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Allele-specific recognition of the 3′ splice site of INS intron 1.
- Published in:
- Human Genetics, 2010, v. 128, n. 4, p. 383, doi. 10.1007/s00439-010-0860-1
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- Publication type:
- Article
Transposable elements in disease-associated cryptic exons.
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- Human Genetics, 2010, v. 127, n. 2, p. 135, doi. 10.1007/s00439-009-0752-4
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- Publication type:
- Article
Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting.
- Published in:
- Scientific Reports, 2016, p. 18741, doi. 10.1038/srep18741
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- Publication type:
- Article
Selection of Olduvai Domains during Evolution: A Role for Primate-Specific Splicing Super-Enhancer and RNA Guanine Quadruplex in Bipartite NBPF Exons.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/brainsci12070874
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- Publication type:
- Article
Natural history of genetically proven autosomal recessive Alport syndrome.
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- Pediatric Nephrology, 2014, v. 29, n. 9, p. 1535, doi. 10.1007/s00467-014-2797-4
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- Publication type:
- Article
Low frequency of alterations of the α (PPP2R1A) and β (PPP2R1B) isoforms of the subunit A of the serine-threonine phosphatase 2A in human neoplasms.
- Published in:
- Oncogene, 2000, v. 19, n. 9, p. 1191, doi. 10.1038/sj.onc.1203389
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- Publication type:
- Article
UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients.
- Published in:
- Oncogene, 2000, v. 19, n. 3, p. 463, doi. 10.1038/sj.onc.1203313
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- Publication type:
- Article
Refinement of the LOH region 1 at 11q23.1 deleted in human breast carcinomas and sublocalization of 11 expressed sequence tags within the refined region.
- Published in:
- Oncogene, 1999, v. 18, n. 8, p. 1635, doi. 10.1038/sj.onc.1202453
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- Publication type:
- Article
BACH1 517C→T transition impairs protein translocation to nucleus: A role in breast cancer susceptibility?
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- International Journal of Cancer, 2003, v. 104, n. 3, p. 389, doi. 10.1002/ijc.10947
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- Publication type:
- Article
No mutations in the BACH1 gene in BRCA1 and BRCA2 negative breast-cancer families linked to 17q22.
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- International Journal of Cancer, 2002, v. 98, n. 4, p. 638, doi. 10.1002/ijc.10214
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- Publication type:
- Article
CDH1 mutations are present in both ductal and lobular breast cancer, but promoter allelic variants show no detectable breast cancer risk.
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- International Journal of Cancer, 2002, v. 98, n. 2, p. 199, doi. 10.1002/ijc.10176
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- Publication type:
- Article
Allelic imbalance on chromosomes 13 and 17 and mutation analysis of BRCA1 and BRCA2 genes in monozygotic twins concordant for breast cancer.
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- Carcinogenesis, 2001, v. 22, n. 1, p. 27, doi. 10.1093/carcin/22.1.27
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- Publication type:
- Article
Branch site haplotypes that control alternative splicing.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3189
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- Publication type:
- Article
Exonic splicing code and coordination of divalent metals in proteins.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 3, p. 1090, doi. 10.1093/nar/gkad1161
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- Publication type:
- Article
Alu RNA fold links splicing with signal recognition particle proteins.
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- Nucleic Acids Research, 2023, v. 51, n. 15, p. 8199, doi. 10.1093/nar/gkad500
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- Publication type:
- Article
Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?
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- 2006
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- Publication type:
- journal article
Variants in the Human Insulin Gene That Affect Pre-mRNA Splicing.
- Published in:
- Diabetes, 2006, v. 55, n. 1, p. 260, doi. 10.2337/diabetes.55.01.06.db05-0773
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- Publication type:
- Article
Computational prediction of splicing regulatory elements shared by Tetrapoda organisms.
- Published in:
- BMC Genomics, 2009, v. 10, p. 508, doi. 10.1186/1471-2164-10-508
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- Publication type:
- Article
Re: Dominant negative ATM mutations in breast cancer families.
- Published in:
- 2002
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- Publication type:
- commentary
Re: Dominant Negative ATM Mutations in Breast Cancer Families.
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- JNCI: Journal of the National Cancer Institute, 2002, v. 94, n. 12, p. 951, doi. 10.1093/jnci/94.12.951
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- Publication type:
- Article
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
- Published in:
- Nucleic Acids Research, 1997, v. 25, n. 1, p. 166, doi. 10.1093/nar/25.1.166
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- Publication type:
- Article
BTKbase, Mutation Database for X-Linked Agammaglobulinemia (XLA).
- Published in:
- Nucleic Acids Research, 1996, v. 24, n. 1, p. 160, doi. 10.1093/nar/24.1.160
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- Publication type:
- Article
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 759, doi. 10.1038/ejhg.2008.257
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- Publication type:
- Article
Short tandem repeat (STR) haplotypes in HLA: an integrated 50-kb STR/linkage disequilibrium/gene map between the RING3 and HLA-B genes and identification of STR haplotype diversification in the class III region.
