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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1998 1
2002 1
2003 1
2004 1
2007 1
2008 1
2009 2
2010 1
2011 1
2013 2
2015 2
2016 2
2017 3
2018 3
2019 2
2020 3
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2022 7
2024 1

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PubMed (RefSeq) for id: 1159261161

34 results

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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.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, Szpyt J, Gassaway BM, Panov A, Parzen H, Fu S, Golbazi A, Maenpaa E, Stricker K, Guha Thakurta S, Zhang T, Rad R, Pan J, Nusinow DP, Paulo JA, Schweppe DK, Vaites LP, Harper JW, Gygi SP. Huttlin EL, et al. Cell. 2021 May 27;184(11):3022-3040.e28. doi: 10.1016/j.cell.2021.04.011. Epub 2021 May 6. Cell. 2021. PMID: 33961781 Free PMC article.
34 results