Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

Autor: J.S. Copier, M. Bootsma, C. Ng, A.A.M. Wilde, R.A. Bertels, H. Bikker, I. Christiaans, S.N. van der Crabben, J.A. Hol, T.T. Koopmann, J. Knijnenburg, A.A.J. Lommerse, J.J. van der Smagt, C.R. Bezzina, J.I. Vandenberg, A.O. Verkerk, D.Q.C.M. Barge-Schaapveld, E.M. Lodder

BackgroundVariants in KCNH2, encoding the hERG channel which is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to Long QT Syndrome type 2 (LQTS2). We identified eight index patients with a new varian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d8f6266234484eac49e41c280af840c7
https://doi.org/10.1101/2022.08.05.502917

C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation

Autor: B.A. van der Reijden, Joost H.A. Martens, Nilofar Sharifi, Hendrik G. Stunnenberg, Eva M. Janssen-Megens, Joop H. Jansen, Christian M. Zwaan, Saskia M. Bergevoet, Bowon Kim, Mathijs A. Sanders, J Knijnenburg, Anna E. Marneth, Peter J. M. Valk, Maarten Fornerod, A. S. Al Hinai, T C J M Arentsen-Peters, Torsten Haferlach, Jorren Kuster, E C G Stoetman, Marie-Laure Yaspo, Niccolò Tesi, M M van den Heuvel-Eibrink, Koen H.M. Prange

Publikováno v: Leukemia : the Journal of Normal and Malignant Hemopoiese ; Official Journal of the Leukemia Research Fund U.K.
Leukemia, 32(3), 828-836. Nature Publishing Group
Leukemia, 32, pp. 828-836
Leukemia, 32, 828-836. Macmillan Publishers Limited, part of Springer Nature.
Leukemia, 32(3), 828-836

Overexpression of the BRE (brain and reproductive organ-expressed) gene defines a distinct pediatric and adult acute myeloid leukemia (AML) subgroup. Here we identify a promoter enriched for active chromatin marks in BRE intron 4 causing strong biall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0991d6d688f32e57394edc14b63b95c
https://doi.org/10.1038/leu.2017.280

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Clinical Genetics

Autor: A. M. W. van den Ouweland, R. van Minkelen, J. Knijnenburg, M. van Slegtenhorst, L. H. Hoefsloot

Publikováno v: Molecular Diagnostics ISBN: 9789811045103

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bf35e73da9a36a0ab837fe33e000d967
https://doi.org/10.1007/978-981-10-4511-0_8

Contents Vol. 123, 2008

Autor: M. Lanktree, C. Yau, C. Fawcett, W. Gu, S.J. Hebbring, C. Harvard, J.T. Jeon, J.C. Edberg, G. Füst, B.H. Rovin, H.M. Lachman, J.R. Vermeesch, S.W. Scherer, J.M. Kidd, R.A. Hegele, A. Tsalenko, G.H. Perry, S.P. Shah, H.H. Thygesen, M.E. Kalf, T. Nakajima, A.R. Brothman, G. Kaur, A.J. Sharp, R.H.A.M. Vossen, K. Buysse, R. Venkatachalam, K. De Preter, Á. Szilágyi, K.J. Kitzmiller, B. Poppe, X. Liu, A. Kimura, E.E. Eichler, Y. Satoh, A.P. Monaco, M.E.S. Lewis, A.C. Lionel, David Neil Cooper, C. Hopkins, M.J.L. Ligtenberg, R.F. Wintle, Jaimie Kelley, F. Hannes, D. FitzPatrick, M.A. Jobling, C.A. Ruivenkamp, C. Ruivenkamp, T.J. Aitman, C. Kumps, M. Kusenda, Caileigh Marshall, R.G. Walters, B.P. Tsao, T. Ptacek, F.H. Sharkey, C. Férec, C. Le Maréchal, A. Geurts van Kessel, J. Ragoussis, N. Takahashi, A J de Smith, E.K. Chung, M. Nei, L. Winchester, L. Armengol, H. Auer, M.H.B. Breuning, M. Kriek, J.T. den Dunnen, H. Katayama, E. Masson, E. Maher, N. Hoogerbrugge, C.Y. Yu, G. Froyen, B. Zhou, H.N. Nagaraja, N. Mehra, Y.L. Wu, N. Riendeau, R. Mendoza-Londono, J.J.A. Holden, E. Aston, W. Al-Sukhni, D.F. Newbury, C.C. Holmes, S. Gallinger, X. Li, Hildegard Kehrer-Sawatzki, G. Peters, P. Tsang, J.S. Beckmann, S. Tchatchou, H.J. Tanke, J.H. Lee, T. Azam, M. Nozawa, A.M. Moyer, Y. Yang, M. Kodaira, X. Estivill, A.I. Blakemore, D.J. Birmingham, P. Froguel, H. Riethman, J. Vandewalle, F. Speleman, L. Bruhn, L.A. Hebert, I. Johansson, M. Ingelman-Sundberg, R.P. Kuiper, Y. Qiao, P. Marynen, S.J. White, S.L. Savelli, B. Menten, A.J. Notini, J. Knijnenburg, E.J. Hollox, S. Goobie, D.N. Cooper, P. Bayrak-Toydemir, S.E. Antonarakis, G. Cutler, S. Mitchell, E. Rajcan-Separovic, J.A. Bailey, E. Aten, M. Bauters, A. Weuts, D.K. Bailey, H. Whitby, J.M. Chen, N.S. den Hollander, K. Chong, M. Shago, J.M. Craig, J. Sebat, P.D. Kassner, R.M. Weinshilboum, R. Rabionet, K. Szuhai, J.R. Lupski, T.J. Vyse, H. Van Esch, H. Kehrer-Sawatzki, J. Nevelsteen, B. Burwinkel, M. Fanciulli

Publikováno v: Cytogenetic and Genome Research. 123:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f4e4d8bbf9cba28bce6a3c1fb08ed7b3
https://doi.org/10.1159/000209259