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- European Journal of Human Genetics, 2001, v. 9, n. 8, p. 590, doi. 10.1038/sj.ejhg.5200688
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- Publication type:
- Article
Does 77→G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 22, doi. 10.1038/ng723
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- Publication type:
- Article
Corrigendum: Exon-centric regulation of ATM expression is population-dependent and amenable to antisense modification by pseudoexon targeting.
- Published in:
- Scientific Reports, 2016, p. 25256, doi. 10.1038/srep25256
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- Publication type:
- Article
Restriction of an intron size en route to endothermy.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 5, p. 2460, doi. 10.1093/nar/gkab046
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- Publication type:
- Article
PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 12, p. 6166, doi. 10.1093/nar/gky389
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- Publication type:
- Article
Stoichiometries of U2AF35, U2AF65 and U2 snRNP reveal new early spliceosome assembly pathways.
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- Nucleic Acids Research, 2017, v. 45, n. 4, p. 2051, doi. 10.1093/nar/gkw860
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- Publication type:
- Article
Alternative splicing of U2AF1 reveals a shared epression mechanism for duplicated exons.
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- Nucleic Acids Research, 2017, v. 45, n. 1, p. 417, doi. 10.1093/nar/gkw733
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- Publication type:
- Article
Identification of U2AF(35)-dependent exons by RNA-Seq reveals a link between 3' splice-site organization and activity of U2AF-related proteins.
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- Nucleic Acids Research, 2015, v. 43, n. 7, p. 3747, doi. 10.1093/nar/gkv194
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- Publication type:
- Article
Optimal antisense target reducing INS intron 1 retention is adjacent to a parallel G quadruplex.
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- Nucleic Acids Research, 2014, v. 42, n. 12, p. 8161, doi. 10.1093/nar/gku507
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- Publication type:
- Article
Compensatory signals associated with the activation of human GC 5′ splice sites.
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- Nucleic Acids Research, 2011, v. 39, n. 16, p. 7077, doi. 10.1093/nar/gkr306
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- Publication type:
- Article
Cryptic splice sites and split genes.
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- Nucleic Acids Research, 2011, v. 39, n. 14, p. 5837, doi. 10.1093/nar/gkr203
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- Publication type:
- Article
DBASS3 and DBASS5: databases of aberrant 3′- and 5′-splice sites.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. suppl_1, p. D86, doi. 10.1093/nar/gkq887
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- Publication type:
- Article
Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. 823, doi. 10.1002/humu.20969
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- Publication type:
- Article
Phenotypic consequences of branch point substitutions.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 803, doi. 10.1002/humu.20362
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- Publication type:
- Article
Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition.
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- Nucleic Acids Research, 2007, v. 35, n. 19, p. 6399
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- Publication type:
- Article
Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 13, p. 4250, doi. 10.1093/nar/gkm402
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- Publication type:
- Article
Aberrant 3′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 16, p. 4630
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- Publication type:
- Article
Biased exon/intron distribution of cryptic and de novo 3′ splice sites.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 15, p. 4882, doi. 10.1093/nar/gki811
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- Publication type:
- Article
Exonization of AluYa5 in the human ACE gene requires mutations in both 3′ and 5′ splice sites and is facilitated by a conserved splicing enhancer.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 12, p. 3897, doi. 10.1093/nar/gki707
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- Publication type:
- Article
Cancer-Associated Substitutions in RNA Recognition Motifs of PUF60 and U2AF65 Reveal Residues Required for Correct Folding and 3′ Splice-Site Selection.
- Published in:
- Cancers, 2020, v. 12, n. 7, p. 1865, doi. 10.3390/cancers12071865
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- Publication type:
- Article
X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
- Published in:
- Clinical & Experimental Nephrology, 2016, v. 20, n. 5, p. 699, doi. 10.1007/s10157-015-1197-9
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- Publication type:
- Article
Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. 436, doi. 10.1002/humu.21458
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- Publication type:
- Article
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-...
- Published in:
- Nature, 1993, v. 361, n. 6409, p. 226, doi. 10.1038/361226a0
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- Publication type:
- Article
A birth of bipartite exon by intragenic deletion.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 287, doi. 10.1002/mgg3.277
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- Publication type:
- Article
Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY.
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- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 5, p. 451, doi. 10.1002/mgg3.89
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- Publication type:
- Article
Coding haplotype analysis supportsHCR as the putative susceptibility gene for psoriasis at the MHC PSORS1locus.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 5, p. 589, doi. 10.1093/hmg/11.5.589
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- Publication type:
- Article
Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 12, p. 2403
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- Publication type:
- Article