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Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.
O'Toole, Edel A; Kelsell, David P; Caterina, Michael J; de Brito, Marianne; Hansen, David; Hickerson, Robyn P; Hovnanian, Alain; Kaspar, Roger; Lane, E Birgitte; Paller, Amy S; Schwartz, Janice; Shroot, Braham; Teng, Joyce; Titeux, Matthias; Coulombe, Pierre A; Sprecher, Eli.
Afiliação
  • O'Toole EA; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom.
  • Kelsell DP; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Caterina MJ; Department of Neurosurgery, Neurosurgery Pain Research Institute, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; Department of Biological Chemistry, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins School of Medi
  • de Brito M; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
  • Hansen D; Department of Dermatology, School of Medicine, University of Utah, Salt Lake City, Utah, USA.
  • Hickerson RP; Division of Biological Chemistry and Drug Discovery, University of Dundee, Dundee, United Kingdom.
  • Hovnanian A; INSERM UMR 1163, Laboratory of genetic skin diseases, Institut Imagine, Université Paris Cité, Paris, France; Department of Genomic Medicine of Rare Diseases, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Kaspar R; Ayni Therapeutics, Santa Cruz, California, USA.
  • Lane EB; A∗STAR Skin Research Laboratories, Skin Research Institute of Singapore, Singapore, Singapore.
  • Paller AS; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
  • Schwartz J; Pachyonychia Congenita Project, Salt Lake City, Utah, USA.
  • Shroot B; Palvella Therapeutics, Wayne, Pennsylvania, USA.
  • Teng J; Pediatric Dermatology, Stanford University School of Medicine, Stanford, California, USA.
  • Titeux M; INSERM UMR 1163, Laboratory of genetic skin diseases, Institut Imagine, Université Paris Cité, Paris, France.
  • Coulombe PA; Department of Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Sprecher E; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, School of Medicine, Tel-Aviv University, Tel Aviv, Israel. Electronic address: elisp@tlvmc.gov.il.
J Invest Dermatol ; 144(4): 748-754, 2024 Apr.
Article em En | MEDLINE | ID: mdl-38099888
ABSTRACT
Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ceratodermia Palmar e Plantar / Paquioníquia Congênita Idioma: En Ano de publicação: 2024 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ceratodermia Palmar e Plantar / Paquioníquia Congênita Idioma: En Ano de publicação: 2024 Tipo de documento: Article