Zebrafish Tie-2 shares a redundant role with Tie-1 in heart development and regulates vessel integrity

Autor: Evisa Gjini, Liesbeth H. Hekking, Axel Küchler, Pipsa Saharinen, Erno Wienholds, Jan-Andries Post, Kari Alitalo, Stefan Schulte-Merker

Publikováno v: Disease Models & Mechanisms, Vol 4, Iss 1, Pp 57-66 (2011)

SUMMARY Tie-2 is a member of the receptor tyrosine kinase family and is required for vascular remodeling and maintenance of mammalian vessel integrity. A number of mutations in the human TIE2 gene have been identified in patients suffering from cutan

Externí odkaz: https://doaj.org/article/c56f5dcaa03c4fb590ddac7135b5b8ca

A stemness screen reveals C3orf54/INKA1 as a promoter of human leukemia stem cell latency

Autor: Sasan Zandi, Kerstin B. Kaufmann, Mike J. Tsay, Laura García-Prat, Stanley W.K. Ng, Chiara Pastrello, Mark D. Minden, John E. Dick, Gabriela Krivdova, Jean C.Y. Wang, Elvin Wagenblast, Eric R. Lechman, Stephanie Z. Xie, Qiang Liu, Peter van Galen, Igor Jurisica, Amanda Mitchell, Erno Wienholds, Shin-ichiro Takayanagi, Christian A. Cumbaa

Publikováno v: Blood. 133:2198-2211

There is a growing body of evidence that the molecular properties of leukemia stem cells (LSCs) are associated with clinical outcomes in acute myeloid leukemia (AML), and LSCs have been linked to therapy failure and relapse. Thus, a better understand

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::261572ea9298c8308e82a07da91900cb
https://doi.org/10.1182/blood-2018-10-881441

ATP7B Variant c.1934T>G p.Met645Arg Causes Wilson Disease by Promoting Exon 6 Skipping

Autor: Mark Sun, Frank W. Schmitges, Jiexin Gao, Brendan J. Frey, Marta Verby, Amit G. Deshwar, Solomon Grant, Ken Kron, Phil Fradkin, James J. Dowling, Johan E. S. Fransson, Matthew O’Hara, Carl Spickett, Boyko Kakaradov, Daniele Merico, Matthew Cahill, Shreshth Gandhi, Zvi Shalev, Erno Wienholds

Publikováno v: npj Genomic Medicine, Vol 5, Iss 1, Pp 1-7 (2020)
NPJ Genomic Medicine

Wilson disease is a recessive genetic disorder caused by pathogenic loss-of-function variants in the ATP7B gene. It is characterized by disrupted copper homeostasis resulting in liver disease and/or neurological abnormalities. The variant NM_000053.3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31aef81e415ed0b18a0b2bffd0453778

The unfolded protein response governs integrity of the haematopoietic stem-cell pool during stress

Autor: Bradly G. Wouters, Elisa Laurenti, Peter van Galen, Nathan Mbong, Tim J. Fitzmaurice, Erno Wienholds, Karin G. Hermans, John E. Dick, Antonija Kreso, Joseph E. Chambers, Jane C. Goodall, Stephanie Z. Xie, David G. Kent, Stefan J. Marciniak, Anthony R. Green, Kolja Eppert

The blood system is sustained by a pool of haematopoietic stem cells (HSCs) that are long-lived due to their capacity for self-renewal. A consequence of longevity is exposure to stress stimuli including reactive oxygen species (ROS), nutrient fluctua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::981e365b2d05641ae55c7b072eabcfaf

Deregulation of DUX4 and ERG in acute lymphoblastic leukemia

Autor: Selina M. Luger, Kerstin B. Kaufmann, Lei Wei, Robert S. Fulton, William E. Evans, Mignon L. Loh, Michelle L. Churchman, Sofia Bakogianni, Jun J. Yang, Chunxu Qu, Mary V. Relling, Ching-Hon Pui, Kelly McCastlain, Sheila A. Shurtleff, Cheryl L. Willman, Marcus L Valentine, Kerri Ochoa, Li Ding, Heather L. Mulder, Guido Marcucci, Cheng Cheng, Steven M. Kornblau, Deqing Pei, Janis Racevskis, Kristy Boggs, James R. Downing, Xiaotu Ma, Yunchao Chang, Debbie Payne-Turner, Yu Liu, Charles Lu, John Easton, John E. Dick, Bhavin Vadodaria, Wendy Stock, Shin-ichiro Takayanagi, Charles G. Mullighan, Michael N. Edmonson, Gang Wu, Scott Newman, Pankaj Gupta, Erno Wienholds, Krzysztof Mrózek, Matthew C. Foster, Elisabeth Paietta, Meenakshi Devidas, Elaine R. Mardis, Yongjin Li, Beisi Xu, Iannis Aifantis, James Dalton, Xiang Chen, Esmé Waanders, Clara D. Bloomfield, Stephen P. Hunger, Sima Jeha, I-Ming L. Chen, Lucinda Fulton, Kathryn G. Roberts, Guangchun Song, Susana C. Raimondi, Richard K. Wilson, Yanling Liu, Yashodhan Tabib, Ilaria Iacobucci, Ji Wen, Jingjing Wang, Jacob M. Rowe, Martin S. Tallman, Jessica Kohlschmidt, Michael Rusch, Hiroki Yoshihara, Jing Ma, Jinghui Zhang, Richard C. Harvey, Panagiotis Ntziachristos

Publikováno v: Nature Genetics, 48, 1481-1489
Nature Genetics, 48, 12, pp. 1481-1489

Chromosomal rearrangements deregulating hematopoietic transcription factors are common in acute lymphoblastic leukemia (ALL).1,2 Here, we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::514703f9fac3d9bb93f0e4fa82186fcc
https://doi.org/10.1038/ng.3691