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

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

Item
http://www.wikidata.org/entity/Q24646630
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin IchthyosisSelf-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.CEDNIK syndrome results from loss-of-function mutations in SNAP29.Topical hesperidin enhances epidermal function in an aged murine model.Endogenous β-glucocerebrosidase activity in Abca12⁻/⁻epidermis elevates ceramide levels after topical lipid application but does not restore barrier function.Cell-cell connectivity: desmosomes and disease.Harlequin ichthyosis: ABCA12 mutations underlie defective lipid transport, reduced protease regulation and skin-barrier dysfunction.Discovery in genetic skin disease: the impact of high throughput genetic technologiesOrganotypic modeling of human keratinocyte response to peroxisome proliferators.Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis.Ichthyin/NIPAL4 localizes to keratins and desmosomes in epidermis and Ichthyin mutations affect epidermal lipid metabolism.Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.
P2860

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

Item
http://www.wikidata.org/entity/Q24646630
description
2009 nî lūn-bûn
@nan
2009 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մարտին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
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name
Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
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Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
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Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
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type
label
Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
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Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
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Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
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prefLabel
Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
@ast
Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
@en
Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
@nl
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Premature terminal differentia ...... ABCA12 in Harlequin ichthyosis
@en
P2093
P2860
P304
P31
P3181
P356
10.2353/AJPATH.2009.080860
P407
P433
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P577
P5875
P698
P932