Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
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SLC27 fatty acid transport proteinsA single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosisEndothelial fatty acid transport: role of vascular endothelial growth factor BFatty acid transporters in skin development, function and diseaseThe importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrierVery long-chain acyl-CoA synthetase 3: overexpression and growth dependence in lung cancerAcyl-coenzyme A synthetases in metabolic controlFATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.Care of the newborn with ichthyosis.Epidermal hyperproliferation in mice lacking fatty acid transport protein 4 (FATP4) involves ectopic EGF receptor and STAT3 signalingThe expression and function of fatty acid transport protein-2 and -4 in the murine placenta.Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolismA spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis[The ichthyoses. Pathophysiological models of epidermal differentiation].Fatty acid transport protein 4 (FATP4) prevents light-induced degeneration of cone and rod photoreceptors by inhibiting RPE65 isomerase.Hair follicular expression and function of group X secreted phospholipase A2 in mouse skin.A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis.Fatty acid transport protein 1 can compensate for fatty acid transport protein 4 in the developing mouse epidermis.Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.Adipocyte-specific inactivation of Acyl-CoA synthetase fatty acid transport protein 4 (Fatp4) in mice causes adipose hypertrophy and alterations in metabolism of complex lipids under high fat diet.Fatty acid transport proteins, implications in physiology and diseaseSkin barrier disruption: a requirement for allergen sensitization?A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis.EGFR regulation of epidermal barrier function.Peroxisomal acyl-CoA synthetasesIchthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia.Role of fatty acid transport protein 4 in oleic acid-induced glucagon-like peptide-1 secretion from murine intestinal L cells.Ichthyosis prematurity syndrome caused by a novel missense mutation in FATP4 gene-a case report from India.Inherited ichthyoses/generalized Mendelian disorders of cornification.Requirement of fatty acid transport protein 4 for development, maturation, and function of sebaceous glands in a mouse model of ichthyosis prematurity syndrome.Identification of novel FATP4 mutations in a Japanese patient with ichthyosis prematurity syndromeAbnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.Role of fatty acid transporters in epidermis: Implications for health and diseaseThe stratum corneum: the rampart of the mammalian body.Epidermal barriersIchthyosis prematurity syndrome: a case report and review of known mutations.Carnitine transport and fatty acid oxidation.Drosophila fatty acid transport protein regulates rhodopsin-1 metabolism and is required for photoreceptor neuron survival.Linear ion-trap MSn with high-resolution MS reveals structural diversity of 1-O-acylceramide family in mouse epidermis.Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.
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Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.
description
article científic
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article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 23 July 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in the fatty acid tr ...... hthyosis prematurity syndrome.
@en
Mutations in the fatty acid tr ...... hthyosis prematurity syndrome.
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type
label
Mutations in the fatty acid tr ...... hthyosis prematurity syndrome.
@en
Mutations in the fatty acid tr ...... hthyosis prematurity syndrome.
@nl
prefLabel
Mutations in the fatty acid tr ...... hthyosis prematurity syndrome.
@en
Mutations in the fatty acid tr ...... hthyosis prematurity syndrome.
@nl
P2093
P2860
P50
P1476
Mutations in the fatty acid tr ...... hthyosis prematurity syndrome.
@en
P2093
Anders Vahlquist
Bakar Bouadjar
Joakim Klar
Judith Fischer
Niklas Dahl
Robert Zimmerman
P2860
P304
P356
10.1016/J.AJHG.2009.06.021
P407
P577
2009-07-23T00:00:00Z