Associated Papers
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.
Xiang R et al.
Acta Dermato-venereologica, 2025
Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype.
Tian W et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2025
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype.
Xie M et al.
Alternative Therapies in Health and Medicine, 2024
Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report.
Li H et al.
Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 2022
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
[Analysis of PNPLA1 gene mutation in a child with ichthyosis].
Li H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.
Guo QH et al.
Journal of Cellular and Molecular Medicine, 2017
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
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
Boyden LM 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
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
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
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
Fachal L et al.
The British Journal of Dermatology, 2014