ArticleNature genetics2012
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 2 of them syntheses that pooled it.
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Who cites it
120 citing papers in PubMed, 2 syntheses or guidelines pooled it, 246 citations in OpenAlex.
- Meta-Analysis of Mutations inGenes · 2021Pooled it
- Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases-Review Article.Frontiers in medicine · 2021Pooled it
- Cytological Survey ofVeterinary sciences · 2026Article
- Article
- ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis.Veterinary dermatology · 2026Article
- Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.The Journal of clinical investigation · 2026Article
- A standardized approach to test missenseJID innovations : skin science from molecules to population health · 2026Article
- Identification of Novel Mutation in theClinical case reports · 2026Article
- Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- Specific organelle targeting as a key step in epidermal lipid synthesis.Frontiers in medicine · 2026Article
- Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers.PloS one · 2026Article
- ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.Animal genetics · 2025Article
- Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.Journal of lipid research · 2025Article
- The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases.Acta dermato-venereologica · 2025Article
- The balancing act between lipid droplets and lysosomes for membrane functionality in age-related neurodegeneration and inflammation.Progress in lipid research · 2025Review
- Genomic analyses identify 15 risk loci and revealProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis.Veterinary dermatology · 2025Article
- Metabolic pathways of eicosanoids-derivatives of arachidonic acid and their significance in skin.Cellular & molecular biology letters · 2025Review
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- The beauty of the beast: Suggestions to curb the excesses of dog breeding and restore animal welfare - Invited review.Veterinarni medicina · 2024Review
60 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
24 authors at 12 institutions in 3 countries.
Funding
Abstract
Ichthyoses comprise a heterogeneous group of genodermatoses characterized by abnormal desquamation over the whole body, for which the genetic causes of several human forms remain unknown. We used a spontaneous dog model in the golden retriever breed, which is affected by a lamellar ichthyosis resembling human autosomal recessive congenital ichthyoses (ARCI), to carry out a genome-wide association study. We identified a homozygous insertion-deletion (indel) mutation in PNPLA1 that leads to a premature stop codon in all affected golden retriever dogs. We subsequently found one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families. Further experiments highlighted the importance of PNPLA1 in the formation of the epidermal lipid barrier. This study identifies a new gene involved in human ichthyoses and provides insights into the localization and function of this yet uncharacterized member of the PNPLA protein family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.