Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis

被引：8

作者：

Diociaiuti, A. ^{[1
]}

Pisaneschi, E. ^{[2
]}

Zambruno, G. ^{[1
]}

Angioni, A. ^{[2
]}

Novelli, A. ^{[2
]}

Boldrini, R. ^{[3
]}

El Hachem, M. ^{[1
]}

机构：

[1] Bambino Gesu Pediat Hosp, IRCCS, Dermatol Unit, Rome, Italy

[2] Bambino Gesu Pediat Hosp, Mol Genet Lab, IRCCS, Rome, Italy

[3] Bambino Gesu Pediat Hosp, Dept Pathol, IRCCS, Rome, Italy

来源：

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2018年 / 32卷 / 03期

关键词：

PHENOTYPIC SPECTRUM; BARRIER; VARIANT; HUMANS; MICE;

D O I：

10.1111/jdv.14618

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：E110 / E112

页数：3

共 11 条

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[4] PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans [J].

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[5] PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides [J].

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JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2017, 137 (02) :394-402

[6] PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis [J].

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[7] Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family [J].

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[8] PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide [J].

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[9] PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier [J].

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[10] Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [J].

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