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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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
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?