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The Role of the U5 snRNP in Genetic Disorders and Cancer.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.636620
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- Article
Bi-allelic FRA10AC1 variants in a multisystem human syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
Mutation in the U2 snRNA influences exon interactions of U5 snRNA loop 1 during pre-mRNA splicing.
- Published in:
- EMBO Journal, 2006, v. 25, n. 16, p. 3813, doi. 10.1038/sj.emboj.7601258
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- Publication type:
- Article
Functional analysis of the U5 snRNA loop 1 in the second catalytic step of yeast pre-mRNA splicing.
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- EMBO Journal, 1998, v. 17, n. 2, p. 565, doi. 10.1093/emboj/17.2.565
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- Publication type:
- Article
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 805, doi. 10.1007/s00439-021-02319-7
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- Publication type:
- Article
Analysis of Synthetic Lethality Reveals Genetic Interactions Between the GTPase Snu114p and snRNAs in the Catalytic Core of the Saccharomyces cerevisiae Spliceosome.
- Published in:
- Genetics, 2009, v. 183, n. 2, p. 493, doi. 10.1534/genetics.109.107243
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- Publication type:
- Article
Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy.
- Published in:
- Cardiogenetics, 2021, v. 11, n. 2, p. 73, doi. 10.3390/cardiogenetics11020009
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- Publication type:
- Article
Assessment of disease-associated missense variants in RYR2 on transcript splicing.
- Published in:
- Cardiogenetics, 2020, v. 10, n. 1, p. 11, doi. 10.4081/cardiogenetics.2020.8637
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- Publication type:
- Article
Remodeling of U2-U6 snRNA helix I during pre-mRNA splicing by Prp16 and the NineTeen Complex protein Cwc2.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 12, p. 8008, doi. 10.1093/nar/gku431
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- Publication type:
- Article
The RNA binding protein Cwc2 interacts directly with the U6 snRNA to link the nineteen complex to the spliceosome during pre-mRNA splicing.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 13, p. 4205, doi. 10.1093/nar/gkp341
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- Publication type:
- Article
The U1, U2 and U5 snRNAs crosslink to the 5′ exon during yeast pre-mRNA splicing.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 3, p. 814, doi. 10.1093/nar/gkm1098
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- Publication type:
- Article
Large-scale profiling of noncoding RNA function in yeast.
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- PLoS Genetics, 2018, v. 14, n. 3, p. 1, doi. 10.1371/journal.pgen.1007253
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- Publication type:
- Article
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
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- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01277-1
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- Publication type:
- Article
Functional and transcriptional profiling of non-coding RNAs in yeast reveal context-dependent phenotypes and in trans effects on the protein regulatory network.
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- PLoS Genetics, 2021, v. 17, n. 1, p. 1, doi. 10.1371/journal.pgen.1008761
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- Publication type:
- Article
Mutations in U5 snRNA loop 1 influence the splicing of different genes in vivo.
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- Nucleic Acids Research, 2002, v. 30, n. 24, p. 5476, doi. 10.1093/nar/gkf692
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- Publication type:
- Article
Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
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- PLoS ONE, 2020, v. 15, n. 7, p. 1, doi. 10.1371/journal.pone.0233582
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- Publication type:
- Article
The U5 sn RNA internal loop 1 is a platform for Brr2, Snu114 and Prp8 protein binding during U5 sn RNP assembly.
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- Journal of Cellular Biochemistry, 2013, v. 114, n. 12, p. 2770, doi. 10.1002/jcb.24625
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- Publication type:
- Article
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome.
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- Clinical Genetics, 2022, v. 101, n. 2, p. 255, doi. 10.1111/cge.14082
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- Publication type:
- Article
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
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- Clinical Genetics, 2019, v. 96, n. 6, p. 515, doi. 10.1111/cge.13631
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- Publication type:
- Article
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
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- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3704, doi. 10.1093/hmg/ddz169
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- Publication type:
- Article
The role of splicing factors in retinitis pigmentosa: links to cilia.
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- Biochemical Society Transactions, 2021, v. 49, n. 3, p. 1221, doi. 10.1042/BST20200798
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- Publication type:
- Article
Non-coding RNAs and disease: the classical ncRNAs make a comeback.
- Published in:
- Biochemical Society Transactions, 2016, v. 44, n. 4, p. 1073, doi. 10.1042/BST20160089
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- Publication type:
- Article
Non-coding RNAs in Saccharomyces cerevisiae: what is the function?
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- Biochemical Society Transactions, 2012, v. 40, n. 4, p. 907, doi. 10.1042/BST20120042
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- Publication type:
- Article
A new series of yeast shuttle vectors for the recovery and identification of multiple plasmids from Saccharomyces cerevisiae.
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- Yeast, 2007, v. 24, n. 9, p. 777, doi. 10.1002/yea.1509
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- Publication type:
- Article
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type.
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- Human Mutation, 2020, v. 41, n. 8, p. 1372, doi. 10.1002/humu.24027
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- Publication type:
- Article
Methods in Molecular Biology, Vol. 257: mRNA Processing and Metabolism: Methods and Protocols. Edited by Daniel R. Schoenberg.
- Published in:
- ChemBioChem, 2004, v. 5, n. 11, p. 1606, doi. 10.1002/cbic.200300183
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- Publication type:
- Article