SFB 1002 | D02: Neue Mechanismen der genomischen Instabilität bei Herzinsuffizienz RSS Feed


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  • 2024 | Journal Article
    ​ ​Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants​
    Knauer, C.; Haltern, H.; Schoger, E.; Kügler, S.; Roos, L.; Zelarayán, L. C. & Hasenfuss, G. et al.​ (2024) 
    Molecular Therapy - Nucleic Acids, 35(1) art. 102123​.​ DOI: https://doi.org/10.1016/j.omtn.2024.102123 
    ​Details  DOI  PMID  PMC 
  • 2023 | Journal Article | 
    ​ ​DNA Methylation Analysis Identifies Novel Epigenetic Loci in Dilated Murine Heart upon Exposure to Volume Overload​
    Xu, X.; Elkenani, M.; Tan, X.; Hain, J. katharina; Cui, B.; Schnelle, M. & Hasenfuss, G.  et al.​ (2023) 
    International Journal of Molecular Sciences, 24(6) pp. 5885​.​ DOI: https://doi.org/10.3390/ijms24065885 
    ​Details  DOI 
  • 2021 | Journal Article | Overview
    ​ ​Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy​
    Yigit, G. & Wollnik, B. ​ (2021) 
    Medizinische Genetik, 33(3) pp. 235​-243​.​ DOI: https://doi.org/10.1515/medgen-2021-2094 
    ​Details  DOI 
  • 2021 | Journal Article | Research Paper | 
    ​ ​Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state​
    Yigit, G.; Sheffer, R.; Daana, M.; Li, Y.; Kaygusuz, E.; Mor-Shakad, H. & Altmüller, J. et al.​ (2021) 
    Journal of Medical Genetics, 59(6) pp. 549​-553​.​ DOI: https://doi.org/10.1136/jmedgenet-2021-107769 
    ​Details  DOI  PMID  PMC 
  • 2021 | Journal Article | Research Paper
    ​ ​Caveolin3 Stabilizes McT1-Mediated Lactate/Proton Transport in Cardiomyocytes​
    Peper, J.; Kownatzki-Danger, D.; Weninger, G.; Seibertz, F.; Pronto, J. R. D.; Sutanto, H. & Pacheu-Grau, D. et al.​ (2021) 
    Circulation Research, 128(6).​ DOI: https://doi.org/10.1161/CIRCRESAHA.119.316547 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper | 
    ​ ​Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis​
    Ganapathi, M.; Argyriou, L.; Martínez-Azorín, F.; Morlot, S.; Yigit, G. ; Lee, T. M. & Auber, B. et al.​ (2020) 
    Human Genetics, 139(11) pp. 1443​-1454​.​ DOI: https://doi.org/10.1007/s00439-020-02188-6 
    ​Details  DOI  PMID  PMC 
  • 2020 | Journal Article | Research Paper
    ​ ​Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy​
    Hanses, U.; Kleinsorge, M.; Roos, L.; Yigit, G. ; Li, Y. ; Barbarics, B. & El-Battrawy, I. et al.​ (2020) 
    Circulation, 142(11) pp. 1059​-1076​.​ DOI: https://doi.org/10.1161/CIRCULATIONAHA.119.044794 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Overview
    ​ ​Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome​
    Schmidt, J.   & Wollnik, B. ​ (2018) 
    American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 178(4) pp. 398​-406​.​ DOI: https://doi.org/10.1002/ajmg.c.31668 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper | 
    ​ ​Mutations in TOP3A Cause a Bloom Syndrome-like Disorder​
    Martin, C.-A.; Sarlós, K.; Logan, C. V.; Thakur, R. S.; Parry, D. A.; Bizard, A. H. & Leitch, A. et al.​ (2018) 
    The American Journal of Human Genetics, 103(2) pp. 221​-231​.​ DOI: https://doi.org/10.1016/j.ajhg.2018.07.001 
    ​Details  DOI  PMID  PMC 
  • 2018 | Journal Article | Research Paper
    ​ ​Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome​
    Paolacci, S.; Li, Y. ; Agolini, E.; Bellacchio, E.; Arboleda-Bustos, C. E; Carrero, D. & Bertola, D. et al.​ (2018) 
    Journal of Medical Genetics, 55(12) pp. 837​-846​.​ DOI: https://doi.org/10.1136/jmedgenet-2018-105528 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article
    ​ ​De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development​
    Gordon, C. T.; Xue, S.; Yigit, G. ; Filali, H.; Chen, K.; Rosin, N.   & Yoshiura, K.-i. et al.​ (2017) 
    Nature Genetics, 49(2) pp. 249​-255​.​ DOI: https://doi.org/10.1038/ng.3765 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | Research Paper
    ​ ​De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction​
    Ehmke, N.; Graul-Neumann, L.; Smorag, L. ; Koenig, R.; Segebrecht, L.; Magoulas, P. & Scaglia, F. et al.​ (2017) 
    The American Journal of Human Genetics, 101(5) pp. 833​-843​.​ DOI: https://doi.org/10.1016/j.ajhg.2017.09.016 
    ​Details  DOI  PMID  PMC 
  • 2017 | Journal Article | Research Paper | 
    ​ ​Catecholamine-Dependent β-Adrenergic Signaling in a Pluripotent Stem Cell Model of Takotsubo Cardiomyopathy​
    Borchert, T. ; Hübscher, D. ; Guessoum, C. I. ; Lam, T. Lam, Tuan-Dinh D.; Ghadri, J. R.; Schellinger, I. N.   & Tiburcy, M.  et al.​ (2017) 
    Journal of the American College of Cardiology, 70(8) pp. 975​-991​.​ DOI: https://doi.org/10.1016/j.jacc.2017.06.061 
    ​Details  DOI  PMID  PMC 

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