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Liu, D. KRT5 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4347 (accessed on 22 September 2026).
Liu D. KRT5 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4347. Accessed September 22, 2026.
Liu, Dean. "KRT5 Gene" Encyclopedia, https://encyclopedia.pub/entry/4347 (accessed September 22, 2026).
Liu, D. (2020, December 23). KRT5 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4347
Liu, Dean. "KRT5 Gene." Encyclopedia. Web. 23 December, 2020.
KRT5 Gene
Edit

Keratin 5

genes

References

  1. Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, KohlhaseJ, Krieg T, Bruckner-Tuderman L, Has C. Identification of novel and known KRT5and KRT14 mutations in 53 patients with epidermolysis bullosa simplex:correlation between genotype and phenotype. Br J Dermatol. 2010Jun;162(6):1365-9. doi: 10.1111/j.1365-2133.2010.09657.x.
  2. Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van DenBogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nöthen MM,Magin TM, Kruse R. Loss-of-function mutations in the keratin 5 gene lead toDowling-Degos disease. Am J Hum Genet. 2006 Mar;78(3):510-9.
  3. Bolling MC, Lemmink HH, Jansen GH, Jonkman MF. Mutations in KRT5 and KRT14cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol. 2011Mar;164(3):637-44. doi: 10.1111/j.1365-2133.2010.10146.x.
  4. Hanneken S, Rütten A, Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L,Wenzel J, Braun-Falco M, Ruzicka T, Nöthen MM, Kruse R, Betz RC. Systematicmutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. Br J Dermatol. 2010 Jul;163(1):197-200. doi:10.1111/j.1365-2133.2010.09741.x.
  5. Li M, Wang J, Zhang J, Ni C, Li X, Liang J, Cheng R, Li Z, Yao Z. Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation ofKRT5 in a unique Chinese family with generalized Dowling-Degos disease. Br JDermatol. 2016 Mar;174(3):663-6. doi: 10.1111/bjd.14178.
  6. Müller FB, Küster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T,Korge BP, Arin MJ. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. Hum Mutat. 2006 Jul;27(7):719-20.
  7. Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [updated2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1369/
  8. Pfendner EG, Sadowski SG, Uitto J. Epidermolysis bullosa simplex: recurrentand de novo mutations in the KRT5 and KRT14 genes, phenotype/genotypecorrelations, and implications for genetic counseling and prenatal diagnosis. JInvest Dermatol. 2005 Aug;125(2):239-43.
  9. Planko L, Böhse K, Höhfeld J, Betz RC, Hanneken S, Eigelshoven S, Kruse R,Nöthen MM, Magin TM. Identification of a keratin-associated protein with aputative role in vesicle transport. Eur J Cell Biol. 2007 Dec;86(11-12):827-39.
  10. Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H.Mutation analysis of the entire keratin 5 and 14 genes in patients withepidermolysis bullosa simplex and identification of novel mutations. Hum Mutat.2003 Apr;21(4):447. Review.
  11. Verma S, Pasternack SM, Rütten A, Ruzicka T, Betz RC, Hanneken S. The FirstReport of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease withMottled Hypopigmentation in an Indian Family. Indian J Dermatol. 2014Sep;59(5):476-80. doi: 10.4103/0019-5154.139884.
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