Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Fadi Hariri"'
Autor:
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation
Externí odkaz:
https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a029651
Autor:
Ni Li, David C. Johnson, Niels Weinhold, Scott Kimber, Sara E. Dobbins, Jonathan S. Mitchell, Ben Kinnersley, Amit Sud, Philip J. Law, Giulia Orlando, Matthew Scales, Christopher P. Wardell, Asta Försti, Phuc H. Hoang, Molly Went, Amy Holroyd, Fadi Hariri, Tomi Pastinen, Tobias Meissner, Hartmut Goldschmidt, Kari Hemminki, Gareth J. Morgan, Martin Kaiser, Richard S. Houlston
Publikováno v:
Cell Reports, Vol 20, Iss 11, Pp 2556-2564 (2017)
Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by which it influences tumorige
Externí odkaz:
https://doaj.org/article/c2762e75e6454ba9adf91b3a523214c2
Autor:
Jean-Louis Guéant, Céline Chéry, Abderrahim Oussalah, Javad Nadaf, David Coelho, Thomas Josse, Justine Flayac, Aurélie Robert, Isabelle Koscinski, Isabelle Gastin, Pierre Filhine-Tresarrieu, Mihaela Pupavac, Alison Brebner, David Watkins, Tomi Pastinen, Alexandre Montpetit, Fadi Hariri, David Tregouët, Benjamin A Raby, Wendy K. Chung, Pierre-Emmanuel Morange, D. Sean Froese, Matthias R. Baumgartner, Jean-François Benoist, Can Ficicioglu, Virginie Marchand, Yuri Motorin, Chrystèle Bonnemains, François Feillet, Jacek Majewski, David S. Rosenblatt
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in both the PDF and HTML versions of the A
Externí odkaz:
https://doaj.org/article/3783968287494c3eab68abe2d97288a6
Autor:
Sara E. Dobbins, Cameron S. Osborne, Jussi Taipale, Giulia Orlando, Richard S. Houlston, Philip J. Law, Tomi Pastinen, Kevin Litchfield, Alex J. Cornish, Daniel Chubb, Peter Broderick, Fadi Hariri
Publikováno v:
Nature Genetics. 50:1375-1380
Efforts are being directed to systematically analyze the non-coding regions of the genome for cancer-driving mutations1-6. cis-regulatory elements (CREs) represent a highly enriched subset of the non-coding regions of the genome in which to search fo
Autor:
Ben Kinnersley, Phuc H. Hoang, Fadi Hariri, Philip J. Law, Ni L Li, Matthew Scales, Tomi Pastinen, Martin Kaiser, Sara E. Dobbins, Scott Kimber, Christopher P. Wardell, David W. Johnson, Giulia Orlando, Amit Sud, Molly Went, Hartmut Goldschmidt, Niels Weinhold, Tobias Meissner, Kari Hemminki, Richard S. Houlston, Gareth J. Morgan, Amy Holroyd, Asta Försti, Jonathan S. Mitchell
Publikováno v:
Cell Reports
Cell Reports, Vol 20, Iss 11, Pp 2556-2564 (2017)
Cell Reports, Vol 20, Iss 11, Pp 2556-2564 (2017)
Summary Multiple myeloma (MM) is a malignancy of plasma cells. Genome-wide association studies have shown that variation at 5q15 influences MM risk. Here, we have sought to decipher the causal variant at 5q15 and the mechanism by which it influences
Autor:
François Feillet, Matthias R. Baumgartner, Justine Flayac, Jacek Majewski, Yuri Motorin, Mihaela Pupavac, Fadi Hariri, Abderrahim Oussalah, Pierre-Emmanuel Morange, Tomi Pastinen, Alexandre Montpetit, David S. Rosenblatt, Jean-François Benoist, Benjamin A. Raby, D. Sean Froese, Chrystèle Bonnemains, Aurélie Robert, Thomas Josse, Wendy K. Chung, Javad Nadaf, Jean-Louis Guéant, Alison Brebner, Can Ficicioglu, Isabelle Koscinski, David Watkins, Céline Chéry, I Gastin, Pierre Filhine-Tresarrieu, David Coelho, Virginie Marchand, David-Alexandre Trégouët
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)
Nature Communications
Nature Communications
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in both the PDF and HTML versions of the A
Autor:
Amit, Sud, Hauke, Thomsen, Giulia, Orlando, Asta, Försti, Philip J, Law, Peter, Broderick, Rosie, Cooke, Fadi, Hariri, Tomi, Pastinen, Douglas F, Easton, Paul D P, Pharoah, Alison M, Dunning, Julian, Peto, Federico, Canzian, Rosalind, Eeles, ZSofia, Kote-Jarai, Kenneth, Muir, Nora, Pashayan, Daniele, Campa, Per, Hoffmann, Markus M, Nöthen, Karl-Heinz, Jöckel, Elke Pogge, von Strandmann, Anthony J, Swerdlow, Andreas, Engert, Nick, Orr, Kari, Hemminki, Richard S, Houlston
To further our understanding of inherited susceptibility to Hodgkin lymphoma (HL), we performed a meta-analysis of 7 genome-wide association studies totaling 5325 HL cases and 22 423 control patients. We identify 5 new HL risk loci at 6p21.31 (rs6497
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c06540578006ad0b19a349a01b91c817
http://hdl.handle.net/11568/955372
http://hdl.handle.net/11568/955372
Autor:
Fadi Hariri, Konstantin Khetchoumian, Jacques Drouin, Aurelio Balsalobre, Tomi Pastinen, Alexandre Mayran, Yves Gauthier
Publikováno v:
Nature genetics. 50(2)
Pioneer transcription factors establish new cell-fate competence by triggering chromatin remodeling. However, many features of pioneer action, such as their kinetics and stability, remain poorly defined. Here, we show that Pax7, by opening a unique r
Autor:
Fadi Bitar, Georges Nemer, Ghassan Dbaibo, Amina Kamar, Fadi Hariri, Raed Azzam, Nehme El-Hachem
Publikováno v:
DNA and Cell Biology. 32:310-319
We have previously shown that ceramide, a proapoptotic molecule decreases in the mouse heart as it adapts to hypoxia. We have also shown that its precursor, dihydroceramide, accumulates with hypoxia. This implicates the enzyme dihydroceramide desatur
Autor:
Torsten Holm Nielsen, Fadi Hariri, Biljana Culjkovic-Kraljacic, Katherine L. B. Borden, Koren K. Mann, Meztli Arguello, John Hiscott, Laurent Volpon
Publikováno v:
Leukemia. 27:2047-2055
The eukaryotic translation initiation factor eIF4E is a potent oncogene elevated in many cancers, including the M4 and M5 subtypes of acute myeloid leukemia (AML). Although eIF4E RNA levels are elevated 3- to 10-fold in M4/M5 AML, the molecular under