ArticleProceedings of the National Academy of Sciences of the United States of America2025
A recurrent de novo damaging variant in
Xingyuan Jiang, Ryland D Mortlock, Nathalie Pironon, Jing Zhou, Ronghua Hu, William Liu, Agustina Acosta, Tor A Shwayder, Alain Hovnanian, Richard P Lifton and 1 more
Abstract read
In one paragraphArticle in Proceedings of the National Academy of Sciences of the United States of America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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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.
2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
11 authors.
Xingyuan Jiang *Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510.
Ryland D Mortlock *Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0001-9666-4394 Nathalie PirononINSERM Unité Mixte de Recherche 1163, Laboratory of Genetic Skin Diseases, Imagine Institute, University of Paris, Paris, France; Université Paris Cité, Paris F-75015, France.ORCID 0000-0003-2070-7604 Jing ZhouDepartment of Dermatology, Yale University School of Medicine, New Haven, CT 06510.
Ronghua HuDepartment of Dermatology, Yale University School of Medicine, New Haven, CT 06510.
William LiuDepartment of Dermatology, Yale University School of Medicine, New Haven, CT 06510.
Agustina AcostaDepartment of Dermatology, Pereira Rossell Hospital, Montevideo 11600, Uruguay.
Tor A ShwayderDepartment of Dermatology, Henry Ford Hospital, Detroit, MI 48202.
Alain HovnanianINSERM Unité Mixte de Recherche 1163, Laboratory of Genetic Skin Diseases, Imagine Institute, University of Paris, Paris, France; Université Paris Cité, Paris F-75015, France.
Richard P LiftonLaboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065.ORCID 0000-0002-5745-5984 Keith A ChoateDepartment of Dermatology, Yale University School of Medicine, New Haven, CT 06510.
Funding
Medical Scientist Training ProgramT32GM136651 · NIGMS · YALE UNIVERSITY · PI BARBARA I KAZMIERCZAK · 2020 to 2026
$16.5MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MGenetics and Pathobiology of Disorders of KeratinizationR01AR068392 · NIAMS · YALE UNIVERSITY · PI KEITH A CHOATE · 2015 to 2026
$5.7MHHS | NIH | National Human Genome Research Institute (NHGRI) 5U54HG006504HHS | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) R01AR068392HHS | NIH | National Institute of General Medical Sciences (NIGMS) T32GM136651NHGRI NIH HHS U54 HG006504NIAMS NIH HHS R01 AR068392NIGMS NIH HHS T32 GM136651
6 · The paper itselfAbstract
Genetic investigation in Mendelian skin disorders featuring generalized or localized skin scaling and redness, known as the ichthyoses, has revealed novel pathways relevant to epidermal integrity, barrier function, and desquamation. Here, we show that a recurrent de novo missense variant in
Indexed as
Membrane GlycoproteinsErbB ReceptorsFemaleHumansMaleMutation, MissensePedigreeSignal TransductionEMP2 protein, humanErbB ReceptorsMembrane Glycoproteinsexome sequencinggenomicshuman geneticsichthyosisskin disease
Identifiers
PMID40758889
PMCPMC12358830
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