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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
Author / Creator:Ma, X. Rosa ; Prudencio, Mercedes ; Koike, Yuka ; Vatsavayai, Sarat C. ; Kim, Garam ; Harbinski, Fred ; Briner, Adam ; Rodriguez, Caitlin M. ; Guo, Caiwei ; Akiyama, Tetsuya ; Schmidt, H. Broder ; Cummings, Beryl B. ; Wyatt, David W. ; Kurylo, Katherine ; Miller, Georgiana ; Mekhoubad, Shila ; Sallee, Nathan ; Mekonnen, Gemechu ; Ganser, Laura ; Rubien, Jack D. ; Jansen-West, Karen ; Cook, Casey N. ; Pickles, Sarah ; Oskarsson, Björn ; Graff-Radford, Neill R. ; Boeve, Bradley F. ; Knopman, David S. ; Petersen, Ronald C. ; Dickson, Dennis W. ; Shorter, James ; Myong, Sua ; Green, Eric M. ; Seeley, William W. ; Petrucelli, Leonard ; Gitler, Aaron D.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2022-03, Vol.603 (7899), p.124-130
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Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
Author / Creator:Buffet, Alexandre ; Calsina, Bruna ; Flores, Shahida ; Giraud, Sophie ; Lenglet, Marion ; Romanet, Pauline ; Deflorenne, Elisa ; Aller, Javier ; Bourdeau, Isabelle ; Bressac-de Paillerets, Brigitte ; Calatayud, María ; Dehais, Caroline ; De Mones Del Pujol, Erwan ; Elenkova, Atanaska ; Herman, Philippe ; Kamenický, Peter ; Lejeune, Sophie ; Sadoul, Jean Louis ; Barlier, Anne ; Richard, Stephane ; Favier, Judith ; Burnichon, Nelly ; Gardie, Betty ; Dahia, Patricia L ; Robledo, Mercedes ; Gimenez-Roqueplo, Anne-Paule
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2020-11, Vol.57 (11), p.752-759
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Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains
Author / Creator:Chung, Mingee ; Carter, E. Kathleen ; Veire, Austin M. ; Dammer, Eric B. ; Chang, Jianjun ; Duong, Duc M. ; Raj, Nisha ; Bassell, Gary J. ; Glass, Jonathan D. ; Gendron, Tania F. ; Nelson, Peter T. ; Levey, Allan I. ; Seyfried, Nicholas T. ; McEachin, Zachary T.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2024-06, Vol.147 (1), p.29, Article 29
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Cryptic exon incorporation occurs in Alzheimer’s brain lacking TDP-43 inclusion but exhibiting nuclear clearance of TDP-43
Author / Creator:Sun, Mingkuan ; Bell, William ; LaClair, Katherine D. ; Ling, Jonathan P. ; Han, Heather ; Kageyama, Yusuke ; Pletnikova, Olga ; Troncoso, Juan C. ; Wong, Philip C. ; Chen, Liam L.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2017-06, Vol.133 (6), p.923-931
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TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A
Author / Creator:Koike, Yuka ; Pickles, Sarah ; Estades Ayuso, Virginia ; Jansen-West, Karen ; Qi, Yue A. ; Li, Ziyi ; Daughrity, Lillian M. ; Yue, Mei ; Zhang, Yong-Jie ; Cook, Casey N. ; Dickson, Dennis W. ; Ward, Michael ; Petrucelli, Leonard ; Prudencio, Mercedes
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2023-03, Vol.21 (3), p.e3002028-e3002028
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Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum
Author / Creator:Gittings, Lauren M. ; Alsop, Eric B. ; Antone, Jerry ; Singer, Mo ; Whitsett, Timothy G. ; Sattler, Rita ; Van Keuren-Jensen, Kendall
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2023-09, Vol.146 (3), p.433-450
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Alternatively spliced ELAVL3 cryptic exon 4a causes ELAVL3 downregulation in ALS TDP-43 proteinopathy
Author / Creator:Costantino, Isabel ; Meng, Alex ; Ravits, John
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2024-06, Vol.147 (1), p.93, Article 93
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Cryptic exon activation causes dystrophinopathy in two Chinese families
Author / Creator:Jin, Ming ; Li, Jin-Jing ; Xu, Guo-Rong ; Wang, Ning ; Wang, Zhi-Qiang
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2020-07, Vol.28 (7), p.947-955
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Cryptic exon activation caused by a novel deep‐intronic splice‐altering variant in Becker muscular dystrophy
Author / Creator:Xie, Zhiying ; Lu, Yunlong ; Liu, Chang ; Sun, Chengyue ; Yu, Jiaxi ; Ling, Chen ; Luan, Xinghua ; Wang, Wei ; Wang, Li ; Liang, Yanhong ; Luo, Qianbo ; Meng, Lingchao ; Wang, Zhaoxia ; Yuan, Yun
Publisher:United States: John Wiley & Sons, Inc
Journal title:Journal of clinical laboratory analysis, 2023-11, Vol.37 (21-22), p.e24987-n/a
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Correction: TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A
Author / Creator:Koike, Yuka ; Pickles, Sarah ; Ayuso, Virginia Estades ; Jansen-West, Karen ; Qi, Yue A. ; Li, Ziyi ; Daughrity, Lillian M. ; Yue, Mei ; Zhang, Yong-Jie ; Cook, Casey N. ; Dickson, Dennis W. ; Ward, Michael ; Petrucelli, Leonard ; Prudencio, Mercedes
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2023-07, Vol.21 (7), p.e3002228-e3002228
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A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
Author / Creator:Hiraide, Takuya ; Shimizu, Kenji ; Okumura, Yoshinori ; Miyamoto, Sachiko ; Nakashima, Mitsuko ; Ogata, Tsutomu ; Saitsu, Hirotomo
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-07, Vol.68 (7), p.499-505
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TDP-43 maximizes nerve conduction velocity by repressing a cryptic exon for paranodal junction assembly in Schwann cells
Author / Creator:Chang, Kae-Jiun ; Agrawal, Ira ; Vainshtein, Anna ; Ho, Wan Yun ; Xin, Wendy ; Tucker-Kellogg, Greg ; Susuki, Keiichiro ; Peles, Elior ; Ling, Shuo-Chien ; Chan, Jonah R
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2021-03, Vol.10
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Cryptic exon activation in SLC12A3 in Gitelman syndrome
Author / Creator:Nozu, Kandai ; Nozu, Yoshimi ; Nakanishi, Keita ; Konomoto, Takao ; Horinouchi, Tomoko ; Shono, Akemi ; Morisada, Naoya ; Minamikawa, Shogo ; Yamamura, Tomohiko ; Fujimura, Junya ; Nakanishi, Koichi ; Ninchoji, Takeshi ; Kaito, Hiroshi ; Morioka, Ichiro ; Taniguchi-Ikeda, Mariko ; Vorechovsky, Igor ; Iijima, Kazumoto
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-02, Vol.62 (2), p.335-337
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Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases
Author / Creator:Rodrigues, Catarina Dantas ; Pombal, Rita ; Pereira, Janet ; Relvas, Luís ; Cunha, Elizabete ; Almeida, José Carlos ; Maia, Tabita ; Silva, Helena ; Bento, Celeste
Publisher:United States: John Wiley & Sons, Inc
Journal title:EJHaem, 2022-08, Vol.3 (3), p.989-991
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Polymorphism in the Alternative Donor Site of the Cryptic Exon of LHCGR: Functional Consequences and Associations with Testosterone Level
Author / Creator:Liu, Wei ; Han, Bing ; Zhu, Wenjiao ; Cheng, Tong ; Fan, Mengxia ; Wu, Jiajun ; Yang, Ying ; Zhu, Hui ; Si, Jiqiang ; Lyu, Qifeng ; Chai, Weiran ; Zhao, Shuangxia ; Song, Huaidong ; Kuang, Yanping ; Qiao, Jie
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-04, Vol.7 (1), p.45699-45699, Article 45699
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Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness
Author / Creator:Garanto, Alejandro ; Duijkers, Lonneke ; Collin, Rob
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2015-03, Vol.16 (3), p.5285-5298
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Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon
Author / Creator:van den Hurk, José A. J. M. ; van de Pol, Dorien J. R. ; Wissinger, Bernd ; van Driel, Marc A. ; Hoefsloot, Lies H. ; de Wijs, Ilse J. ; van den Born, L. Ingeborgh ; Heckenlively, John R. ; Brunner, Han G. ; Zrenner, Eberhart ; Ropers, Hans-Hilger ; Cremers, Frans P. M.
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2003-08, Vol.113 (3), p.268-275
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Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism
Author / Creator:Kossack, Nina ; Simoni, Manuela ; Richter-Unruh, Annette ; Themmen, Axel P. N ; Gromoll, Jörg
Publisher:United States: Public Library of Science
Journal title:PLoS medicine, 2008-04, Vol.5 (4), p.e88-e88
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Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
Author / Creator:Yoshimoto, Satomi ; Harahap, Nur Imma Fatimah ; Hamamura, Yuko ; Ar Rochmah, Mawaddah ; Shima, Ai ; Morisada, Naoya ; Shinohara, Masakazu ; Saito, Toshio ; Saito, Kayoko ; Lai, Poh San ; Matsuo, Masafumi ; Awano, Hiroyuki ; Morioka, Ichiro ; Iijima, Kazumoto ; Nishio, Hisahide
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2016-12, Vol.3 (1), p.16040-16040, Article 16040
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A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene
Author / Creator:Tran, Van Khanh ; Zhang, Zhujun ; Yagi, Mariko ; Nishiyama, Atsushi ; Habara, Yasuaki ; Takeshima, Yasuhiro ; Matsuo, Masafumi
Publisher:Tokyo: Springer Japan
Journal title:Journal of human genetics, 2005-09, Vol.50 (8), p.425-433
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Showing 1 to 20 of 195 results

