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195 results for cryptic+exon

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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
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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ArticlesPeer ReviewedFull Text
Splicing repression is a major function of TDP-43 in motor neurons
Author / Creator:Donde, Aneesh ; Sun, Mingkuan ; Ling, Jonathan P. ; Braunstein, Kerstin E. ; Pang, Bo ; Wen, Xinrui ; Cheng, Xueying ; Chen, Liam ; Wong, Philip C.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2019-11, Vol.138 (5), p.813-826
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ArticlesPeer ReviewedFull Text
A motor neuron disease mouse model reveals a non-canonical profile of senescence biomarkers
Author / Creator:Torres, Pascual ; Anerillas, Carlos ; Ramírez-Núñez, Omar ; Fernàndez, Anna ; Encinas, Mario ; Povedano, Mònica ; Andrés-Benito, Pol ; Ferrer, Isidre ; Ayala, Victòria ; Pamplona, Reinald ; Portero-Otín, Manuel
Publisher:Cambridge: The Company of Biologists Ltd
Journal title:Disease models & mechanisms, 2022-08, Vol.15 (8)
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ArticlesPeer ReviewedFull Text
Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline–Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Incl...
Author / Creator:Fu, Ru-Huei ; Chen, Hui-Jye ; Hong, Syuan-Yu
Publisher:Basel: MDPI AG
Journal title:Cells (Basel, Switzerland), 2023-10, Vol.12 (20), p.2476
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ArticlesFull Text
TDP-43 represses cryptic exon inclusion in FTD/ALS gene UNC13A
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2021-04, p.4867
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ArticlesPeer ReviewedFull Text
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts
Author / Creator:Wijaya, Yogik Onky Silvana ; Niba, Emma Tabe Eko ; Nishio, Hisahide ; Okamoto, Kentaro ; Awano, Hiroyuki ; Saito, Toshio ; Takeshima, Yasuhiro ; Shinohara, Masakazu
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-04, Vol.13 (4), p.685
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ReportsFull Text
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
Journal title:Journal of clinical laboratory analysis, 2023, Vol.37 (21-22), p.e24987-e24987
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ArticlesPeer ReviewedFull Text
A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations
Author / Creator:Keegan, Niall Patrick ; Fletcher, Sue
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-01, Vol.10 (1), p.e1840-n/a
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ArticlesFull Text
Study Results from Emory University Broaden Understanding of Life Science (Cryptic Exon Inclusion Is a Molecular Signature of Late-nc In Aging Brains)
Publisher:NewsRX LLC
Journal title:Obesity, fitness, & wellness week, 2024-06, p.5310
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ArticlesFull Text
TDP-43 represses cryptic exon inclusion in FTD/ALS gene UNC13A
Author / Creator:X Rosa Ma ; Prudencio, Mercedes ; Koike, Yuka ; Vatsavayai, Sarat C ; Garam Kim ; Harbinski, Fred ; Rodriguez, Caitlin M ; H Broder Schmidt ; Cummings, Beryl B ; Wyatt, David W ; Kurylo, Katherine ; Miller, Georgiana ; Mekhoubad, Shila ; Sallee, Nathan ; Jansen-West, Karen ; Cook, Casey ; Pickles, Sarah ; Oskarsson, Bjorn ; Graff-Radford, Neil R ; Boeve, Bradley F ; Knopman, David S ; Petersen, Ronald C ; Dickson, Dennis W ; Green, Eric M ; Seeley, William W ; Petrucelli, Leonard ; Gitler, Aaron D
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2021-04
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Newsletter articlesFull Text
Molecular Subtyping Based on Hippocampal Cryptic Exon Burden Reveals Proteome-wide Changes Associated with TDP-43 Pathology across the Spectrum of LATE and Alzheimer's Disease
Publisher:NewsRX LLC
Journal title:Health & Medicine Week, 2025, p.2229
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Showing 21 to 40 of 195 results

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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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Splicing repression is a major function of TDP-43 in motor neurons

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A motor neuron disease mouse model reveals a non-canonical profile of senescence biomarkers

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Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline–Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Incl...

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

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High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts

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

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A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations

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Study Results from Emory University Broaden Understanding of Life Science (Cryptic Exon Inclusion Is a Molecular Signature of Late-nc In Aging Brains)

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

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Molecular Subtyping Based on Hippocampal Cryptic Exon Burden Reveals Proteome-wide Changes Associated with TDP-43 Pathology across the Spectrum of LATE and Alzheimer's Disease

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