Recurrent non-coding U1-snRNA mutations drive cryptic splicing in Shh medulloblastoma
Recurrent non-coding U1-snRNA mutations drive cryptic splicing in Shh medulloblastoma
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Author / Creator
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 , Rao, Amulya A Nageswara , 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 C , 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
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Recurrent somatic single nucleotide variants (SNVs) in cancer are largely confined to protein-coding genes, and are rare in most paediatric cancers
. Here we report highly recurrent hotspot mutations of U1 spliceosomal small nuclear RNAs (snRNAs) in ~50% of Sonic hedgehog medulloblastomas (Shh-MB), which were not present across other medulloblas...
Alternative Titles
Full title
Recurrent non-coding 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
Rao, Amulya A Nageswara
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 C
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_hal_primary_oai_HAL_hal_03080231v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03080231v1
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/s41586-019-1650-0
