The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Autor: Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.

Externí odkaz: https://doaj.org/article/a25bb12eaf454851a551304c03cbab09

Genetic variation and RNA structure regulate microRNA biogenesis

Autor: Noemi Fernandez, Ross A. Cordiner, Robert S. Young, Nele Hug, Sara Macias, Javier F. Cáceres

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

A single variant in mir-30c-1 found in breast and gastric cancer patients leads to increased levels of mature miRNA. Here the authors show that this variant alters the RNA structure of this pri-miRNA leading to enhanced binding of SRSF3 and increased

Externí odkaz: https://doaj.org/article/7d860a2bd39d43cd92eaf8718314b299

The RNA Helicase DHX34 Activates NMD by Promoting a Transition from the Surveillance to the Decay-Inducing Complex

Autor: Nele Hug, Javier F. Cáceres

Publikováno v: Cell Reports, Vol 8, Iss 6, Pp 1845-1856 (2014)

Nonsense-mediated decay (NMD) is a surveillance mechanism that degrades aberrant mRNAs. A complex comprising SMG1, UPF1, and the translation termination factors eRF1 and eRF3 (SURF) is assembled in the vicinity of a premature termination codon. Subse

Externí odkaz: https://doaj.org/article/1847897c97da4823aac67f9e62110c65

Author response: Regulation of RUVBL1-RUVBL2 AAA-ATPases by the nonsense-mediated mRNA decay factor DHX34, as evidenced by Cryo-EM

Autor: Javier F. Cáceres, Andrés López-Perrote, Oscar Llorca, Carmen García-Martín, Marina Serna, Nele Hug, Jasminka Boskovic, Carlos F. Rodríguez, Rafael Fernandez-Leiro, Ana González-Corpas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a7ecd1d96fbab24b14905b21354dc3ca
https://doi.org/10.7554/elife.63042.sa2

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Autor: Aline Renneville, Judith C. W. Marsh, Carolyn Owen, Andrew Green, Rogier Mous, Jude Fitzgibbon, Andrew R. Hallahan, David Taussig, Jun Wang, Josep F. Nomdedeu, Ahad F. Al Seraihi, Mark Layton, Nikolas Pontikos, Doris Steinemann, Kim Reay, Vincent Plagnol, Rachel Protheroe, Tim Ripperger, Susanna Akiki, Joanne Mason, Upal Hossain, Henrik Hjorth-Hansen, Anne Uyttebroeck, Amanda J. Walne, Nigel H. Russell, Jenna Alnajar, Nele Hug, Claude Preudhomme, Jamie Cavenagh, Findlay Bewicke-Copley, Csaba Bödör, Kiran Tawana, Adrian Bloor, Cynthia L. Toze, Alicia Ellison, Paula Page, Gabriela Sciuccati, Inderjeet Dokal, Tom Vulliamy, John K. Wu, Jiri Pavlu, Peter Vandenberghe, Hemanth Tummala, Elspeth Payne, Michael L. Barnett, David T. Bowen, Brigitte Schlegelberger, Priyanka Mehta, Ana Rio-Machin, Alison Male, Shirleny Cardoso, Hannah Armes, Anand Saggar, Sarah Lawson, Nuria Pujol-Moix, Javier F. Cáceres, Pierre Fenaux, Sally Killick

Publikováno v: Nature Communications
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Rio-machin, A, Vulliamy, T, Hug, N, Walne, A, Tawana, K, Cardoso, S, Ellison, A, Pontikos, N, Wang, J, Tummala, H, Al Seraihi, A F, Alnajar, J, Bewicke-Copley, F, Armes, H, Barnett, M, Bloor, A, Bodor, C, Bowen, D, Fenaux, P, Green, A, Hallahan, A, Hjorth-Hansen, H, Hossain, U, Killick, S, Lawson, S, Layton, M, Male, A M, Marsh, J, Mehta, P, Mous, R, Nomdedeu, J F, Owen, C, Pavlu, J, Payne, E, Protheroe, R, Predhomme, C, Pujol-Moix, N, Renneville, A, Russell, N, Saggar, A, Sciuccati, G, Taussig, D, Toze, C, Uyttebroeck, A, Vandenberghe, P, Schlegelberger, B, Ripperger, T, Steinemann, D, Wu, J, Mason, J, Page, P, El Akiki, S, Reay, K, Cavenagh, J D, Plagnol, V, Caceres, J F, Fitzgibbon, J & Dokal, I 2020, ' The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants ', Nature Communications . https://doi.org/10.1038/s41467-020-14829-5
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we report a cohort of 86 acute myel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43441adab8bb9b0f13c4acc683573c5e
https://lirias.kuleuven.be/handle/123456789/652151