Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
about
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowthMutations in CERS3 cause autosomal recessive congenital ichthyosis in humansMutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transferMutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.A 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 metabolismCeramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor {delta} in human keratinocytesMammalian P4-ATPases and ABC transporters and their role in phospholipid transportLocalization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytesNo genetic association between ATP binding cassette proteins and Japanese sporadic Alzheimer's diseaseABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic estersDefects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin IchthyosisCloning of ABCA17, a novel rodent sperm-specific ABC (ATP-binding cassette) transporter that regulates intracellular lipid metabolismA mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasisLearning from eponyms: George F. Odland and Odland bodiesNovel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.Transglutaminase-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 ichthyosisClinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study.Harlequin ichthyosis unmasked: a defect of lipid transport.Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration[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.Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis.Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.Genome-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.The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever.A topical Chinese herbal mixture improves epidermal permeability barrier function in normal murine skin.Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.Diseases of intramembranous lipid transport.Lipidomic strategies to study structural and functional defects of ABC-transporters in cellular lipid trafficking.Epidermal sphingolipids: metabolism, function, and roles in skin disorders.Activation of TLR3 in keratinocytes increases expression of genes involved in formation of the epidermis, lipid accumulation, and epidermal organelles.Emerging drugs for ichthyosis.Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
P2860
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P2860
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
description
2003 nî lūn-bûn
@nan
2003 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@ast
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@en
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@en-gb
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@nl
type
label
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@ast
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@en
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@en-gb
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@nl
prefLabel
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@ast
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@en
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@en-gb
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@nl
P2093
P3181
P356
P1476
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
@en
P2093
Bakar Bouadjar
Caroline Lefévre
Claudine Blanchet-Bardon
Florence Jobard
Hakima Lakhdar
Jean-François Prud'homme
Judith Fischer
Mario Foglio
Omar Boughdene-Stambouli
Roland Heilig
P304
P3181
P356
10.1093/HMG/DDG235
P407
P577
2003-09-15T00:00:00Z