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1993 1
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PubMed for id: 1159261161

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Page 1
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14.
Kosykh AV, Ryumina II, Botkina AS, Evtushenko NA, Zhigmitova EB, Martynova AA, Gurskaya NG, Rebrikov DV. Kosykh AV, et al. Int J Mol Sci. 2024 Mar 4;25(5):2989. doi: 10.3390/ijms25052989. Int J Mol Sci. 2024. PMID: 38474236 Free PMC article.
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC, Al-Shinnag M, Silljé HHW, Gaytan AE, Murrell DF, McGaughran J, Melbourne W, Cowan T, van den Akker PC, van Spaendonck-Zwarts KY, van der Meer P, Bolling MC. Vermeer MCSC, et al. Br J Dermatol. 2022 Dec;187(6):1045-1048. doi: 10.1111/bjd.21832. Epub 2022 Sep 9. Br J Dermatol. 2022. PMID: 35975634 Free PMC article.
Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy.
Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, El Hachem M, Magenta A, Candi E, Condorelli AG. Logli E, et al. Hum Mol Genet. 2022 Apr 22;31(8):1308-1324. doi: 10.1093/hmg/ddab318. Hum Mol Genet. 2022. PMID: 34740256 Free PMC article.
Update on the Kelch-like (KLHL) gene family.
Dhanoa BS, Cogliati T, Satish AG, Bruford EA, Friedman JS. Dhanoa BS, et al. Hum Genomics. 2013 May 15;7(1):13. doi: 10.1186/1479-7364-7-13. Hum Genomics. 2013. PMID: 23676014 Free PMC article.
Epidermolysis Bullosa Simplex.
So JY, Teng J. So JY, et al. 1998 Oct 7 [updated 2022 Aug 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1998 Oct 7 [updated 2022 Aug 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301543 Free Books & Documents. Review.
KRIP6: a novel BTB/kelch protein regulating function of kainate receptors.
Laezza F, Wilding TJ, Sequeira S, Coussen F, Zhang XZ, Hill-Robinson R, Mulle C, Huettner JE, Craig AM. Laezza F, et al. Mol Cell Neurosci. 2007 Apr;34(4):539-50. doi: 10.1016/j.mcn.2006.12.003. Epub 2007 Jan 24. Mol Cell Neurosci. 2007. PMID: 17254796 Free PMC article.