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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

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Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma

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Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains

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Cryptic exon incorporation occurs in Alzheimer’s brain lacking TDP-43 inclusion but exhibiting nuclear clearance of TDP-43

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TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A

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Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum

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Alternatively spliced ELAVL3 cryptic exon 4a causes ELAVL3 downregulation in ALS TDP-43 proteinopathy

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Cryptic exon activation causes dystrophinopathy in two Chinese families

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Cryptic exon activation caused by a novel deep‐intronic splice‐altering variant in Becker muscular dystrophy

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Correction: TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A

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A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

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TDP-43 maximizes nerve conduction velocity by repressing a cryptic exon for paranodal junction assembly in Schwann cells

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Cryptic exon activation in SLC12A3 in Gitelman syndrome

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Variants in the new E1ʹ cryptic exon of the VHL gene associated with congenital erythrocytosis—Description of three cases

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Polymorphism in the Alternative Donor Site of the Cryptic Exon of LHCGR: Functional Consequences and Associations with Testosterone Level

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Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness

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Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

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Mutations in a Novel, Cryptic Exon of the Luteinizing Hormone/Chorionic Gonadotropin Receptor Gene Cause Male Pseudohermaphroditism

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Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2

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A novel cryptic exon identified in the 3′ region of intron 2 of the human dystrophin gene

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