Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
about
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowthIntegrative annotation of variants from 1092 humans: application to cancer genomicsPathogenesis 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 epidermisMammalian P4-ATPases and ABC transporters and their role in phospholipid transportGene therapy for skin diseasesSingle-neuron and genetic correlates of autistic behavior in macaque.The role of epidermal sphingolipids in dermatologic diseasesLocalization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytesKeratinocyte-specific expression of fatty acid transport protein 4 rescues the wrinkle-free phenotype in Slc27a4/Fatp4 mutant miceABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic estersTranscriptome-based identification of ABC transporters in the western tarnished plant bug Lygus hesperusDefects 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 ichthyosisHarlequin 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.The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degenerationRegulation of ABCG1 expression in human keratinocytes and murine epidermis.Metabolism of very long-chain Fatty acids: genes and pathophysiology.[The ichthyoses. Pathophysiological models of epidermal differentiation].Epidermal 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.ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells.ABCA8 stimulates sphingomyelin production in oligodendrocytes.Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis.A burst of ABC genes in the genome of the polyphagous spider mite Tetranychus urticae.Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle.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.Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family.A-Subclass ATP-Binding Cassette Proteins in Brain Lipid Homeostasis and Neurodegeneration.EGFR regulation of epidermal barrier function.Diseases of intramembranous lipid transport.
P2860
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P2860
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
description
2005 nî lūn-bûn
@nan
2005 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հուլիսին 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 lipid transporter ...... ry by corrective gene transfer
@ast
Mutations in lipid transporter ...... ry by corrective gene transfer
@en
Mutations in lipid transporter ...... ry by corrective gene transfer
@en-gb
Mutations in lipid transporter ...... ry by corrective gene transfer
@nl
type
label
Mutations in lipid transporter ...... ry by corrective gene transfer
@ast
Mutations in lipid transporter ...... ry by corrective gene transfer
@en
Mutations in lipid transporter ...... ry by corrective gene transfer
@en-gb
Mutations in lipid transporter ...... ry by corrective gene transfer
@nl
prefLabel
Mutations in lipid transporter ...... ry by corrective gene transfer
@ast
Mutations in lipid transporter ...... ry by corrective gene transfer
@en
Mutations in lipid transporter ...... ry by corrective gene transfer
@en-gb
Mutations in lipid transporter ...... ry by corrective gene transfer
@nl
P2093
P2860
P3181
P356
P1476
Mutations in lipid transporter ...... ry by corrective gene transfer
@en
P2093
Daisuke Sawamura
Hiroshi Shimizu
James R McMillan
Kaori Sakai
Kentaro Matsuoka
Masashi Akiyama
Nobuko Tabata
Rikako Sasaki
P2860
P304
P3181
P356
10.1172/JCI24834
P407
P577
2005-07-01T00:00:00Z