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PubMed (GeneRIF) for id: 54800

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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.
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hedberg-Oldfors C, Abramsson A, Osborn DPS, Danielsson O, Fazlinezhad A, Nilipour Y, Hübbert L, Nennesmo I, Visuttijai K, Bharj J, Petropoulou E, Shoreim A, Vona B, Ahangari N, López MD, Doosti M, Banote RK, Maroofian R, Edling M, Taherpour M, Zetterberg H, Karimiani EG, Oldfors A, Jamshidi Y. Hedberg-Oldfors C, et al. Hum Mol Genet. 2019 Jun 1;28(11):1919-1929. doi: 10.1093/hmg/ddz032. Hum Mol Genet. 2019. PMID: 30715372 Free PMC article.
Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24.
Yenamandra VK, van den Akker PC, Lemmink HH, Jan SZ, Diercks GFH, Vermeer M, van den Berg MP, van der Meer P, Pasmooij AMG, Sinke RJ, Jonkman MF, Bolling MC. Yenamandra VK, et al. Br J Dermatol. 2018 Nov;179(5):1181-1183. doi: 10.1111/bjd.16797. Epub 2018 Aug 14. Br J Dermatol. 2018. PMID: 29779254 No abstract available.
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
He Y, Maier K, Leppert J, Hausser I, Schwieger-Briel A, Weibel L, Theiler M, Kiritsi D, Busch H, Boerries M, Hannula-Jouppi K, Heikkilä H, Tasanen K, Castiglia D, Zambruno G, Has C. He Y, et al. Am J Hum Genet. 2016 Dec 1;99(6):1395-1404. doi: 10.1016/j.ajhg.2016.11.005. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889062 Free PMC article.
12 results