ReviewActa dermato-venereologica2020
Genetics of Inherited Ichthyoses and Related Diseases.
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 41 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
41 citing papers in PubMed.
- Second-Tier Whole Exome Sequencing Following Abnormal Newborn Screening: Diagnostic Yield, Secondary Findings, and Carrier Burden in a Taiwanese Neonatal Cohort.Children (Basel, Switzerland) · 2026Article
- Novel Compound Heterozygous Variants inJournal of clinical medicine · 2026Article
- Secukinumab for lamellar ichthyosis in an adolescent: a case report.Translational pediatrics · 2026Article
- Identification of Pathogenic Variants inInternational journal of molecular sciences · 2026Article
- A mixed-methods online survey approach using retrospective self-reporting to characterise congenital ichthyoses across age groups.Orphanet journal of rare diseases · 2026Article
- ST14 syndromic epidermal differentiation disorder: A case report of a homozygous recessive variant with photosensitivity.JAAD case reports · 2026Article
- Characterizing superficial epidermolytic ichthyosis in a patient with KRT2 mutation responsive to ustekinumab.JAAD case reports · 2026Article
- Qualitative testing of the EQ-HWB-9 with a 'blank' EQ-HWB VAS and EQ-5D-5L with skin bolt-ons in a rare genetic skin disease population.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Specific organelle targeting as a key step in epidermal lipid synthesis.Frontiers in medicine · 2026Article
- Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- The role of the skin microbiome in inherited ichthyoses: A systematic review.JAAD international · 2025Review
- Congenital and Neonatal Skin Disorders: Histopathological Diagnosis and Syndromic Associations.Cureus · 2025Review
- The Octadecanoids: Synthesis and Bioactivity of 18-Carbon Oxygenated Fatty Acids in Mammals, Bacteria, and Fungi.Chemical reviews · 2025Review
- Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.Frontiers in immunology · 2025Article
- Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.Orphanet journal of rare diseases · 2024Article
- Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report.JAAD case reports · 2024Article
- A cellular disease model toward gene therapy ofMolecular therapy. Methods & clinical development · 2024Article
- Coordinating energy metabolism and signaling pathways in epithelial self-renewal and differentiation.Biology direct · 2024Review
- 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
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are defined on the basis of clinical and genetic features and are mainly divided into non-syndromic and syndromic ichthyoses. Numerous genes, which encode for corresponding proteins, are involved in the normal differentiation of keratinocytes (cornification) and participate in the formation of a functional epidermal barrier. To date, mutations in more than 50 genes are known to result in various types of ichthyoses. Thanks to modern genetic diagnostic methods based on targeted next generation sequencing (NGS), approximately 80-90% of cases can be resolved at present. Further sequencing methods covering the whole exome (WES) or whole genome (WGS) will obviously elucidate another portion of the remaining unknown ichthyoses in the future.
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