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

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

PLoS genetics - 1 Jan 2018

Duverger Olivier, Carlson Jenna C, Karacz Chelsea M, Schwartz Mary E, Cross Michael A, Marazita Mary L, Shaffer John R, Morasso Maria I

Abstract excerpt

Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cells, Cultured

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dental Caries

Share to Dental Enamel

Share to Genome-Wide Association Study

Share to Keratin-6

Share to Keratins

Source

Open in PubMed Open full text

Identifiers

PMID: 29357356
DOI: 10.1371/journal.pgen.1007168
PMCID: PMC5794186

Genes

KRT16
KRT17

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.PMID 29357356Read ↗

Revisiting pachyonychia congenita: a case-cohort study of 815 patients.Semantic proximity Read ↗

Genotype‒Structurotype‒Phenotype Correlations in Patients with Pachyonychia Congenita.Semantic proximity Read ↗

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.Semantic proximity Read ↗

A large mutational study in pachyonychia congenita.Semantic proximity Read ↗

KRT6A Variant Underlies Pachyonychia Congenita: Insights Into Protein Aggregation and PPAR Signaling.Semantic proximity Read ↗

Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.Semantic proximity Read ↗

Clinical and pathological features of pachyonychia congenita.Semantic proximity Read ↗

The molecular genetic analysis of the expanding pachyonychia congenita case collection.Semantic proximity Read ↗

Overcoming functional redundancy to elicit pachyonychia congenita-like nail lesions in transgenic mice.Semantic proximity Read ↗

Identification of clinically useful predictive genetic variants in pachyonychia congenita.Semantic proximity Read ↗

KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.Semantic proximity Read ↗

Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16.Semantic proximity Read ↗

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