Browsing Fakultät für Biologie und Psychologie (inkl. GAUSS) by Referee "Wollnik, Bernd Prof. Dr."
Now showing items 1-4 of 4
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Genotype-Phenotype Correlation in Noonan Syndrome – Focus on LZTR1 and its Substrates
(2023-05-30)Noonan syndrome (NS) is a multisystemic disorder that is known as one of the most common monogenetic diseases associated with early-onset congenital heart defects, such as hypertrophic cardiomyopathy (HCM). Infants diagnosed ... -
Molecular mechanisms of replication stress-induced mitotic chromosome missegregation
(2022-12-09)Chromosomal instability (CIN), the process of the generation of structural and numerical changes in the karyotype, is a major hallmark of human cancer generating genetic variation, thereby driving tumor evolution and ... -
Molecular mechanisms underlying cortical (mal)formation: case studies of ESCO2 and EXOSC10
(2021-09-23)This work focuses on elucidating the molecular mechanisms that control the cortical development. Identification of genes and factors that direct the development of the cerebral cortex will both tell us about their ... -
Loss of Setd1b methyltransferase in the murine forebrain as a novel model for human intellectual disability
(2020-12-22)Methylation of histone 3 lysine 4 (H3K4me3) is an epigenetic mark for active transcription, which is mediated in mammals by six enzymes of the SET1/MLL family of histone methyltransferases (KMTs). All of them have been ...