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Results for
""Introns""[mesh_terms]

177 Results

Searching titles within these results

Conservation and architecture of housekeeping genes in the model marine diatom Thalassiosira pseudonana.

Zhengke Li, Yong Zhang, Wei Li, Andrew J Irwin, Zoe V Finkel

The New phytologist 2022;234(4):1363-1376

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Abstract

Cellular copper homeostasis, mitochondrial DNA instabilities, and lifespan control in the filamentous fungus Podospora anserina.

H D Osiewacz, C Borghouts

Experimental gerontology 2001;35(6-7):677-86

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Abstract

Genome-wide detection of human variants that disrupt intronic branchpoints.

Peng Zhang, Quentin Philippot, Weicheng Ren, Wei-Te Lei, Juan Li, Peter D Stenson, Pere Soler Palacín, Roger Colobran, Bertrand Boisson, Shen-Ying Zhang, Anne Puel, Qiang Pan-Hammarström, Qian Zhang, David N Cooper, Laurent Abel, Jean-Laurent Casanova

Proceedings of the National Academy of Sciences of the United States of America 2022;119(44):e2211194119

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The role of metal ions in RNA catalysis.

Martha J Fedor

Current opinion in structural biology 2003;12(3):289-95

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Abstract

Friedreich's ataxia: new insights.

Maria M Krasilnikova, Casey L Humphries, Emily M Shinsky

Emerging topics in life sciences 2023;7(3):313-323

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Abstract

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.

Ricardo Santin, Igor Araujo Vieira, Jean Costa Nunes, Maria Luiza Benevides, Fernanda Quadros, Ana Carolina Brusius-Facchin, Gabriel Macedo, Ana Paula Santin Bertoni

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2022;40(2):93-100

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The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics.

Zuben E Sauna, Jay N Lozier, Carol K Kasper, Chen Yanover, Timothy Nichols, Tom E Howard

Blood 2015;125(2):223-8

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Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.

Laurens Hannes, Marta Atzori, Alice Goldenberg, Jesús Argente, Tania Attie-Bitach, Jeanne Amiel, Catia Attanasio, Débora G Braslavsky, Ange-Line Bruel, Mireille Castanet, Christèle Dubourg, An Jacobs, Stanislas Lyonnet, Julian Martinez-Mayer, María Inés Pérez Millán, Nunziana Pezzella, Elise Pelgrims, Mio Aerden, Marijke Bauters, Anne Rochtus, Paula Scaglia, Ann Swillen, Alejandro Sifrim, Roberta Tammaro, Frederic Tran Mau-Them, Sylvie Odent, Christel Thauvin-Robinet, Brunella Franco, Jeroen Breckpot

Genetics in medicine : official journal of the American College of Medical Genetics 2024;26(4):101059

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Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.

Lu Bai, Yu Hei, Rujin Tian, Haozheng Zhang, Hongmei Xin, Yanan Yang, Lili Ge, Yuqiang Lv, Xiao Mu, Zhongtao Gai, Guohua Liu, Lifen Gao, Kaihui Zhang

Artificial cells, nanomedicine, and biotechnology 2026;54(1):74-84

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Extreme genome diversity in the hyper-prevalent parasitic eukaryote Blastocystis.

Eleni Gentekaki, Bruce A Curtis, Courtney W Stairs, Vladimír Klimeš, Marek Eliáš, Dayana E Salas-Leiva, Emily K Herman, Laura Eme, Maria C Arias, Bernard Henrissat, Frédérique Hilliou, Mary J Klute, Hiroshi Suga, Shehre-Banoo Malik, Arthur W Pightling, Martin Kolisko, Richard A Rachubinski, Alexander Schlacht, Darren M Soanes, Anastasios D Tsaousis, John M Archibald, Steven G Ball, Joel B Dacks, C Graham Clark, Mark van der Giezen, Andrew J Roger

PLoS biology 2017;15(9):e2003769

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RNA splicing: group I intron crystal structures reveal the basis of splice site selection and metal ion catalysis.

Scott A Strobel, Mary R Stahley

Current opinion in structural biology 2006;16(3):319-26

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Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

Lynette G Sadleir, Heather C Mefford, Michael S Hildebrand, Mark F Bennett, Melanie Bahlo, Denis M Nyaga, Guillem de Valles-Ibáñez, Ngaire F Keenan, Zimeng Ye, Christy W LaFlamme

Epilepsia open 2024;9(2):758-764

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AnABlast: a new in silico strategy for the genome-wide search of novel genes and fossil regions.

Juan Jimenez, Caia D S Duncan, María Gallardo, Juan Mata, Antonio J Perez-Pulido

DNA research : an international journal for rapid publication of reports on genes and genomes 2016;22(6):439-49

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Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

Franziska Alfen, Elena Putscher, Michael Hecker, Uwe Klaus Zettl, Andreas Hermann, Jan Lukas

International journal of molecular sciences 2022;23(23):

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Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.

Di Huang, Jennifer A Thompson, Shang-Chih Chen, Abbie Adams, Ianthe Pitout, Alanis Lima, Dan Zhang, Rachael C Heath Jeffery, Mary S Attia, Terri L McLaren, Tina M Lamey, John N De Roach, Samuel McLenachan, May Thandar Aung-Htut, Sue Fletcher, Steve D Wilton, Fred K Chen

Experimental eye research 2022;225():109276

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Abstract

Results: 1 – 15 / 177

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Results for ""Introns""[mesh_terms]

Conservation and architecture of housekeeping genes in the model marine diatom Thalassiosira pseudonana.

Cellular copper homeostasis, mitochondrial DNA instabilities, and lifespan control in the filamentous fungus Podospora anserina.

Genome-wide detection of human variants that disrupt intronic branchpoints.

The role of metal ions in RNA catalysis.

Friedreich's ataxia: new insights.

A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.

The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics.

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.

Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.

Extreme genome diversity in the hyper-prevalent parasitic eukaryote Blastocystis.

RNA splicing: group I intron crystal structures reveal the basis of splice site selection and metal ion catalysis.

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

AnABlast: a new in silico strategy for the genome-wide search of novel genes and fossil regions.

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

Characterising splicing defects of ABCA4 variants within exons 13-50 in patient-derived fibroblasts.

Results for
""Introns""[mesh_terms]