Zobrazeno 1 - 10
of 1 690
pro vyhledávání: '"Erythrokeratodermia variabilis"'
Autor:
Afzal G; PNS Shifa Hospital, Karachi, Pakistan., Ahmed N; Department of Dermatology, PNS Shifa Hospital, Karachi, Pakistan., Jamal N; Department of Histopathology, PNS Shifa Hospital, Karachi, Pakistan., Zahoor F; Department of Dermatology, PNS Shifa Hospital, Karachi, Pakistan.
Publikováno v:
JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2024 Sep; Vol. 74 (9), pp. 1687-1689.
Autor:
Hotz A; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Fölster-Holst R; Department of Dermatology, Venerology and Allergology, University Medical Center Schleswig-Holstein, 24105 Kiel, Germany., Oji V; European Reference Networks (ERN Skin), 75015 Paris, France.; Department of Dermatology and Venereology, Muenster University Medical Center, 48149 Muenster, Germany., Bourrat E; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, 75015 Paris, France., Frank J; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, 37075 Göttingen, Germany., Marrakchi S; Department of Dermatology, CHU Hedi Chaker, Sfax University, Sfax 3029, Tunisia., Ennouri M; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, Sfax University, Sfax 3029, Tunisia., Wankner L; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Komlosi K; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Alter S; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany., Fischer J; European Reference Networks (ERN Skin), 75015 Paris, France.; Center for Cornification Disorders, Freiburg Center for Rare Diseases, Medical Center, University of Freiburg, 79106 Freiburg, Germany.; Institute of Human Genetics, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Publikováno v:
Genes [Genes (Basel)] 2024 Feb 24; Vol. 15 (3). Date of Electronic Publication: 2024 Feb 24.
Autor:
Liu Y; Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China., Mo R; Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China., Chen Z; Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China., Yang Y; Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.
Publikováno v:
The British journal of dermatology [Br J Dermatol] 2024 Feb 16; Vol. 190 (3), pp. 454.
Autor:
Terrinoni A; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy., Sala G; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy., Bruno E; Department of Clinical Sciences and Translational Medicine University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy., Pitolli C; Department of Neuroscience, Section of Human Anatomy, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy., Minieri M; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy., Pieri M; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy., Gambacurta A; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy., Campione E; Department of System Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy., Belardi R; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy., Bernardini S; Department of Experimental Medicine, University of Tor Vergata, Via Montpellier 1, 00133 Rome, Italy.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2023 Sep 11; Vol. 24 (18). Date of Electronic Publication: 2023 Sep 11.
Akademický článek
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Autor:
Zhang X; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China., Xu P; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China.; Department of Dermatology, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai, China., Lu J; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China., Ding Y; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China., Gu J; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China.; Department of Dermatology, Shanghai Tenth People's Hospital, School of Medicine, Tongji University, Shanghai, China., Shi Y; Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.; Institute of Psoriasis, School of Medicine, Tongji University, Shanghai, China.
Publikováno v:
Experimental dermatology [Exp Dermatol] 2022 Apr; Vol. 31 (4), pp. 594-599. Date of Electronic Publication: 2021 Nov 07.
Autor:
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Publikováno v:
Genes, Vol 15, Iss 3, p 288 (2024)
Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins
Externí odkaz:
https://doaj.org/article/32abf182bde7493b8bec5527b0cab407
Autor:
Wei Z; Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China., Mo R; Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China., Yang Y; Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China., Chen Z; Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
Publikováno v:
The Journal of dermatology [J Dermatol] 2024 Jun 03. Date of Electronic Publication: 2024 Jun 03.
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Gap junctions formed by connexins are channels on cytoplasm functioning in ion recycling and homeostasis. Some members of connexin family including connexin 31 are significant components in human skin and cochlea. In clinic, mutations of
Externí odkaz:
https://doaj.org/article/de82176f76b6412aa6b5b81f5f4822a7
Autor:
Imura K; Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan., Ikeya S; Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan., Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan., Tokura Y; Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Publikováno v:
The Journal of dermatology [J Dermatol] 2020 Apr; Vol. 47 (4), pp. e111-e113. Date of Electronic Publication: 2020 Jan 07.