Associated Papers
Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1.
Nohara T et al.
Journal of Dermatological Science, 2022
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
Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.
Li L et al.
Molecular Genetics & Genomic Medicine, 2020
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
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
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
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
Ahmad F et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
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
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