Associated Papers
PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.
Zeng F et al.
Metabolites, 2022
Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance.
Ahmad F et al.
Molecular Syndromology, 2021
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.
Esperón-Moldes U et al.
Acta Dermato-venereologica, 2019
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Zimmer AD et al.
The British Journal of Dermatology, 2017
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.
Pichery M et al.
Human Molecular Genetics, 2017
Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
Bastaki F et al.
International Journal of Dermatology, 2017
PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide.
Ohno Y et al.
Nature Communications, 2017
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Vahidnezhad H et al.
The Journal of Investigative Dermatology, 2017
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.
Grond S et al.
The Journal of Investigative Dermatology, 2017
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis.
Dökmeci-Emre S et al.
The Turkish Journal of Pediatrics, 2017
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
Lee E et al.
Journal of Dermatological Science, 2016
[Spontaneous models of human diseases in dogs: ichthyoses as an example].
André C et al.
Bulletin De L'academie Nationale De Medecine, 2013
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