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A second hotspot for pathogenic exon-skipping variants in CDC45.
Eur J Hum Genet. 2024 Mar 11. doi: 10.1038/s41431-024-01583-1. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38467731
Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy.
Abreo TJ, Thompson EC, Madabushi A, Soh H, Varghese N, Vanoye CG, Springer K, Park KL, Johnson J, Sims S, Ji Z, Chavez AG, Jankovic MJ, Habte B, Zuberi A, Lutz C, Wang Z, Krishnan V, Dudler L, Einsele-Scholz S, Noebels JL, George AL Jr, Maheshwari A, Tzingounis AV, Cooper EC.
Abreo TJ, et al. Among authors: einsele scholz s.
bioRxiv [Preprint]. 2024 Feb 8:2024.01.04.574177. doi: 10.1101/2024.01.04.574177.
bioRxiv. 2024.
PMID: 38260608
Free PMC article.
Preprint.
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Contribution of BH3-domain and Transmembrane-domain to the Activity and Interaction of the Pore-forming Bcl-2 Proteins Bok, Bak, and Bax.
Stehle D, Grimm M, Einsele-Scholz S, Ladwig F, Johänning J, Fischer G, Gillissen B, Schulze-Osthoff K, Essmann F.
Stehle D, et al. Among authors: einsele scholz s.
Sci Rep. 2018 Aug 20;8(1):12434. doi: 10.1038/s41598-018-30603-6.
Sci Rep. 2018.
PMID: 30127460
Free PMC article.
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Bok is a genuine multi-BH-domain protein that triggers apoptosis in the absence of Bax and Bak.
Einsele-Scholz S, Malmsheimer S, Bertram K, Stehle D, Johänning J, Manz M, Daniel PT, Gillissen BF, Schulze-Osthoff K, Essmann F.
Einsele-Scholz S, et al.
J Cell Sci. 2016 Aug 1;129(15):3054. doi: 10.1242/jcs.193946.
J Cell Sci. 2016.
PMID: 27505430
No abstract available.
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Bok is a genuine multi-BH-domain protein that triggers apoptosis in the absence of Bax and Bak.
Einsele-Scholz S, Malmsheimer S, Bertram K, Stehle D, Johänning J, Manz M, Daniel PT, Gillissen BF, Schulze-Osthoff K, Essmann F.
Einsele-Scholz S, et al.
J Cell Sci. 2016 Jun 1;129(11):2213-23. doi: 10.1242/jcs.181727. Epub 2016 Apr 13.
J Cell Sci. 2016.
PMID: 27076518
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Interrogating Substrate Selectivity and Composition of Endogenous Histone Deacetylase Complexes with Chemical Probes.
Dose A, Sindlinger J, Bierlmeier J, Bakirbas A, Schulze-Osthoff K, Einsele-Scholz S, Hartl M, Essmann F, Finkemeier I, Schwarzer D.
Dose A, et al. Among authors: einsele scholz s.
Angew Chem Int Ed Engl. 2016 Jan 18;55(3):1192-5. doi: 10.1002/anie.201508174. Epub 2015 Dec 14.
Angew Chem Int Ed Engl. 2016.
PMID: 26662792
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