Discover Community Create You

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

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Nature genetics - 1 Mar 2006

Smith Frances J D, Irvine Alan D, Terron-Kwiatkowski Ana, Sandilands Aileen, Campbell Linda E, Zhao Yiwei, Liao Haihui, Evans Alan T, Goudie David R, Lewis-Jones Sue, Arseculeratne Gehan, Munro Colin S, Sergeant Ann, O'Regan Gráinne, Bale Sherri J, Compton John G, DiGiovanna John J, Presland Richard B, Fleckman Philip, McLean W H Irwin

Abstract excerpt

Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans. The most widely cited incidence figure is 1 in 250 based on a survey of 6,051 healthy English schoolchildren. We have identified homozygous or co...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Filaggrin Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Intermediate Filament Proteins

Share to Pedigree

Share to Phosphoproteins

Share to Reference Values

Share to Sequence Deletion

Source

Identifiers

PMID: 16444271
DOI: 10.1038/ng1743

Genes

FLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16444271-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.PMID 16444271Read ↗

[Mutations in the gene encoding filaggrin cause ichthyosis vulgaris].Semantic proximity Read ↗

Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyondSemantic proximity Read ↗

Filaggrin gene variants among Saudi patients with ichthyosis vulgaris.Semantic proximity Read ↗

Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population.Semantic proximity Read ↗

Ichthyosis vulgaris: the filaggrin mutation disease.Semantic proximity Read ↗

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.Semantic proximity Read ↗

Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patientsSemantic proximity Read ↗

FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics.Semantic proximity Read ↗

Filaggrin in the frontline: role in skin barrier function and diseaseSemantic proximity Read ↗

[Filaggrin gene mutations are frequent and increase the risk of skin disease].Semantic proximity Read ↗

Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis.Semantic proximity Read ↗

Atopic eczema and the filaggrin story.Semantic proximity Read ↗

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