PMC Links for Nucleotide (Select 1677703455) - PMC

Select item 66125151.

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

Boris Fichtman, Tamar Harel, Nitzan Biran, Fadia Zagairy, Carolyn D. Applegate, Yuval Salzberg, Tal Gilboa, Somaya Salah, Avraham Shaag, Natalia Simanovsky, Houriya Ayoubieh, Nara Sobreira, Giuseppe Punzi, Ciro Leonardo Pierri, Ada Hamosh, Orly Elpeleg, Amnon Harel, Simon Edvardson

Am J Hum Genet. 2019 Jul 3; 105(1): 48–64. Published online 2019 Jun 6. doi: 10.1016/j.ajhg.2019.05.003

PMCID:: PMC6612515

Abstract Article PDF–3.4M

Select item 63078182.

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H. Kehlenbach, Ralf Ficner, Nigel G. Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog

PLoS Genet. 2018 Dec; 14(12): e1007845. Published online 2018 Dec 13. doi: 10.1371/journal.pgen.1007845

PMCID:: PMC6307818

Abstract Article PDF–3.9M

Select item 60978763.

Cooperative Enhancer Activation by TLX1 and STAT5 Drives Development of NUP214-ABL1/TLX1-Positive T Cell Acute Lymphoblastic Leukemia

Marlies Vanden Bempt, Sofie Demeyer, Michaël Broux, Jolien De Bie, Simon Bornschein, Nicole Mentens, Roel Vandepoel, Ellen Geerdens, Enrico Radaelli, Beat C. Bornhauser, Andreas E. Kulozik, Jules P. Meijerink, Jean-Pierre Bourquin, Charles E. de Bock, Jan Cools

Cancer Cell. 2018 Aug 13; 34(2): 271–285.e7. doi: 10.1016/j.ccell.2018.07.007

PMCID:: PMC6097876

Abstract Article

Select item 59742464.

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance

Matthieu Egloff, Lam-Son Nguyen, Karine Siquier-Pernet, Valérie Cormier-Daire, Geneviève Baujat, Tania Attié-Bitach, Christine Bole-Feysot, Patrick Nitschke, Michel Vekemans, Laurence Colleaux, Valérie Malan

Eur J Hum Genet. 2018 Jun; 26(6): 912–918. Published online 2018 Feb 26. doi: 10.1038/s41431-018-0124-4