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PNPLA1 gene

Known as: patatin like phospholipase domain containing 1, PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 1, PNPLA1 
National Institutes of Health

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Phospholipase

Papers overview

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2019
2019
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is… 
2018
2018
Novel PNPLA1 mutations in two Italian siblings with autosomal recessive congenital ichthyosis
Autosomal recessive congenital ichthyoses (ARCI) are a clinically and genetically heterogeneous group of non-syndromic ichthyoses… 
2018
2018
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5
2017
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…
Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous group of rare Mendelian skin disorders… 
2017
2017
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation
DEAR EDITOR, The ichthyoses are rare skin disorders linked by the common finding of scale and concomitant barrier function… 
Review
2016
Review
2016
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family.
2016
2016
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy.
BACKGROUND Ichthyoses represent a genetically and phenotypically heterogeneous syndrome of abnormal epidermal cornification… 
2013
2013
Identification of human patatin-like phospholipase domain-containing protein 1 and a mutant in human cervical cancer HeLa cells
Recently members of mammalian patatin-like phospholipase domain containing (PNPLA) protein family have attracted attention for… 
2009
2009
Genetic Variance in the Adiponutrin Gene Family and Childhood Obesity
Aim The adiponutrin gene family consists of five genes (PNPLA1-5) coding for proteins with both lipolytic and lipogenic… 
2008
2008
The patatin-like lipase family in Gallus gallus
BackgroundIn oviparous species, genes encoding proteins with functions in lipid remodeling, such as specialized lipases, may have… 
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