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A Novel Splice Mutation in PLS3 Causes X‐linked Early Onset Low‐Turnover Osteoporosis
Laine, Christine M, Wessman, Maija, Toiviainen‐Salo, Sanna, Kaunisto, Mari A, Mäyränpää, Mervi K, Laine, Tero, Pekkinen, Minna, Kröger, Heikki, Välimäki, Ville‐Valtteri, Välimäki, Matti J, Lehesjoki, Anna‐Elina, Mäkitie, Outi
Published in Journal of bone and mineral research (01.03.2015)
Published in Journal of bone and mineral research (01.03.2015)
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Contrasting changes in DRD1 and DRD2 splice variant expression in schizophrenia and affective disorders, and associations with SNPs in postmortem brain
Kaalund, S S, Newburn, E N, Ye, T, Tao, R, Li, C, Deep-Soboslay, A, Herman, M M, Hyde, T M, Weinberger, D R, Lipska, B K, Kleinman, J E
Published in Molecular psychiatry (01.12.2014)
Published in Molecular psychiatry (01.12.2014)
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Splicing Factor Transcript Abundance in Saliva as a Diagnostic Tool for Breast Cancer
Bentata, Mercedes, Morgenstern, Guy, Nevo, Yuval, Kay, Gillian, Granit Mizrahi, Avital, Temper, Mark, Maimon, Ofra, Monas, Liza, Basheer, Reham, Ben-Hur, Asa, Peretz, Tamar, Salton, Maayan
Published in Genes (03.08.2020)
Published in Genes (03.08.2020)
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Characterization of alternatively spliced transcript variants of glycophorin A and glycophorin B genes in Chinese blood donors
Liang, Yanlian, Ren, Jianwei, Zhong, Fuling, Hong, Wenxu, Su, Yuqing, Wu, Fan, Liang, Shuang, Liu, Jun, Fang, Shuanghua, Liang, Yanwen, Fan, Xiuchu, Lin, Jiansuo, Liu, Yi, Feng, Bo, Xu, Yunping
Published in Vox sanguinis (01.05.2022)
Published in Vox sanguinis (01.05.2022)
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Morphological, Biochemical, and Functional Study of Viral Replication Compartments Isolated from Adenovirus-Infected Cells
Hidalgo, Paloma, Anzures, Lourdes, Hernández-Mendoza, Armando, Guerrero, Adán, Wood, Christopher D., Valdés, Margarita, Dobner, Thomas, Gonzalez, Ramón A.
Published in Journal of virology (01.04.2016)
Published in Journal of virology (01.04.2016)
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Distinct Patterns of Expression and Evolution of Intronless and Intron-Containing Mammalian Genes
Shabalina, Svetlana A., Ogurtsov, Aleksey Y., Spiridonov, Alexey N., Novichkov, Pavel S., Spiridonov, Nikolay A., Koonin, Eugene V.
Published in Molecular biology and evolution (01.08.2010)
Published in Molecular biology and evolution (01.08.2010)
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LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome
Fukuchi, K, Katsuya, T, Sugimoto, K, Kuremura, M, Kim, H D, Li, L, Ogihara, T
Published in Journal of medical genetics (01.05.2004)
Published in Journal of medical genetics (01.05.2004)
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PUF60: a prominent new target of the autoimmune response in dermatomyositis and Sjögren's syndrome
Fiorentino, David F, Presby, Matthew, Baer, Alan N, Petri, Michelle, Rieger, Kerri E, Soloski, Mark, Rosen, Antony, Mammen, Andrew L, Christopher-Stine, Lisa, Casciola-Rosen, Livia
Published in Annals of the rheumatic diseases (01.06.2016)
Published in Annals of the rheumatic diseases (01.06.2016)
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Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants
Molinari, Elisa, Decker, Eva, Mabillard, Holly, Tellez, James, Srivastava, Shalabh, Raman, Shreya, Wood, Katrina, Kempf, Caroline, Alkanderi, Sumaya, Ramsbottom, Simon A., Miles, Colin G., Johnson, Colin A., Hildebrandt, Friedhelm, Bergmann, Carsten, Sayer, John A.
Published in European journal of human genetics : EJHG (01.12.2018)
Published in European journal of human genetics : EJHG (01.12.2018)
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A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene
Boulling, Arnaud, Corbeau, Julien, Grohs, Cécile, Barbat, Anne, Mortier, Jérémy, Taussat, Sébastien, Plassard, Vincent, Leclerc, Hélène, Fritz, Sébastien, Leymarie, Cyril, Bourgeois-Brunel, Lorraine, Ducos, Alain, Guatteo, Raphaël, Boichard, Didier, Boussaha, Mekki, Capitan, Aurélien
Published in Genetics selection evolution (Paris) (20.05.2025)
Published in Genetics selection evolution (Paris) (20.05.2025)
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Elevated X-Box Binding Protein1 Splicing and Interleukin-17A Expression Are Associated With Active Generalized Vitiligo in Gujarat Population
Jadeja, Shahnawaz D., Vaishnav, Jayvadan, Bharti, Ankit H., Begum, Rasheedunnisa
Published in Frontiers in immunology (03.01.2022)
Published in Frontiers in immunology (03.01.2022)
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Coding Sequence Rare Variants Identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy
Hershberger, Ray E., Norton, Nadine, Morales, Ana, Li, Duanxiang, Siegfried, Jill D., Gonzalez-Quintana, Jorge
Published in Circulation. Cardiovascular genetics (01.04.2010)
Published in Circulation. Cardiovascular genetics (01.04.2010)
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Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay
Zhang, Zhenguo, Xin, Dedong, Wang, Ping, Zhou, Li, Hu, Landian, Kong, Xiangyin, Hurst, Laurence D
Published in BMC biology (14.05.2009)
Published in BMC biology (14.05.2009)
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Prospective Analysis of Cystic Fibrosis Transmembrane Regulator Mutations in Adults With Bronchiectasis or Pulmonary Nontuberculous Mycobacterial Infection
Ziedalski, Tomasz M., Kao, Peter N., Henig, Noreen R., Jacobs, Susan S., Ruoss, Stephen J.
Published in Chest (01.10.2006)
Published in Chest (01.10.2006)
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