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Izabela Harabula
Researcher at Humboldt University of Berlin
Publications - 11
Citations - 580
Izabela Harabula is an academic researcher from Humboldt University of Berlin. The author has contributed to research in topics: Gene & Chromatin. The author has an hindex of 7, co-authored 10 publications receiving 355 citations. Previous affiliations of Izabela Harabula include Max Planck Society & Max Delbrück Center for Molecular Medicine.
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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
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis
Bjørt K Kragesteen,Malte Spielmann,Malte Spielmann,Christina Paliou,Christina Paliou,Verena Heinrich,Robert Schöpflin,Robert Schöpflin,Andrea Esposito,Carlo Annunziatella,Simona Bianco,Andrea M. Chiariello,Ivana Jerković,Ivana Jerković,Izabela Harabula,Philine Guckelberger,Michael Pechstein,Lars Wittler,Wing Lee Chan,Martin Franke,Martin Franke,Darío G. Lupiáñez,Katerina Kraft,Katerina Kraft,Bernd Timmermann,Martin Vingron,Axel Visel,Axel Visel,Axel Visel,Mario Nicodemi,Stefan Mundlos,Stefan Mundlos,Guillaume Andrey,Guillaume Andrey +33 more
TL;DR: Tissue-specific three-dimensional chromatin conformation can contribute to enhancer activity and specificity in vivo and its disturbance can result in gene misexpression and disease.
Journal ArticleDOI
Cell-type specialization is encoded by specific chromatin topologies.
Warren Winick-Ng,Alexander Kukalev,Izabela Harabula,Izabela Harabula,Luna Zea-Redondo,Luna Zea-Redondo,Dominik Szabo,Dominik Szabo,Mandy Meijer,Leonid Serebreni,Leonid Serebreni,Yingnan Zhang,Simona Bianco,Andrea M. Chiariello,Ibai Irastorza-Azcarate,Christoph J. Thieme,Thomas M Sparks,Sílvia Carvalho,Luca Fiorillo,Francesco Musella,Ehsan Irani,Elena Torlai Triglia,Elena Torlai Triglia,Aleksandra A. Kolodziejczyk,Aleksandra A. Kolodziejczyk,Aleksandra A. Kolodziejczyk,Andreas Abentung,Andreas Abentung,Galina Apostolova,Eleanor J. Paul,Eleanor J. Paul,Vedran Franke,Rieke Kempfer,Rieke Kempfer,Altuna Akalin,Sarah A. Teichmann,Sarah A. Teichmann,Georg Dechant,Mark A. Ungless,Mario Nicodemi,Lonnie R. Welch,Gonçalo Castelo-Branco,Ana Pombo,Ana Pombo +43 more
TL;DR: In this article, an extension of genome architecture mapping (GAM) was developed to map 3D chromatin topology genome-wide in specific brain cell types, without tissue disruption, from single animals.
Journal ArticleDOI
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Malte Spielmann,Malte Spielmann,Naseebullah Kakar,Naseebullah Kakar,Naeimeh Tayebi,Catherine Leettola,Gudrun Nürnberg,Nadine Sowada,Darío G. Lupiáñez,Darío G. Lupiáñez,Izabela Harabula,Ricarda Flöttmann,Denise Horn,Wing Lee Chan,Lars Wittler,Rüstem Yilmaz,Janine Altmüller,Holger Thiele,Hans van Bokhoven,Charles E. Schwartz,Peter Nürnberg,James U. Bowie,Jamil Ahmad,Christian Kubisch,Stefan Mundlos,Stefan Mundlos,Guntram Borck +26 more
TL;DR: This work describes an autosomal recessive human disease in two unrelated families characterized by a split-foot defect, nail abnormalities of the hands, and hearing loss, due to mutations disrupting the SAM domain of the protein kinase ZAK, which is identified as a key player in mammalian limb patterning.
Journal ArticleDOI
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
Nadja Ehmke,Almuth Caliebe,Rainer Koenig,Sarina G. Kant,Zornitza Stark,Valérie Cormier-Daire,Dagmar Wieczorek,Gabriele Gillessen-Kaesbach,Kirstin Hoff,Amit Kawalia,Holger Thiele,Janine Altmüller,Björn Fischer-Zirnsak,Alexej Knaus,Na Zhu,Verena Heinrich,Céline Huber,Izabela Harabula,Malte Spielmann,Denise Horn,Uwe Kornak,Jochen Hecht,Peter Krawitz,Peter Nürnberg,Reiner Siebert,Hermann Manzke,Stefan Mundlos +26 more
TL;DR: In this article, the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing was described.