Protocols

Publications

Hoffmann S and Seeger T. Advances in human induced pluripotent stem cell (hiPSC)-based disease modelling in cardiogenetics. Med Genet 37(2):137–146; 2025; doi: 10.1515/medgen-2025-2009.

 

Rädecke K, Gore A, Burau K, Laugsch M, Köhler K, Rappold GA, Hoffmann S. Generation of two homozygous SHOX2 knock-out human induced pluripotent stem cell lines using CRISPR/Cas9. Stem Cell Res 69:103089; 2023; doi: 10.1016/j.scr.2023.103089.

 

Hoffmann S, Roeth R, Diebold S, Gogel J, Hassel D, Just S, Rappold GA. Identification and tissue-specific characterization of novel SHOX-regulated genes in zebrafish highlights SOX family members among other genes. Front Genet. 2021 May 27, doi:10.3389/fgene.2021.688808.

 

Hoffmann S, Schmitteckert S, Raedecke K, Rheinert D, Diebold S, Roeth R, Weiss B, Granzow M, Niesler B, Griesbeck A, Eckstein V, Zimmermann WH, Just S, Rappold GA. Network-driven discovery yields new insight into Shox2-dependent cardiac rhythm control. Biochim Biophys Acta Gene Regul Mech 1864(4-5):194702; 2021; doi: 10.1016/j.bbagrm.2021.194702.

 

Sumer SA*, Hoffmann S*, Laue S, Campbell B, Raedecke K, Frajs V, Clauss S, Kääb S, Janssen JWG, Jauch A, Laugwitz KL, Dorn T, Moretti A, Rappold GA. Precise Correction of Heterozygous SHOX2 Mutations in hiPSCs Derived from Patients with Atrial Fibrillation via Genome Editing and Sib Selection. Stem Cell Reports 15(4):999-1013; 2020; doi:10.1016/j.stemcr.2020.08.015.

 

Hoffmann S, Paone C, Sumer SA, Diebold S, Weiss B, Roeth R, Clauss S, Klier I, Kääb S, Zeller T, Schulz A, Wild P, Ghrib A, Schnabel BR, Just S, Rappold GA. Functional characterization of rare variants in the SHOX2 Gene identified in sinus node dysfunction and atrial fibrillation. Front Genet 10:648; 2019; doi:10.3389/fgene.2019.00648.

 

Schmitteckert S, Griesbeck A, Sumer S, Rolletschek A, Niesler B, Rappold GA, Hoffmann S. Murine transgenic embryonic stem cell lines for the investigation of sinoatrial node-related molecular pathways. Stem Cell Res 25:278-282; 2017; doi: 10.1016/j.scr.2017.07.011.

 

Hoffmann S*, Schmitteckert S*, Griesbeck A, Preiss H, Sumer S, Rolletschek A, Granzow M, Eckstein V, Niesler B, Rappold GA. Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells. Stem Cell Res 21:51-57. 2017; doi.org/10.1016/j.scr.2017.03.018.

 

Hoffmann S, Clauss S, Berger IM, Weiß B, Montalbano A, Röth R, Bucher M, Klier I, Wakili R, Seitz H, Schulze-Bahr E, Katus HA, Flachsbart F, Nebel A, Guenther SPW, Bagaev E, Rottbauer W, Kääb S, Just S, Rappold GA (2016) Coding and non-coding variants in the SHOX2 gene in patients with early-onset atrial fibrillation. Basic Res Cardiol 111(3):36; 2016; doi: 10.1007/s00395-016-0557-2.

 

Hoffmann S, Berger IM, Glaser A, Bacon C, Li L, Gretz N, Steinbeisser H, Rottbauer W, Just S, Rappold G. Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 and rescues the Shox2-mediated bradycardia. Basic Res Cardiol 108(2):339; 2013; doi: 10.1007/s00395-013-0339-z.

 

Puskaric (=Hoffmann) S, Schmitteckert S, Mori AD, Glaser A, Schneider KU, Bruneau BG, Blaschke RJ, Steinbeisser H, Rappold G. Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart. Hum Mol Genet 19(23):4625-33; 2010; doi: 10.1093/hmg/ddq393.

 

 

(* shared authorship)