Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.

Autor: 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 Medicine, Baltimore, Maryland, USA., 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.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2024 Apr; Vol. 144 (4), pp. 748-754. Date of Electronic Publication: 2023 Dec 15.

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501 Trial in progress: VALO study evaluating PTX-022 in adults with moderate-to-severe pachyonychia congenita, a rare, chronically debilitating disease that makes walking difficult or impossible

Autor: Teng, J., Shroot, B., Evans, H., Schwartz, J., Connor, J., Valentine, J., Hansen, C.

Publikováno v: In Journal of Investigative Dermatology July 2020 140(7) Supplement:S68-S68

SSCI: Self-Supervised Deep Learning Improves Network Structure for Cancer Driver Gene Identification.

Autor: Xu, Jialuo¹ (AUTHOR) jialuoxu@mail.nwpu.edu.cn, Hao, Jun¹ (AUTHOR) haojun@mail.nwpu.edu.cn, Liao, Xingyu¹ (AUTHOR) liaoxingyu@nwpu.edu.cn, Shang, Xuequn¹ (AUTHOR) shang@nwpu.edu.cn, Li, Xingyi^1,2 (AUTHOR) xingyili@nwpu.edu.cn

Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10351. 12p.

Analysis of alcohol-metabolizing enzymes genetic variants and RAR/RXR expression in patients diagnosed with fetal alcohol syndrome: a case-control study.

Autor: Vieiros, Melina^1,2 (AUTHOR), Navarro-Tapia, Elisabet^2,3 (AUTHOR) enavarrot@universidadviu.com, Ramos-Triguero, Anna¹ (AUTHOR), García-Meseguer, Àgueda¹ (AUTHOR), Martínez, Leopoldo^2,4 (AUTHOR), García-Algar, Óscar^1,5 (AUTHOR), Andreu-Fernández, Vicente^1,6 (AUTHOR) vandreu@universidadviu.com

Publikováno v: BMC Genomics. 6/17/2024, Vol. 25 Issue 1, p1-16. 16p.