D
Darío G. Lupiáñez
Researcher at Max Delbrück Center for Molecular Medicine
Publications - 34
Citations - 3472
Darío G. Lupiáñez is an academic researcher from Max Delbrück Center for Molecular Medicine. The author has contributed to research in topics: Gene & Biology. The author has an hindex of 13, co-authored 25 publications receiving 2570 citations. Previous affiliations of Darío G. Lupiáñez include Max Planck Society & Charité.
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Journal ArticleDOI
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions
Darío G. Lupiáñez,Darío G. Lupiáñez,Katerina Kraft,Katerina Kraft,Verena Heinrich,Peter Krawitz,Peter Krawitz,Francesco Brancati,Eva Klopocki,Denise Horn,Hülya Kayserili,John M. Opitz,Renata Laxova,Fernando Santos-Simarro,Fernando Santos-Simarro,Brigitte Gilbert-Dussardier,Lars Wittler,Marina Borschiwer,Stefan A. Haas,Marco Osterwalder,Martin Franke,Martin Franke,Bernd Timmermann,Jochen Hecht,Jochen Hecht,Malte Spielmann,Malte Spielmann,Axel Visel,Axel Visel,Axel Visel,Stefan Mundlos,Stefan Mundlos +31 more
TL;DR: The results demonstrate the functional importance of TADs for orchestrating gene expression via genome architecture and indicate criteria for predicting the pathogenicity of human structural variants, particularly in non-coding regions of the human genome.
Journal ArticleDOI
Structural variation in the 3D genome.
TL;DR: The authors review the role of genetic structural variation in disease and the pathogenic potential of changes to the 3D genome.
Journal ArticleDOI
Breaking TADs: How Alterations of Chromatin Domains Result in Disease.
Darío G. Lupiáñez,Darío G. Lupiáñez,Malte Spielmann,Malte Spielmann,Stefan Mundlos,Stefan Mundlos +5 more
TL;DR: This review summarizes the most recent findings about TADs and the boundary regions separating them and discusses how the disruption of these structures by genomic rearrangements can result in gene misexpression and disease.
Journal ArticleDOI
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice
Katerina Kraft,Sinje Geuer,Anja J. Will,Wing Lee Chan,Christina Paliou,Marina Borschiwer,Izabela Harabula,Lars Wittler,Martin Franke,Daniel M. Ibrahim,Bjørt K Kragesteen,Malte Spielmann,Stefan Mundlos,Darío G. Lupiáñez,Guillaume Andrey +14 more
TL;DR: The use of CRISPR/Cas is presented for the fast (10 weeks) and efficient generation of SVs in mice and permits rapid in vivo modeling of genomic rearrangements.
Journal ArticleDOI
Polymer physics predicts the effects of structural variants on chromatin architecture.
Simona Bianco,Darío G. Lupiáñez,Andrea M. Chiariello,Carlo Annunziatella,Katerina Kraft,Katerina Kraft,Robert Schöpflin,Lars Wittler,Guillaume Andrey,Martin Vingron,Ana Pombo,Stefan Mundlos,Stefan Mundlos,Mario Nicodemi +13 more
TL;DR: It is shown that SVs can reconfigure topologically associating domains, thereby producing extensive rewiring of regulatory interactions and causing disease by gene misexpression and providing a tool for analyzing the disease-causing potential of SVs.