Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Kristin Mrasek"'
Autor:
Abdulsamad Wafa, Belal Ali, Faten Moassass, Maged Kheder, Abdulmunim Aljapawe, Bassel Al‐Halabi, Kristin Mrasek, Thomas Liehr, Walid Al‐Achkar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)
Abstract Background Familial cases of adult acute myeloid leukemia (AML) with germline‐mutated CCAAT/enhancer‐binding protein‐α (CEBPA) gene are a rare entity classified in World Health Organization (WHO) classification 2016. Most families rep
Externí odkaz:
https://doaj.org/article/451c50678499464b97dab51cb8dea3ce
Autor:
Thomas Liehr, Isolde Schreyer, Alma Kuechler, Emmanouil Manolakos, Sylke Singer, Andreas Dufke, Kathleen Wilhelm, Tereza Jančušková, Radek Čmejla, Moneeb A. K. Othman, Ahmed H. Al-Rikabi, Kristin Mrasek, Monika Ziegler, Stefanie Kankel, Katharina Kreskowski, Anja Weise
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a s
Externí odkaz:
https://doaj.org/article/2f1d056e4fde486589670468907f3f98
Autor:
Thomas Liehr, Anja Weise, Kristin Mrasek, Monika Ziegler, Niklas Padutsch, Kathleen Wilhelm, Ahmed Al-Rikabi
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
A balanced pericentric inversion is normally without any clinical consequences for its carrier. However, there is a well-known risk of such inversions to lead to unbalanced offspring. Inversion-loop formation is the mechanism which may lead to duplic
Externí odkaz:
https://doaj.org/article/10a5cf74b6434e68a22d746fb7ba199a
Autor:
Moneeb A.K. Othman, Amelie Lier, Susann Junker, Philipp Kempf, Franziska Dorka, Erich Gebhart, Frenny J. Sheth, Beata Grygalewicz, Samarth Bhatt, Anja Weise, Kristin Mrasek, Thomas Liehr, Marina Manvelyan
Publikováno v:
BioDiscovery, Vol 4, Iss , Pp 1-5 (2012)
The impact of chromosome architecture in the formation of chromosome aberrations is a recent finding of interphase directed molecular cytogenetic studies. There evidence was provided that disease specific chromosomal translocations could be due to ti
Externí odkaz:
https://doaj.org/article/513c70f80b3b441ab4176526fb9207aa
Autor:
Xiaobo Fan, Weerayuth Supiwong, Anja Weise, Kristin Mrasek, Nadezda Kosyakova, Alongkoad Tanomtong, Krit Pinthong, Vladimir A. Trifonov, Marcelo de Bello Cioffi, Pierre Grothmann, Thomas Liehr, Edivaldo H.C.de Oliveira
Publikováno v:
Heliyon, Vol 1, Iss 3 (2015)
Comparative cytogenetic analysis in New World Monkeys (NWMs) using human multicolor banding (MCB) probe sets were not previously done. Here we report on an MCB based FISH-banding study complemented with selected locus-specific and heterochromatin spe
Externí odkaz:
https://doaj.org/article/43236423d0fc40edb2e57d6d13fe6fbd
Autor:
Hasmik Mkrtchyan, Madeleine Gross, Sophie Hinreiner, Anna Polytiko, Marina Manvelyan, Kristin Mrasek, Nadezda Kosyakova, Elisabeth Ewers, Heike Nelle, Thomas Liehr, Marianne Volleth, Anja Weise
Publikováno v:
PLoS ONE, Vol 5, Iss 3, p e9591 (2010)
The discovery of copy number variations (CNV) in the human genome opened new perspectives on the study of the genetic causes of inherited disorders and the aetiology of common diseases. Here, a single-cell-level investigation of CNV in different huma
Externí odkaz:
https://doaj.org/article/0716b224f2244967a53e5195644499f0
Publikováno v:
International Journal of Laboratory Hematology. 44:993-994
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6563ebb106a28b80f65d30854eb0431e
https://doi.org/10.1111/ijlh.13872
https://doi.org/10.1111/ijlh.13872
Publikováno v:
Medizinische Genetik. 31:8-19
Chromosomes were discovered more than 130 years ago. The implementation of chromosomal investigations in clinical diagnostics was fueled by determining the correct number of human chromosomes to be 46 and the development of specific banding technique
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::666b961b624b73d0dc1134e6d10efa56
https://doi.org/10.1007/s11825-019-0236-4
https://doi.org/10.1007/s11825-019-0236-4
Autor:
Shaymaa Azawi, Kristin Mrasek, Mohamed E.M. Saeed, Onat Kadioglu, Nuha Mahmoud, Thomas Efferth, Thomas Liehr
Publikováno v:
Life sciences. 284
Aims Epidermal growth factor receptor (EGFR) is not only involved in carcinogenesis, but also in chemoresistance. We characterized U87.MGΔEGFR glioblastoma cells with constitutively active EGFR due to deletion at the ligand binding domain in terms o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18198435b475ce0eacc2d485f35be3a9
https://pubmed.ncbi.nlm.nih.gov/33991550
https://pubmed.ncbi.nlm.nih.gov/33991550
Autor:
Thomas Liehr, Kristin Mrasek, Onat Kadioglu, Mohamed E.M. Saeed, Nuha Mahmoud, Thomas Efferth, Shaymaa Azawi
Publikováno v:
Archives of Toxicology
TP53 (p53) is a pivotal player in tumor suppression with fifty percent of all invasive tumors displaying mutations in the TP53 gene. In the present study, we characterized colon cancer cells (HCT116 p53 −/−) with TP53 deletion, a sub-line derived
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b3d524319c96f2e276663c38ec74ac4
https://pubmed.ncbi.nlm.nih.gov/33515271
https://pubmed.ncbi.nlm.nih.gov/33515271