Results 21 to 30 of about 2,990,182 (255)

EnsembleSplice: ensemble deep learning model for splice site prediction

BMC Bioinformatics, 2022
Background Identifying splice site regions is an important step in the genomic DNA sequencing pipelines of biomedical and pharmaceutical research. Within this research purview, efficient and accurate splice site detection is highly desirable, and a ...
Victor Akpokiro, Trevor Martin, Oluwatosin Oluwadare   +2 more
doaj   +1 more source

Splice-disrupt genomic variants in prostate cancer

, 2022
Background: Splice-disrupt genomic variants are one of the causes of cancer-causing errors in gene expression. Little is known about splice-disrupt genomic variants.
SF Alamery (13147113), IO Alanazi (10501115), Esmaeil Ebrahimie (9487976), Manijeh Mohammadi Dehcheshmeh (9482963)   +3 more
core   +1 more source

A computational survey of candidate exonic splicing enhancer motifs in the model plant Arabidopsis thaliana

BMC Bioinformatics, 2007
Background Algorithmic approaches to splice site prediction have relied mainly on the consensus patterns found at the boundaries between protein coding and non-coding regions.
Mount Stephen M, Pertea Mihaela, Salzberg Steven L   +2 more
doaj   +1 more source

Mutations in the U5 snRNA result in altered splicing of subsets of pre-mRNAs and reduced stability of Prp8 [PDF]

, 2009
The U5 snRNA loop 1 aligns the 5' and 3' exons for ligation during the second step of pre-mRNA splicing. U5 is intimately associated with Prp8, which mediates pre-mRNA repositioning within the catalytic core of the spliceosome and interacts directly with
David Barrass, J., Kershaw, Christopher J., O'Keefe, Raymond T., Barrass, J. David, Beggs, Jean D., O'Keefe, Raymond T.; id_orcid   +5 more
core   +1 more source

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

The 3' splice site of influenza A segment 7 mRNA can exist in two conformations: a pseudoknot and a hairpin.

PLoS ONE, 2012
The 3' splice site of influenza A segment 7 is used to produce mRNA for the M2 ion-channel protein, which is critical to the formation of viable influenza virions.
Walter N Moss, Lumbini I Dela-Moss, Elzbieta Kierzek, Ryszard Kierzek, Salvatore F Priore, Douglas H Turner   +5 more
doaj   +1 more source

Genomic splice-site analysis reveals frequent alternative splicing close to the dominant splice site [PDF]

, 2006
Alternative pre-mRNA splicing may be the most efficient and widespread mechanism to generate multiple protein isoforms from single genes. Here, we describe the genomic analysis of one of the most frequent types of alternative pre-mRNA splicing ...
Baldi, Pierre F, Fox-Walsh, Kristi L, Hertel, Klemens J, Dou, Yimeng   +3 more
core   +1 more source

An automated framework for evaluation of deep learning models for splice site predictions

Scientific Reports, 2023
A novel framework for the automated evaluation of various deep learning-based splice site detectors is presented. The framework eliminates time-consuming development and experimenting activities for different codebases, architectures, and configurations ...
Amin Zabardast, Elif Güney Tamer, Yeşim Aydın Son, Arif Yılmaz   +3 more
doaj   +1 more source

Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8

Journal of Lipid Research, 2001
We systematically investigated the molecular defects causing a primary LPL deficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents.
Yasuyuki Ikeda, Atsuko Takagi, Yuusei Nakata, Yasuhiko Sera, Sumio Hyoudou, Kazuko Hamamoto, Yoshikazu Nishi, Akira Yamamoto   +7 more
doaj   +1 more source

3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons

The Scientific World Journal, 2014
Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. Although human patients contain SMN2, a duplicate of
Sunghee Cho, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen   +9 more
doaj   +1 more source