ReviewF1000Research2016
Recent advances in understanding ichthyosis pathogenesis.
Review in F1000Research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Psychosocial implications of rare genetic skin diseases affecting appearance on daily life experiences, emotional state, self-perception and quality of life in adults: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Skin Epidermal Progenitor Maintenance by the SRCAP-H2A.Z Axis Downstream to Extracellular Signal-Regulated Kinase and mTOR Signaling.The Journal of investigative dermatology · 2026Article
- A recurrent de novo damaging variant inProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Article
- Challenges in Anesthetic Management in a 25-Year-Old Patient with Ichthyosis.Kansas journal of medicine · 2024Article
- Article
- Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit.BMJ case reports · 2023Article
- Transcriptomic Analysis of the Major Orphan Ichthyosis Subtypes Reveals Shared Immune and Barrier Signatures.The Journal of investigative dermatology · 2022Article
- Scaling skin and failing heart: the cardio-cutaneous connection.Indian journal of thoracic and cardiovascular surgery · 2022Article
- A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.Molecular genetics and genomics : MGG · 2021Article
- A review of quality of life of patients suffering from ichthyosis.Journal of preventive medicine and hygiene · 2020Review
- Ichthyosis molecular fingerprinting shows profound TThe Journal of allergy and clinical immunology · 2019Article
- X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.Journal of medical case reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The ichthyoses, also known as disorders of keratinization (DOK), encompass a heterogeneous group of skin diseases linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the characteristic clinical manifestation of localized and/or generalized scaling. Additional cutaneous findings frequently seen in ichthyoses include generalized xerosis, erythroderma, palmoplantar keratoderma, hypohydrosis, and recurrent infections. In 2009, the Ichthyosis Consensus Conference established a classification consensus for DOK based on pathophysiology, clinical manifestations, and mode of inheritance. This nomenclature system divides DOK into two main groups: nonsyndromic forms, with clinical findings limited to the skin, and syndromic forms, with involvement of additional organ systems. Advances in next-generation sequencing technology have allowed for more rapid and cost-effective genetic analysis, leading to the identification of novel, rare mutations that cause DOK, many of which represent phenotypic expansion. This review focuses on new findings in syndromic and nonsyndromic ichthyoses, with emphasis on novel genetic discoveries that provide insight into disease pathogenesis.
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What OpenQuestion holds
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.