Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations

Autor: Thomas Harasim, Teresa Neuhann, Anne Behnecke, Miriam Stampfer, Elke Holinski-Feder, Angela Abicht

Publikováno v: Journal of Clinical Medicine; Volume 11; Issue 2; Pages: 372
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 11, Iss 372, p 372 (2022)

Objective: Amniocentesis, chorionic villi sampling and first trimester combined testing are able to screen for common trisomies 13, 18, and 21 and other atypical chromosomal anomalies (ACA). The most frequent atypical aberrations reported are rare au

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d3f503490bffaca28d5502297f18c91

Limited sensitivity of NGS-based detection of unbalanced products from reciprocal translocations inpolar bodies and blastocysts

Autor: Katarzyna Osetek, Alexandra Kotanidou, Imma Rost, Thomas Harasim, A Wagner, Hanns-Georg Klein

Publikováno v: Reproductive BioMedicine Online. 38:e33-e34

Introduction Numerous publications have demonstrated that preimplantation genetic diagnosis (PGD) increases the implantation rate and percentage of healthy newborns or at least decreases themiscarriage rate for translocation carriers with recurrent p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c83b0838010522dee99298a84931f25e
https://doi.org/10.1016/j.rbmo.2019.03.055

Defects in 18 S or 28 S rRNA Processing Activate the p53 Pathway

Autor: Julia Hochstatter, Dirk Eick, Michael Hölzel, Thomas Harasim, Gernot Längst, Anastassia Malamoussi, Michaela Rohrmoser, Mathias Orban, Elisabeth Kremmer

Publikováno v: J. Biol. Chem. 285, 6364-6370 (2010)

The p53 tumor suppressor pathway is activated by defective ribosome synthesis. Ribosomal proteins are released from the nucleolus and block human double minute-2 (Hdm2) that targets p53 for degradation. However, it remained elusive how abrogation of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19baec02e1dbf88f28b6f2002ffbc55e
https://doi.org/10.1074/jbc.m109.054734

Mammalian WDR12 is a novel member of the Pes1–Bop1 complex and is required for ribosome biogenesis and cell proliferation

Autor: Thomas Grimm, Dirk Eick, Michaela Rohrmoser, Anita Gruber-Eber, Martin Schlee, Georg W. Bornkamm, Anastassia Malamoussi, Elisabeth Kremmer, Michael Hölzel, Thomas Harasim, Wolfgang Hiddemann

Publikováno v: The Journal of Cell Biology

Target genes of the protooncogene c-myc are implicated in cell cycle and growth control, yet the linkage of both is still unexplored. Here, we show that the products of the nucleolar target genes Pes1 and Bop1 form a stable complex with a novel membe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81842ab87058fd1423d9f0225ef8e9a0
https://doi.org/10.1083/jcb.200501141

The BRCT domain of mammalian Pes1 is crucial for nucleolar localization and rRNA processing

Autor: Anastassia Malamoussi, Elisabeth Kremmer, Anita Gruber-Eber, Michael Hölzel, Thomas Harasim, Michaela Rohrmoser, Dirk Eick, Thomas Grimm

Publikováno v: Nucleic Acids Res. 35, 789-800 (2007)
Nucleic Acids Research

The nucleolar protein Pes1 interacts with Bop1 and WDR12 in a stable complex (PeBoW-complex) and its expression is tightly associated with cell proliferation. The yeast homologue Nop7p (Yph1p) functions in both, rRNA processing and cell cycle progres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80e797e8b387383aa2fc205830018d90
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=3935