SynthesisGenes2021
Meta-Analysis of Mutations in
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
3.4field-weighted citation impact, top 7% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases-Review Article.Frontiers in medicine · 2021Pooled it
- Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders.Experimental dermatology · 2026Article
- Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases.Dermatopathology (Basel, Switzerland) · 2026Article
- ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis.Animal genetics · 2025Article
- Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey.Dermatology practical & conceptual · 2025Article
- Review
- Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis.Frontiers in immunology · 2025Article
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- Identification ofInternational journal of molecular sciences · 2024Article
- 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
- Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.Molecular medicine reports · 2024Article
- Lipoxygenases at the Intersection of Infection and Carcinogenesis.International journal of molecular sciences · 2024Review
- Autosomal recessiveBMJ case reports · 2024Article
- Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.Dermatology (Basel, Switzerland) · 2024Article
- Review
- Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel MutationsMedeniyet medical journal · 2022Article
- Identification of the first congenital ichthyosis case caused by a homozygous deletion in theFrontiers in genetics · 2022Article
- Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling.Acta dermato-venereologica · 2021Article
- Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.Life (Basel, Switzerland) · 2021Article
- Ichthyoses-A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation.Dermatopathology (Basel, Switzerland) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 19 institutions in 12 countries.
Alrun HotzInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0003-2560-3951
Julia KoppInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Emmanuelle BourratDepartment of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, 75010 Paris, France.
Vinzenz OjiDepartment of Dermatology and Venereology, Münster University Medical Center, 48149 Münster, Germany.
Katalin KomlosiInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Kathrin GiehlDepartment of Dermatology and Allergy, University of Munich LMU, 80337 Munich, Germany.
Bakar BouadjarDepartment of Dermatology, CHU of Bab-El-Oued Algiers, Algiers 16008, Algeria.
Anette BygumDepartment of Dermatology, Odense University Hospital, 5000 Odense, Denmark.
Iliana Tantcheva-PoorDepartment of Dermatology, University of Cologne, 50937 Cologne, Germany.
Maritta Hellström PiggDepartment of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Cristina HasDepartment of Dermatology, Medical Center-University of Freiburg, University of Freiburg, 79104 Freiburg, Germany.
Zhou YangInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Alan D IrvineDermatology, Children's Health Ireland and Clinical Medicine, Trinity College Dublin, D12 N512 Dublin, Ireland.
Regina C BetzInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, 53127 Bonn, Germany.ORCID 0000-0001-5024-3623
Giovanna ZambrunoGenodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Gianluca TadiniFondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UOSD Pediatria ad Alta Intensità di Cura, 20122 Milan, Italy.
Kira SüßmuthDepartment of Dermatology and Venereology, Münster University Medical Center, 48149 Münster, Germany.
Robert GruberDepartment of Dermatology, Venereology and Allergy, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Matthias SchmuthDepartment of Dermatology, Venereology and Allergy, Medical University of Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0002-4064-1334
Juliette Mazereeuw-HautierReference Center for Rare Skin Diseases, Dermatology Department, CHU Larrey, Université Paul Sabatier, 31000 Toulouse, France.
Natalie JoncaDepartment of Epidermis Differentiation and Rheumatoid Autoimmunity, UMR 1056 Inserm University Toulouse, Place du Dr Baylac, Hôpital Purpan, 31059 Toulouse, France.
Sophie GuezFondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UOSD Pediatria ad Alta Intensità di Cura, 20122 Milan, Italy.
Michela BrenaFondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UOSD Pediatria ad Alta Intensità di Cura, 20122 Milan, Italy.
Angela Hernandez-MartinDepartment of Dermatology, Hospital Infantil Niño Jesús, 28009 Madrid, Spain.
Peter van den AkkerDepartment of Genetics, University Medical Center Groningen, University of Groningen, 9700RB Groningen, The Netherlands.
Maria C BollingCenter for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, 9700RB Groningen, The Netherlands.
Katariina Hannula-JouppiERN-Skin Center, Department of Dermatology and Allergology, University of Helsinki and Helsinki University Central Hospital, HUS, 00029 Helsinki, Finland.
Andreas D ZimmerInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0002-5595-9388
Svenja AlterInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Anders VahlquistDepartment of Medical Sciences/Dermatology, Uppsala University, SE-751 85 Uppsala, Sweden.
Judith FischerInstitute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.ORCID 0000-0002-8580-8118
University of Freiburg · DEFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITInnsbruck Medical University · ATUniversity Hospital Münster · DEUniversity Medical Center Groningen · NLAssistance Publique – Hôpitaux de Paris · FRBambino Gesù Children's Hospital · ITCentre Hospitalo-Universitaire Bab El Oued · DZHospital Infantil Universitario Niño Jesús · ESInserm · FRKarolinska University Hospital · SELudwig-Maximilians-Universität München · DETrinity College Dublin · IEUniversité Toulouse III - Paul Sabatier · FRUniversity of Bonn · DEUniversity of Cologne · DEUniversity of Helsinki · FIUniversity of Southern Denmark · DKUppsala University · SE
Funding
No grant is acknowledged in the PubMed record.
Abstract
The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI:
Indexed as
MutationAdultArachidonate 12-LipoxygenaseCohort StudiesFemaleHumansIchthyosiform Erythroderma, CongenitalLipoxygenaseMaleALOX12B protein, humanALOXE3 protein, humanArachidonate 12-LipoxygenaseLipoxygenaseALOX12BALOXE3ARCIichthyosis
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Registered trials
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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.