ReviewActa dermato-venereologica2020
Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
Review in Acta dermato-venereologica, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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.
The trial behind it
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
14 citing papers in PubMed, 32 citations in OpenAlex.
- Identification of Pathogenic Variants inInternational journal of molecular sciences · 2026Article
- Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome.Molecular genetics and metabolism reports · 2025Article
- Article
- ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.Animal genetics · 2025Article
- Genetic testing and new variants in diagnosis of congenital ichthyoses.Molecular genetics & genomic medicine · 2024Article
- Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.Molecular medicine reports · 2024Article
- Article
- Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).International journal of molecular sciences · 2023Article
- Next-generation sequencing in dermatology.Frontiers in medicine · 2023Review
- Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel MutationsMedeniyet medical journal · 2022Article
- ABHD5 frameshift deletion in Golden Retrievers with ichthyosis.G3 (Bethesda, Md.) · 2022Article
- Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity.Clinical chemistry · 2021Article
- Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.Diagnostics (Basel, Switzerland) · 2020Article
- Ichthyosis: A Road Model for Skin Research.Acta dermato-venereologica · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifestations are limited to the cutaneous structures while the syndromic ones are associated with a spectrum of extracutaneous manifestations. The inheritance in different families can be autosomal dominant, autosomal recessive or either X-linked dominant or recessive. Currently at least 67 distinct genes have been associated with different forms of ichthyosis. These genes can be grouped on the basis of their physiological involvement, including genes encoding structural components of epidermis, those involved in epidermal lipid metabolism, or those critical for cell-cell adhesion, and keratinocyte differentiation. This overview highlights some of the recent progress made in understanding the molecular genetics of keratinization disorders, and presents selected, recently characterized cases as representative of different forms of heritable ichthyosis.
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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.