Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction (Q38032194)

27 August 2017

Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction (English)

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27 August 2017

Claire A Scott

1

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27 August 2017

Shefali Rajpopat

series ordinal

2

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27 August 2017

Wei-Li Di

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3

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27 August 2017

language of work or name

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4 August 2012

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27 August 2017

Cell and Tissue Research

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27 August 2017

351

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27 August 2017

2

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27 August 2017

281-288

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https://scigraph.springernature.com/pub.10.1007/s00441-012-1474-9

27 August 2017

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The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis

21 January 2018

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

21 January 2018

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Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles

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

21 January 2018

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Keratinocyte production of cathelicidin provides direct activity against bacterial skin pathogens

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Oral retinoid therapy for dermatologic conditions in children and adolescents

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The cornified envelope: a model of cell death in the skin

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Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.

21 January 2018

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Degradation of corneodesmosome proteins by two serine proteases of the kallikrein family, SCTE/KLK5/hK5 and SCCE/KLK7/hK7

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Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts

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Cathepsin D is involved in the regulation of transglutaminase 1 and epidermal differentiation

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Stratum corneum defensive functions: an integrated view

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

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Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders

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Involvement of corneodesmosome degradation and lamellar granule transportation in the desquamation process

21 January 2018

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Epidermal lamellar granules transport different cargoes as distinct aggregates

21 January 2018

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LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum

21 January 2018

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

21 January 2018

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

21 January 2018

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Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis

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Abnormal Lamellar Granules in Harlequin Ichthyosis

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ABCA12 dysfunction causes a disorder in glucosylceramide accumulation during keratinocyte differentiation.

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Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia

21 January 2018

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

21 January 2018

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Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis

21 January 2018

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Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism

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

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ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma

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

21 January 2018

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ABCA12 is the major harlequin ichthyosis gene

21 January 2018

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Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

21 January 2018

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Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis

21 January 2018

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SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa

21 January 2018

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Concise review: hitting the right spot with mesenchymal stromal cells

21 January 2018

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Bone marrow transplantation for recessive dystrophic epidermolysis bullosa

21 January 2018

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EARLY MENTION OF A HARLEQUIN FETUS IN AMERICA

21 January 2018

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Stratum corneum thiol protease (SCTP): a novel cysteine protease of late epidermal differentiation

21 January 2018

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Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

21 January 2018

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Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.

21 January 2018

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

21 January 2018

1 reference

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10.1007/S00441-012-1474-9

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

27 August 2017

1013808349

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Fatcat ID

release_7qc2k7cqqnaflbfdmhqqd3ymlu

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Fatcat

https://api.fatcat.wiki/v0/release/7qc2k7cqqnaflbfdmhqqd3ymlu

mapped directly with Wikidata item

24 November 2022

based on heuristic

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