Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Dean Liu + 573 word(s) 573 2020-12-15 07:58:45

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Liu, D. KRT14 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4337 (accessed on 26 September 2026).
Liu D. KRT14 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4337. Accessed September 26, 2026.
Liu, Dean. "KRT14 Gene" Encyclopedia, https://encyclopedia.pub/entry/4337 (accessed September 26, 2026).
Liu, D. (2020, December 23). KRT14 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4337
Liu, Dean. "KRT14 Gene." Encyclopedia. Web. 23 December, 2020.
KRT14 Gene
Edit

Keratin 14

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. 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.
  3. Goh BK, Common JE, Gan WH, Kumarasinghe P. A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from arecurrent KRT14 mutation. Clin Exp Dermatol. 2009 Apr;34(3):340-3. doi:10.1111/j.1365-2230.2008.02950.x.
  4. Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, HenniesHC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosareticularis: two allelic ectodermal dysplasias caused by dominant mutations inKRT14. Am J Hum Genet. 2006 Oct;79(4):724-30.
  5. Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R,Richard G, Sprecher E. KRT14 haploinsufficiency results in increasedsusceptibility of keratinocytes to TNF-alpha-induced apoptosis and causesNaegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2008Jun;128(6):1517-24.
  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, 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.
  8. 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.
  9. Titeux M, Mazereeuw-Hautier J, Hadj-Rabia S, Prost C, Tonasso L, Fraitag S, deProst Y, Hovnanian A, Bodemer C. Three severe cases of EBS Dowling-Meara causedby missense and frameshift mutations in the keratin 14 gene. J Invest Dermatol.2006 Apr;126(4):773-6.
  10. van Steensel MA, Lemmink HH. A missense mutation in KRT14 causing adermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. JEur Acad Dermatol Venereol. 2010 Sep;24(9):1116-7. doi:10.1111/j.1468-3083.2010.03598.x.
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Dean Liu
View Times: 934
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service