Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma
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Suzuki, Hiromichi , Kumar, Sachin A. , Shuai, Shimin , Diaz-Navarro, Ander , Gutierrez-Fernandez, Ana , De Antonellis, Pasqualino , Cavalli, Florence M. G. , Juraschka, Kyle , Farooq, Hamza , Shibahara, Ichiyo , Vladoiu, Maria C. , Zhang, Jiao , Abeysundara, Namal , Przelicki, David , Skowron, Patryk , Gauer, Nicole , Luu, Betty , Daniels, Craig , Wu, Xiaochong , Forget, Antoine , Momin, Ali , Wang, Jun , Dong, Weifan , Kim, Seung-Ki , Grajkowska, Wieslawa A. , Jouvet, Anne , Fèvre-Montange, Michelle , Garrè, Maria Luisa , Nageswara Rao, Amulya A. , Giannini, Caterina , Kros, Johan M , French, Pim J. , Jabado, Nada , Ng, Ho-Keung , Poon, Wai Sang , Eberhart, Charles G. , Pollack, Ian F. , Olson, James M. , Weiss, William A. , Kumabe, Toshihiro , López-Aguilar, Enrique , Lach, Boleslaw , Massimino, Maura , Van Meir, Erwin G. , Rubin, Joshua B. , Vibhakar, Rajeev , Chambless, Lola B. , Kijima, Noriyuki , Klekner, Almos , Bognár, László , Chan, Jennifer A. , Faria, Claudia , Ragoussis, Jiannis , Pfister, Stefan M. , Goldenberg, Anna , Wechsler-Reya, Robert J. , Bailey, Swneke D. , Garzia, Livia , Morrissy, A Sorana , Marra, Marco A. , Huang, Xi , Malkin, David , Ayrault, Olivier , Ramaswamy, Vijay , Puente, Xose S. , Calarco, John A. , Stein, Lincoln and Taylor, Michael D.
Publisher
London: Springer Nature
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Language
English
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Publisher
London: Springer Nature
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© The Author(s), under exclusive licence to Springer Nature Limited 2019
In cancer, recurrent somatic single-nucleotide variants-which are rare in most paediatric cancers-are confined largely to protein-coding genes1-3. Here we report highly recurrent hotspot mutations (r.3A>G) of U1 spliceosomal small nuclear RNAs (snRNAs) in about 50% of Sonic...
Alternative Titles
Full title
Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma
Authors, Artists and Contributors
Author / Creator
Kumar, Sachin A.
Shuai, Shimin
Diaz-Navarro, Ander
Gutierrez-Fernandez, Ana
De Antonellis, Pasqualino
Cavalli, Florence M. G.
Juraschka, Kyle
Farooq, Hamza
Shibahara, Ichiyo
Vladoiu, Maria C.
Zhang, Jiao
Abeysundara, Namal
Przelicki, David
Skowron, Patryk
Gauer, Nicole
Luu, Betty
Daniels, Craig
Wu, Xiaochong
Forget, Antoine
Momin, Ali
Wang, Jun
Dong, Weifan
Kim, Seung-Ki
Grajkowska, Wieslawa A.
Jouvet, Anne
Fèvre-Montange, Michelle
Garrè, Maria Luisa
Nageswara Rao, Amulya A.
Giannini, Caterina
Kros, Johan M
French, Pim J.
Jabado, Nada
Ng, Ho-Keung
Poon, Wai Sang
Eberhart, Charles G.
Pollack, Ian F.
Olson, James M.
Weiss, William A.
Kumabe, Toshihiro
López-Aguilar, Enrique
Lach, Boleslaw
Massimino, Maura
Van Meir, Erwin G.
Rubin, Joshua B.
Vibhakar, Rajeev
Chambless, Lola B.
Kijima, Noriyuki
Klekner, Almos
Bognár, László
Chan, Jennifer A.
Faria, Claudia
Ragoussis, Jiannis
Pfister, Stefan M.
Goldenberg, Anna
Wechsler-Reya, Robert J.
Bailey, Swneke D.
Garzia, Livia
Morrissy, A Sorana
Marra, Marco A.
Huang, Xi
Malkin, David
Ayrault, Olivier
Ramaswamy, Vijay
Puente, Xose S.
Calarco, John A.
Stein, Lincoln
Taylor, Michael D.
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2310673617
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2310673617
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/s41586-019-1650-0
