Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Bjørt K Kragesteen"'
Autor:
Bjørt K. Kragesteen, Amir Giladi, Eyal David, Shahar Halevi, Laufey Geirsdóttir, Olga M. Lempke, Baoguo Li, Andreas M. Bapst, Ken Xie, Yonatan Katzenelenbogen, Sophie L. Dahl, Fadi Sheban, Anna Gurevich-Shapiro, Mor Zada, Truong San Phan, Roberto Avellino, Shuang-Yin Wang, Oren Barboy, Shir Shlomi-Loubaton, Sandra Winning, Philipp P. Markwerth, Snir Dekalo, Hadas Keren-Shaul, Merav Kedmi, Martin Sikora, Joachim Fandrey, Thorfinn S. Korneliussen, Josef T. Prchal, Barak Rosenzweig, Vladimir Yutkin, Fernando Racimo, Eske Willerslev, Chamutal Gur, Roland H. Wenger, Ido Amit
Publikováno v:
Nature Medicine. 29:1191-1200
Autor:
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
Publikováno v:
Cell Reports, Vol 10, Iss 5, Pp 833-839 (2015)
Structural variations (SVs) contribute to the variability of our genome and are often associated with disease. Their study in model systems was hampered until now by labor-intensive genetic targeting procedures and multiple mouse crossing steps. Here
Externí odkaz:
https://doaj.org/article/1dd3ee1f85b7489a97143d51e0609733
Autor:
Ido Amit, Bjørt K. Kragesteen
Publikováno v:
Nature Immunology. 22:678-680
Chromatin undergoes extensive reprogramming during immune cell differentiation. Histone clipping, an underexplored epigenetic mechanism, ensures precise macrophage development and function and is now found to be dysregulated in autoinflammatory disea
Autor:
Ewelina Bukowska-Olech, Robert Schöpflin, Verena Heinrich, Magdalena Socha, Martin Franke, Varun K. A. Sreenivasan, Uirá Souto Melo, Inga Nagel, Cristina López, Aleksander Jamsheer, Martin Vingron, Anna Sowińska-Seidler, Stefan Mundlos, Nicolas Gruchy, Bjørt K Kragesteen, Malte Spielmann
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (9), pp.1725-1734. ⟨10.1016/j.ajhg.2021.08.001⟩
Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
instname
The American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (9), pp.1725-1734. ⟨10.1016/j.ajhg.2021.08.001⟩
Am J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
instname
The American Journal of Human Genetics
Copy-number variations (CNVs) are a common cause of congenital limb malformations and are interpreted primarily on the basis of their effect on gene dosage. However, recent studies show that CNVs also influence the 3D genome chromatin organization. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c08a1a10d20ce527ff7c6de3d5fe37
https://hal-normandie-univ.archives-ouvertes.fr/hal-03351770
https://hal-normandie-univ.archives-ouvertes.fr/hal-03351770
Autor:
Bjørt K, Kragesteen, Ido, Amit
Publikováno v:
Nature immunology
Chromatin undergoes extensive reprogramming during immune cell differentiation. Here we report repression of controlled histone H3 amino-terminus proteolytic cleavage (H3ΔN) during monocyte-to-macrophage development. This abundant histone mark in hu
Autor:
Stefan Mundlos, Malte Spielmann, Bjørt K Kragesteen, Maria Cristina Digilio, Francesco Brancati
Publikováno v:
Journal of Medical Genetics. 56:246-251
BackgroundStructural variants (SVs) affecting non-coding cis-regulatory elements are a common cause of congenital limb malformation. Yet, the functional interpretation of these non-coding variants remains challenging. The human Liebenberg syndrome is
Autor:
Aleksander Jamsheer, Stefan Mundlos, Laure Bosquillon de Jarcy, Anna Sowińska-Seidler, Lila Allou, Meredith Wilson, Barbara Oehl-Jaschkowitz, Magdalena Socha, Idit Maya, Roger Mountford, Denise Horn, Malte Spielmann, Wiebke Hülsemann, Johannes Wagner, Fernando Santos-Simarro, Bjørt K Kragesteen, Eva Klopocki, Pablo Lapunzina, Guntram Borck, Lars Wittler, Ingo Kurth, Denis Duboule, Alan Fryer, Deepthi De Silva, Bénédicte Mascrez, Ricarda Flöttmann, Sinje Geuer
Publikováno v:
GENETICS IN MEDICINE
PurposeCopy-number variants (CNVs) are generally interpreted by linking the effects of gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains challenging. We investigated the percentage of disease-associated CNVs in patien
Autor:
Isabella Ceccherini, Izabela Harabula, Peter Krawitz, Bjørt K Kragesteen, Debra E. Weese-Mayer, Malte Spielmann, Stefan Mundlos, Norma Leonard, Luis R. Hernandez-Miranda, Carmen Birchmeier
Publikováno v:
Journal of Medical Genetics. 54:754-761
Background Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening disorder of respiratory and autonomic regulation. It is classically caused by dominant mutations in the transcription factor PHOX2B . The objective of the presen
Publikováno v:
GENETICS IN MEDICINE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e4cf6792e1b71cfca2ddc6e63dd1a4b
https://hdl.handle.net/21.11116/0000-0003-5A4D-321.11116/0000-0003-5A4F-1
https://hdl.handle.net/21.11116/0000-0003-5A4D-321.11116/0000-0003-5A4F-1
Autor:
Carlo Annunziatella, Verena Heinrich, Guillaume Andrey, Robert Schöpflin, Martin Franke, Christina Paliou, Katerina Kraft, Philine Guckelberger, Michael Pechstein, Bjørt K Kragesteen, Andrea M. Chiariello, Lars Wittler, Malte Spielmann, Bernd Timmermann, Stefan Mundlos, Andrea Esposito, Axel Visel, Ivana Jerković, Darío G. Lupiáñez, Martin Vingron, Simona Bianco, Mario Nicodemi, Wing Lee Chan, Izabela Harabula
Publikováno v:
Nat Genet
Nature Genetics, Vol. 50, No 10 (2018) pp. 1463-1473
Nature genetics, vol 50, iss 10
Nature Genetics, Vol. 50, No 10 (2018) pp. 1463-1473
Nature genetics, vol 50, iss 10
The regulatory specificity of enhancers and their interaction with gene promoters is thought to be controlled by their sequence and the binding of transcription factors. By studying Pitx1, a regulator of hindlimb development, we show that dynamic cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a6e213ebb7016b20a563d747a739dae
http://hdl.handle.net/11588/723498
http://hdl.handle.net/11588/723498