ArticleAmerican journal of human genetics2016
Somatic Mutations in NEK9 Cause Nevus Comedonicus.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed, 64 citations in OpenAlex.
- The Genetics of Acne.Annals of human genetics · 2025Review
- Genetic Analysis of Epidermal Inclusion Cysts Reveals NEK9 Variants as a Common Driver of Comedogenesis and Cyst Formation.The Journal of investigative dermatology · 2025Article
- Extensive Nevus Comedonicus Treated by Comb Flap Reconstruction, Super Tension-Relieving Sutures, and Vacuum Sealing Drainage: A Case Report.Clinical, cosmetic and investigational dermatology · 2025Article
- Proteomic Ligandability Maps of Spirocycle Acrylamide Stereoprobes Identify Covalent ERCC3 Degraders.Journal of the American Chemical Society · 2024Article
- Illumination of understudied ciliary kinases.Frontiers in molecular biosciences · 2024Review
- Nevus comedonicus: A case report with the histological findings and brief review of the literature.International journal of surgery case reports · 2023Article
- NEK Family Review and Correlations with Patient Survival Outcomes in Various Cancer Types.Cancers · 2023Review
- Nevus Comedonicus Syndrome Associated with Psychiatric Disorder.Diagnostics (Basel, Switzerland) · 2022Article
- Novel variants ofFrontiers in genetics · 2022Article
- Rolled Hairs in Two Cases of Naevus Comedonicus of the Scalp.Acta dermato-venereologica · 2021Article
- Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.Journal of the American Academy of Dermatology · 2021Observational
- Synthesis and structure-activity relationships of targeted protein degraders for the understudied kinase NEK9.Current research in chemical biology · 2021Article
- Bilateral nevus comedonicus of the eyelids: An unusual cause of ptosis and ectropion.American journal of ophthalmology case reports · 2020Article
- Checking NEKs: Overcoming a Bottleneck in Human Diseases.Molecules (Basel, Switzerland) · 2020Review
- Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm.American journal of medical genetics. Part A · 2020Article
- Mutation and expression of ABCA12 in keratosis pilaris and nevus comedonicus.Molecular medicine reports · 2018Article
- In depth analysis of kinase cross screening data to identify chemical starting points for inhibition of the Nek family of kinases.MedChemComm · 2018Review
- Mosaicism in Cutaneous Disorders.Annual review of genetics · 2017Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Acne vulgaris (AV) affects most adolescents, and of those affected, moderate to severe disease occurs in 20%. Comedones, follicular plugs consisting of desquamated keratinocytes and sebum, are central to its pathogenesis. Despite high heritability in first-degree relatives, AV genetic determinants remain incompletely understood. We therefore employed whole-exome sequencing (WES) in nevus comedonicus (NC), a rare disorder that features comedones and inflammatory acne cysts in localized, linear configurations. WES identified somatic NEK9 mutations, each affecting highly conserved residues within its kinase or RCC1 domains, in affected tissue of three out of three NC-affected subjects. All mutations are gain of function, resulting in increased phosphorylation at Thr210, a hallmark of NEK9 kinase activation. We found that comedo formation in NC is marked by loss of follicular differentiation markers, expansion of keratin-15-positive cells from localization within the bulge to the entire sub-bulge follicle and cyst, and ectopic expression of keratin 10, a marker of interfollicular differentiation not present in normal follicles. These findings suggest that NEK9 mutations in NC disrupt normal follicular differentiation and identify NEK9 as a potential regulator of follicular homeostasis.
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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.