Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
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Recent advances in understanding ichthyosis pathogenesisThe role of lipoxygenases in pathophysiology; new insights and future perspectivesMammalian lipoxygenases and their biological relevanceThe importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrierDistinguishing ichthyoses by protein profilingLipoxygenase pathways in Homo neanderthalensis: functional comparison with Homo sapiens isoformsNIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis.[The ichthyoses. Pathophysiological models of epidermal differentiation].Homozygous 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 DysfunctionTriallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case ReportStructural and biochemical changes underlying a keratoderma-like phenotype in mice lacking suprabasal AP1 transcription factor function.Inherited ichthyoses/generalized Mendelian disorders of cornification.Control of somatic tissue differentiation by the long non-coding RNA TINCR.The Precise Structures and Stereochemistry of Trihydroxy-linoleates Esterified in Human and Porcine Epidermis and Their Significance in Skin Barrier Function: IMPLICATION OF AN EPOXIDE HYDROLASE IN THE TRANSFORMATIONS OF LINOLEATE.Role of fatty acid transporters in epidermis: Implications for health and diseaseManagement of ichthyosis and related conditions gene-based diagnosis and emerging gene-based therapy.The etiopathogenesis of atopic dermatitis: barrier disruption, immunological derangement, and pruritus.Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.Catalytic activities of mammalian epoxide hydrolases with cis and trans fatty acid epoxides relevant to skin barrier function.Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effectsKongenitale ichthyosiforme Erythrodermie
P2860
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P2860
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Molecular analysis of 250 pati ...... elic heterogeneity in ALOX12B.
@en
Molecular analysis of 250 pati ...... elic heterogeneity in ALOX12B.
@nl
type
label
Molecular analysis of 250 pati ...... elic heterogeneity in ALOX12B.
@en
Molecular analysis of 250 pati ...... elic heterogeneity in ALOX12B.
@nl
prefLabel
Molecular analysis of 250 pati ...... elic heterogeneity in ALOX12B.
@en
Molecular analysis of 250 pati ...... elic heterogeneity in ALOX12B.
@nl
P2093
P50
P356
P1476
Molecular analysis of 250 pati ...... lelic heterogeneity in ALOX12B
@en
P2093
Avikam Harel
Eli Sprecher
Hans C Hennies
Heiko Traupe
Janine Kurtenbach
Jenny Lugassy
Josef Smolle
Marc Nätebus
Marie-Luise Preil
Peter Krieg
P2888
P304
P356
10.1038/JID.2008.409
P407
P577
2009-01-08T00:00:00Z
P5875
P6179
1019511351