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Differences in Unfolded Protein Response Pathway Activation in the Lenses of Three Types of Cataracts
Yang, Jing, Zhou, Sheng, Gu, Jianjun, Wang, Yujuan, Guo, Minfei, Liu, Yizhi
Published in PloS one (19.06.2015)
Published in PloS one (19.06.2015)
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Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
Talebizadeh, Z, Lam, D Y, Theodoro, M F, Bittel, D C, Lushington, G H, Butler, M G
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
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Phosphorylation of a splice variant of collapsin response mediator protein 2 in the nucleus of tumour cells links cyclin dependent kinase-5 to oncogenesis
Grant, Nicola J., Coates, Philip J., Woods, Yvonne L., Bray, Susan E., Morrice, Nicholas A., Hastie, C. James, Lamont, Douglas J., Carey, Francis A., Sutherland, Calum
Published in BMC cancer (10.11.2015)
Published in BMC cancer (10.11.2015)
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A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome
Crotti, Lia, Lewandowska, Marzena A, Schwartz, Peter J, Insolia, Roberto, Pedrazzini, Matteo, Bussani, Erica, Dagradi, Federica, George, Jr, Alfred L, Pagani, Franco
Published in Heart rhythm (01.02.2009)
Published in Heart rhythm (01.02.2009)
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Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene
Farashi, Samaneh, Vakili, Shadi, Garous, Negin F., Ashki, Mehri, Forouzesh Pour, Fatemeh, Zeinali, Fatemeh, Rad, Fariba, Imanian, Hashem, Azarkeivan, Azita, Najmabadi, Hossein
Published in Hemoglobin (02.01.2016)
Published in Hemoglobin (02.01.2016)
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Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis
Straniero, Letizia, Soldà, Giulia, Costantino, Lucy, Seia, Manuela, Melotti, Paola, Colombo, Carla, Asselta, Rosanna, Duga, Stefano
Published in Journal of human genetics (01.12.2016)
Published in Journal of human genetics (01.12.2016)
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Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
Holla, Øystein L., Nakken, Sigve, Mattingsdal, Morten, Ranheim, Trine, Berge, Knut Erik, Defesche, Joep C., Leren, Trond P.
Published in Molecular genetics and metabolism (01.04.2009)
Published in Molecular genetics and metabolism (01.04.2009)
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Changes in Splicing Machinery Components Influence, Precede, and Early Predict the Development of Type 2 Diabetes: From the CORDIOPREV Study
Gahete, Manuel D., del Rio-Moreno, Mercedes, Camargo, Antonio, Alcala-Diaz, Juan F., Alors-Perez, Emilia, Delgado-Lista, Javier, Reyes, Oscar, Ventura, Sebastian, Perez-Martínez, Pablo, Castaño, Justo P., Lopez-Miranda, José, Luque, Raul M.
Published in EBioMedicine (01.11.2018)
Published in EBioMedicine (01.11.2018)
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A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome
Xie, Hua, Li, Xiaoyan, Peng, Jiping, Chen, Qian, Gao, ZhiJie, Song, Xiaozhen, Li, WeiYu, Xiao, Jianqiu, Li, Caihua, Zhang, Ting, Gusella, James F., Zhong, Jianmin, Chen, Xiaoli
Published in Scientific reports (23.03.2017)
Published in Scientific reports (23.03.2017)
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Distributions of Transposable Elements Reveal Hazardous Zones in Mammalian Introns
Zhang, Ying, Romanish, Mark T., Mager, Dixie L.
Published in PLoS computational biology (01.05.2011)
Published in PLoS computational biology (01.05.2011)
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Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns
Szafranski, Karol, Schindler, Stefanie, Taudien, Stefan, Hiller, Michael, Huse, Klaus, Jahn, Niels, Schreiber, Stefan, Backofen, Rolf, Platzer, Matthias
Published in Genome biology (01.08.2007)
Published in Genome biology (01.08.2007)
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A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?
Passamonti, Claudia, Petrelli, Cristina, Mei, Davide, Foschi, Nicoletta, Guerrini, Renzo, Provinciali, Leandro, Zamponi, Nelia
Published in Epilepsy & behavior (01.02.2015)
Published in Epilepsy & behavior (01.02.2015)
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Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans
Ortega-Cubero, S., Lorenzo-Betancor, O., Lorenzo, E., Alonso, E., Coria, F., Pastor, M.A., Fernández-Santiago, R., Martí, M.J., Ezquerra, M., Valldeoriola, F., Compta, Y., Tolosa, E., Agundez, J.A., Jiménez-Jiménez, F.J., Gironell, A., Clarimon, J., de Castro, P., García-Martín, E., Alonso-Navarro, H., Pastor, P.
Published in Neurobiology of aging (01.10.2013)
Published in Neurobiology of aging (01.10.2013)
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Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension
Maloney, James P., Stearman, Robert S., Bull, Todd M., Calabrese, David W., Tripp-Addison, Megan L., Wick, Marilee J., Broeckel, Ulrich, Robbins, Ivan M., Wheeler, Lisa A., Cogan, Joy D., Loyd, James E.
Published in American journal of physiology. Lung cellular and molecular physiology (15.03.2012)
Published in American journal of physiology. Lung cellular and molecular physiology (15.03.2012)
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Increased serotonin 2C receptor mRNA editing: a possible risk factor for suicide
Dracheva, S, Patel, N, Woo, D A, Marcus, S M, Siever, L J, Haroutunian, V
Published in Molecular psychiatry (01.11.2008)
Published in Molecular psychiatry (01.11.2008)
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Replication and Meta-Analysis of Common Gene Mutations in TTF1 and TTF2 with Papillary Thyroid Cancer
Gao, Yan, Chen, Fei, Niu, Shuli, Lin, Shiyu, Li, Suping
Published in Medicine (Baltimore) (01.09.2015)
Published in Medicine (Baltimore) (01.09.2015)
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