Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation Analysis in Ten Cases With PNPLA1-Nonsyndromic Epidermal Differentiation Disorder: Evidence of a Founder Effect.

The Journal of dermatology - 1 Jun 2026

Peng Yunran, Guan Yang, Lv Kunlun, Yang Chao, Chen Quan, Wang Huijun, Lin Zhimiao

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of nonsyndromic epidermal differentiation disorders (nEDD). Variants in PNPLA1, which encodes a transacylase essential for the formation of epidermal lipid barrier, underlie ARCI10. This study aims to unveil the underlying genetic basis in ten Chinese cases diagnosed with ARCI, and to determine the origin of a prevalent variant. Ten...

Topics

Join the communities discussing this publication.

Acyltransferases
East Asian People
Exome Sequencing
Founder Effect
Ichthyosis, Lamellar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 41964248
DOI: 10.1111/1346-8138.70252

Genes

PNPLA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation Analysis in Ten Cases With PNPLA1-Nonsyndromic Epidermal Differentiation Disorder: Evidence of a Founder Effect.PMID 41964248Read ↗

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.Semantic proximity Read ↗

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.Semantic proximity Read ↗

Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report.Semantic proximity Read ↗

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.Semantic proximity Read ↗

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.Semantic proximity Read ↗

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.Semantic proximity Read ↗

Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction.Semantic proximity Read ↗

Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.Semantic proximity Read ↗

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.Semantic proximity Read ↗

Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.Semantic proximity Read ↗

Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the <i><scp>CSTA</scp></i> Gene Encoding Cystatin ASemantic proximity Read ↗

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.