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Academic Journal

Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.

  • Authors : Bchetnia M; Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Saguenay, QC G7H 2B1, Canada.; Centre Intersectoriel en Santé Durable, Saguenay, QC G7H 2B1, Canada.

Subjects: Epidermolysis Bullosa Simplex*/Epidermolysis Bullosa Simplex*/Epidermolysis Bullosa Simplex*/genetics ; Epidermolysis Bullosa Simplex*/Epidermolysis Bullosa Simplex*/Epidermolysis Bullosa Simplex*/pathology ; Epidermolysis Bullosa Simplex*/Epidermolysis Bullosa Simplex*/Epidermolysis Bullosa Simplex*/metabolism

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 31; Vol. 25 (17). Date of Electronic Publication: 2024 Aug 31.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Structure-Function Analyses of a Keratin Heterotypic Complex Identify Specific Keratin Regions Involved in Intermediate Filament Assembly.

  • Authors : Lee CH; Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.; Kim MS

Subjects: Mutation*; Keratin-14/Keratin-14/Keratin-14/*chemistry ; Keratin-14/Keratin-14/Keratin-14/*metabolism

  • Source: Structure (London, England : 1993) [Structure] 2020 Mar 03; Vol. 28 (3), pp. 355-362.e4. Date of Electronic Publication: 2020 Jan 28.Publisher: Cell Press Country of Publication: United States NLM ID: 101087697 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.

  • Authors : Yu Y; School of Medicine and Life Sciences, University of Jinan-Shandong Academy of Medical Sciences, Jinan, Shandong, China.; Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Venereology, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, Shandong, China.

Subjects: Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/*genetics ; Keratin-14/Keratin-14/Keratin-14/*genetics ; Keratin-5/Keratin-5/Keratin-5/*genetics

  • Source: The Australasian journal of dermatology [Australas J Dermatol] 2020 May; Vol. 61 (2), pp. e267-e269. Date of Electronic Publication: 2020 Jan 10.Publisher: Wiley-Blackwell Country of Publication: Australia NLM ID: 0135232 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Review

Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review.

Subjects: Mutation*; Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/*genetics ; Keratin-14/Keratin-14/Keratin-14/*geneticsEpidermolysis Bullosa Simplex, Autosomal Recessive

  • Source: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2018 Apr; Vol. 32 (4), pp. e149-e151. Date of Electronic Publication: 2017 OctPublisher: Wiley-Blackwell Country of Publication: England NLM ID: 9216037 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia.

  • Authors : Kim EN; Department of Dermatology, St George Hospital, Sydney, Australia.; Harris AG

Subjects: Mutation*; Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/*genetics ; Keratin-14/Keratin-14/Keratin-14/*genetics

  • Source: Acta dermato-venereologica [Acta Derm Venereol] 2017 Oct 02; Vol. 97 (9), pp. 1114-1119.Publisher: Society for the Publication of Acta Dermato-Venereologica Country of Publication: Sweden NLM ID: 0370310 Publication Model: Print Cited Medium:

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Academic Journal

[Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene].

  • Authors : Meng L; Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China. .; Du J

Subjects: Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/*genetics ; Keratin-14/Keratin-14/Keratin-14/*genetics ; Mutation/Mutation/Mutation/*genetics

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2017 Aug 10; Vol. 34 (4), pp. 504-508.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Report

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.

  • Authors : Kim E; Faculty of Medicine, Department of Medicine, University of South Wales, Sydney, NSW, 2050, Australia.; Department of Dermatology, St George Hospital, Sydney, NSW, 2217, Australia.

Subjects: Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/*genetics ; Keratin-14/Keratin-14/Keratin-14/*genetics ; Keratin-5/Keratin-5/Keratin-5/*genetics

  • Source: The British journal of dermatology [Br J Dermatol] 2017 Jul; Vol. 177 (1), pp. 262-264. Date of Electronic Publication: 2017 Jun 07.Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells.

  • Authors : D'Alessandro M; CR UK Cell Structure Research Group, Division of Molecular Medicine, College of Life Sciences, University of Dundee, Dundee, UK. ; Coats SE

Subjects: Genetic Therapy* ; Mutation*; Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/*therapy

  • Source: The Journal of investigative dermatology [J Invest Dermatol] 2011 Jul; Vol. 131 (7), pp. 1412-9. Date of Electronic Publication: 2011 Feb 17.Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

  • Authors : Bolling MC; Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, the Netherlands. ; Lemmink HH

Subjects: Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/Epidermolysis Bullosa Simplex/*genetics ; Keratin-14/Keratin-14/Keratin-14/*genetics ; Keratin-5/Keratin-5/Keratin-5/*genetics

  • Source: The British journal of dermatology [Br J Dermatol] 2011 Mar; Vol. 164 (3), pp. 637-44. Date of Electronic Publication: 2011 Feb 17.Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.

Subjects: Mutation*; Dermatology/Dermatology/Dermatology/*methods ; Keratin-14/Keratin-14/Keratin-14/*genetics

  • Source: The Journal of investigative dermatology [J Invest Dermatol] 2009 Jan; Vol. 129 (1), pp. 229-31. Date of Electronic Publication: 2008 Aug 14.Publisher: Elsevier Country of Publication: United States NLM ID: 0426720 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  363 results for ""Keratin-14""