Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
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FOXM1 upregulation is an early event in human squamous cell carcinoma and it is enhanced by nicotine during malignant transformationMutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowthA single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosisPathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismPremature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosisCeramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor {delta} in human keratinocytesExpression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermisThe lipid translocase, ABCA4: seeing is believing.Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytesABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic estersDistinguishing ichthyoses by protein profilingDefects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin IchthyosisA mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasisForkhead Box C1 Regulates Human Primary Keratinocyte Terminal DifferentiationTransglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosisSmokeless tobacco-induced lamellar body abnormalities.Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study.Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosusHarlequin ichthyosis unmasked: a defect of lipid transport.Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice.Ichthyosis in the newborn.CEDNIK syndrome results from loss-of-function mutations in SNAP29.The genetics of human skin disease.Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestryEpidermal barrier formation and recovery in skin disorders.Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis.A novel conserved targeting motif found in ABCA transporters mediates trafficking to early post-Golgi compartments.Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyosesGenome-wide analysis of the ATP-binding cassette (ABC) transporter gene family in sea lamprey and Japanese lamprey.Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration.Principles for the post-GWAS functional characterization of cancer risk lociHarlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis.Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.Diseases of intramembranous lipid transport.Inherited ichthyoses/generalized Mendelian disorders of cornification.Autosomal recessive inheritance: an updated review.Lipidomic strategies to study structural and functional defects of ABC-transporters in cellular lipid trafficking.
P2860
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P2860
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
description
2005 nî lūn-bûn
@nan
2005 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մարտին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
@nl
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@ast
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@en
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@en-gb
type
label
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
@nl
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@ast
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@en
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@en-gb
prefLabel
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
@nl
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@ast
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@en
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
@en-gb
P2093
P2860
P50
P3181
P356
P1476
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
@en
P2093
Aileen E M Taylor
Andrew Ilchyshyn
Bernard V North
Beverly A Dale
Bryan D Young
Cameron T Kennedy
Celia Moss
David Paige
David R Witt
Eli Sprecher
P2860
P304
P3181
P356
10.1086/429844
P407
P577
2005-03-08T00:00:00Z