Results 21 to 30 of about 2,885,338 (147)

Cryptic splice isoforms are produced due to selection of alternative 3’SS.

, 2021
A. Relative splice site position distribution for cryptic introns (relative to the designed splice site position), for the 5’ splice site (left), and the 3’ splice site (right). B.
Zohar Yakhini (14865), Orna Dahan (206232), Dvir Schirman (6528296), Yitzhak Pilpel (6897)   +3 more
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Activation of cryptic splice sites in three patients with chronic granulomatous disease

Molecular Genetics & Genomic Medicine, 2019
Background Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase.
Martin de Boer, Karin van Leeuwen, Mathias Hauri‐Hohl, Dirk Roos   +3 more
doaj   +1 more source

Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease [PDF]

, 2001
Cowden disease is an autosomal dominant syndrome characterized by facial trichilemmomas, acral keratoses, papillomatous papules, mucosal lesions, and an increased risk for breast and nonmedullary thyroid cancer.
Stefan Zeuzem, Raedle, Jochen, Plotz, Guido, Manfred Wolter, Meltzer, Stephen J., Guido Plotz, Stephen J. Meltzer, Angela Brieger, Trojan, Joerg, Wolter, Manfred, Brieger, Angela, Joerg Trojan, Jochen Raedle, Zeuzem, Stefan   +13 more
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Cryptic U2-dependent pre-mRNASplice site usage induced by splice switching antisense oligonucleotides [PDF]

, 2021
Antisense oligomers (AOs) are increasingly being used for modulating RNA splicing in live cells, both for research and for therapeutic purposes. While the most common intended effect of these AOs is to induce skipping of whole exons, rare examples are ...
Ham, K., Aung-Htut, M., Greer, K., Keegan, N., McIntosh, C., Fletcher, S., Wilton, S., Zaw, K.   +7 more
core  

Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing

Frontiers in Genetics, 2020
Splice isoform structure and abundance can be affected by either noncoding or masquerading coding variants that alter the structure or abundance of transcripts.
Eliseos J. Mucaki, Ben C. Shirley, Peter K. Rogan, Peter K. Rogan, Peter K. Rogan, Peter K. Rogan   +5 more
doaj   +1 more source

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

HGG Advances, 2022
Summary: Predicting the pathogenicity of acceptor splice-site variants outside the essential AG is challenging, due to high sequence diversity of the extended splice-site region. Critical analysis of 24,445 intronic extended acceptor splice-site variants
Samantha J. Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K. Lu, Kristi J. Jones, Christina Liang, Wui-Kwan Wong, Anthony J. Peduto, Leigh B. Waddell, Frances J. Evesson, Sandra T. Cooper   +12 more
doaj   +1 more source

Epidermolysis Bullosa in Calves in the United Kingdom [PDF]

, 2010
Epidermolysis bullosa (EB) was diagnosed in eight calves from four farms in the United Kingdom on the basis of clinical, histological and ultrastructural findings. In three affected herds, pedigree Simmental bulls had been mated with Simmental-cross cows.
Skuse, A.M., Philbey, A W, Higgins, R J, Fraser, M., Thompson, H., Higgins, R.J., Day, M J, Foster, A.P., Higgins, R. J., Fraser, M.A., Day, M.J., Philbey, A. W., Thomson, J., Skuse, A M, Fraser, M A, Philbey, A., Foster, A P, Bowden, P E, Bowden, P.E., Barrett, D. C., Thomson, J. R., Bowden, P. E., Fraser, Mary, Day, M. J., Thomson, J R, Thompson, H, Barrett, D C, Fraser, M. A., Barrett, D.C., Skuse, A. M., Bowden, Paul Edward, Foster, A. P.   +31 more
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Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis [v2; ref status: indexed, http://f1000r.es/54y]

F1000Research, 2015
The interpretation of genomic variants has become one of the paramount challenges in the post-genome sequencing era. In this review we summarize nearly 20 years of research on the applications of information theory (IT) to interpret coding and non-coding
Natasha G. Caminsky, Eliseos J. Mucaki, Peter K. Rogan   +2 more
doaj   +1 more source

A broad analysis of splicing regulation in yeast using a large library of synthetic introns.

PLoS Genetics, 2021
RNA splicing is a key process in eukaryotic gene expression, in which an intron is spliced out of a pre-mRNA molecule to eventually produce a mature mRNA.
Dvir Schirman, Zohar Yakhini, Yitzhak Pilpel, Orna Dahan   +3 more
doaj   +1 more source

Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies [PDF]

, 2023
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Cathleen Lutz, Sonia Vazquez-Sanchez, Paayman Jafar-nejad, Aamir Zuberi, Ze’ev Melamed, López-Erauskin, Jone, Ling, Karen, Baughn, Michael, Acks, Eitan, Lutz, Cathleen, Maximilliano Presa, Taupin, Vanessa, Bennett, C, Frank Rigo, Bennett, C Frank, Vazquez-Sanchez, Sonia, Melamed, Ze\u27ev, Baughn, Michael W, C. Frank Bennett, Eitan Acks, Clotilde Lagier-Tourenne, Melinda S. Beccari, Ndayambaje, I Sandra, Vanessa Taupin, Jafar-Nejad, Paayman, Beccari, Melinda, Don W. Cleveland, Artates, Jonathan, Chaturvedi, Som, Ndayambaje, I, Jonathan W. Artates, Roy Maimon, Cleveland, Don, Artates, Jonathan W, Cleveland, Don W, Melamed, Zeev, Beccari, Melinda S, Michael W. Baughn, Stephen Moore, Rigo, Frank, Karen Ling, Som Chaturvedi, Mariana Bravo-Hernández, Jone López-Erauskin, Agra de Almeida Quadros, Ana, Maimon, Roy, Agra de Almeida Quadros, Ana R, Zuberi, Aamir, Presa, Maximilliano, Gonzalo-Gil, Elena, Moore, Stephen, Lagier-Tourenne, Clotilde, I. Sandra Ndayambaje, Bravo-Hernández, Mariana, Ana R. Agra de Almeida Quadros, Elena Gonzalo-Gil, Presa, Maximiliano   +56 more
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