling of automated sequencer traces using phred. II. Error probabilities

24 March 2017

1 reference

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Base-calling of automated sequencer traces using phred. I. Accuracy assessment

24 March 2017

1 reference

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

24 March 2017

1 reference

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Mutations of keratinocyte transglutaminase in lamellar ichthyosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199369

ATP-binding cassette (ABC) transporters in human metabolism and diseases

24 March 2017

1 reference

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Parametric and nonparametric linkage analysis: a unified multipoint approach

24 March 2017

1 reference

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

24 March 2017

1 reference

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

27 September 2017

1 reference

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ABCA3 gene mutations in newborns with fatal surfactant deficiency

27 September 2017

1 reference

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

27 September 2017

1 reference

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Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

27 September 2017

1 reference

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

27 September 2017

1 reference

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Harlequin Ichthyosis With Epidermal Lipid Abnormality

27 September 2017

1 reference

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The calcium-activated neutral protease calpain I is present in normal foetal skin and is decreased in neonatal harlequin ichthyosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199369

Transglutaminase 1 expression in a patient with features of harlequin ichthyosis: case report

30 May 2018

1 reference

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Three-dimensional sonographic findings in congenital (harlequin) ichthyosis.

30 May 2018

1 reference

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In human epidermis, beta-defensin 2 is packaged in lamellar bodies

29 November 2018

1 reference

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

29 November 2018

1 reference

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Regional difference in expression of characteristic abnormality of harlequin ichthyosis in affected fetuses.

29 November 2018

1 reference

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Origin of the corneocyte lipid envelope (CLE): observations in harlequin ichthyosis and cultured human keratinocytes

29 November 2018

1 reference

12 December 2020

Three unusual siblings with Harlequin icthyosis in an Indian family

1 reference

12 December 2020

Prenatal diagnosis of harlequin ichthyosis

1 reference

12 December 2020

[Harlequin fetus--a case report]

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

Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; Report of two cases

1 reference

12 December 2020

Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells

1 reference

12 December 2020

Harlequin ichthyosis — A case report

1 reference

12 December 2020

A longitudinal study of a harlequin infant presenting clinically as non-bullous congenital ichthyosiform erythroderma

1 reference

12 December 2020

Cornified cell envelope proteins and keratins are normally distributed in harlequin ichthyosis

1 reference

12 December 2020

Collodion baby: ultrastructure and distribution of cornified cell envelope proteins and keratins

1 reference

12 December 2020

Protein phosphatase activity in human keratinocytes cultured from normal epidermis and epidermis from patients with harlequin ichthyosis

1 reference

12 December 2020

Harlequin fetus: a case report

1 reference

12 December 2020

A submicroscopic granular component in human epidermis

1 reference

12 December 2020

Identifiers

DOI

10.1086/429844

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756637%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

9 January 2020

3941615

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15756637%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference