Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
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Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humansDioxygenase activity of epidermal lipoxygenase-3 unveiled: typical and atypical features of its catalytic activity with natural and synthetic polyunsaturated fatty acidsLipoxygenases mediate the effect of essential fatty acid in skin barrier formation: a proposed role in releasing omega-hydroxyceramide for construction of the corneocyte lipid envelopeHuman and mouse eLOX3 have distinct substrate specificities: implications for their linkage with lipoxygenases in skinThe lipoxygenase gene ALOXE3 implicated in skin differentiation encodes a hydroperoxide isomeraseMutations 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 metabolismThe role of lipoxygenases in pathophysiology; new insights and future perspectivesEicosanoids and Keratinocytes in Wound HealingThe importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrierEpidermis-type lipoxygenase 3 regulates adipocyte differentiation and peroxisome proliferator-activated receptor gamma activity12R-lipoxygenase deficiency disrupts epidermal barrier functionKlf4 and corticosteroids activate an overlapping set of transcriptional targets to accelerate in utero epidermal barrier acquisitionNovel 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-1Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.p63 directly induces expression of Alox12, a regulator of epidermal barrier formation.Harlequin ichthyosis unmasked: a defect of lipid transport.Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion.Discovery of potent and selective inhibitors of human platelet-type 12- lipoxygenase.A novel mutation in the transglutaminase-1 gene in an autosomal recessive congenital ichthyosis patient.Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.[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.The hepoxilin connection in the epidermis.Genetic and pharmacological evidence that a retinoic acid cannot be the RXR-activating ligand in mouse epidermis keratinocytes.Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis.Thematic Review Series: Proteomics. An integrated omics analysis of eicosanoid biology.Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.The role of fatty aldehyde dehydrogenase in epidermal structure and function.The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis.Cloning, expression, purification, crystallization and preliminary X-ray diffraction studies of a 12R-LOX-chaperone complex.Targeted knock-down of a structurally atypical zebrafish 12S-lipoxygenase leads to severe impairment of embryonic developmentAutosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency.The role of group IIF-secreted phospholipase A2 in epidermal homeostasis and hyperplasiaHomozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier DysfunctionStructural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function.
P2860
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P2860
Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
description
2002 nî lūn-bûn
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2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
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name
Lipoxygenase-3 (ALOXE3) and 12 ...... linked to chromosome 17p13.1.
@ast
Lipoxygenase-3 (ALOXE3) and 12 ...... linked to chromosome 17p13.1.
@en
Lipoxygenase-3
@nl
type
label
Lipoxygenase-3 (ALOXE3) and 12 ...... linked to chromosome 17p13.1.
@ast
Lipoxygenase-3 (ALOXE3) and 12 ...... linked to chromosome 17p13.1.
@en
Lipoxygenase-3
@nl
prefLabel
Lipoxygenase-3 (ALOXE3) and 12 ...... linked to chromosome 17p13.1.
@ast
Lipoxygenase-3 (ALOXE3) and 12 ...... linked to chromosome 17p13.1.
@en
Lipoxygenase-3
@nl
P2093
P356
P1476
Lipoxygenase-3 (ALOXE3) and 12 ...... linked to chromosome 17p13.1.
@en
P2093
Aysen Karaduman
Caroline Lefèvre
Claudine Blanchet-Bardon
Florence Jobard
Jean-François Prud'homme
Judith Fischer
Meral Ozgüc
Serap Emre
P304
P356
10.1093/HMG/11.1.107
P577
2002-01-01T00:00:00Z