(Q84708077)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19823873%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Transposable elements in disease-associated cryptic exons (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19823873%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Igor Vorechovsky

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19823873%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

publication date

10 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19823873%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19823873%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19823873%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19823873%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

135-154

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19823873%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00439-009-0752-4

9 February 2020

exact match

0 references

cites work

Exon creation and establishment in human genes

1 reference

12 December 2020

Exonic splicing enhancers contribute to the use of both 3' and 5' splice site usage of rat beta-tropomyosin pre-mRNA

1 reference

12 December 2020

Interplay between exonic splicing enhancers, mRNA processing, and mRNA surveillance in the dystrophic Mdx mouse

1 reference

12 December 2020

Alu sequences in the coding regions of mRNA: a source of protein variability.

1 reference

12 December 2020

The CD44 alternative v9 exon contains a splicing enhancer responsive to the SR proteins 9G8, ASF/SF2, and SRp20.

1 reference

12 December 2020

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

1 reference

12 December 2020

Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene

1 reference

12 December 2020

The RNAz web server: prediction of thermodynamically stable and evolutionarily conserved RNA structures

1 reference

12 December 2020

The ribozyme core of group II introns: a structure in want of partners

1 reference

12 December 2020

Alu-containing exons are alternatively spliced

1 reference

12 December 2020

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.

1 reference

12 December 2020

The GANC tetraloop: a novel motif in the group IIC intron structure

1 reference

12 December 2020

Retrotransposable elements and human disease

1 reference

12 December 2020

A complex of nuclear proteins mediates SR protein binding to a purine-rich splicing enhancer

1 reference

12 December 2020

AA.AG@helix.ends: A:A and A:G base-pairs at the ends of 16 S and 23 S rRNA helices

1 reference

12 December 2020

Genomic variants in exons and introns: identifying the splicing spoilers

1 reference

12 December 2020

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

12 December 2020

A tertiary interaction detected in a human U2-U6 snRNA complex assembled in vitro resembles a genetically proven interaction in yeast

1 reference

12 December 2020

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

1 reference

12 December 2020

Features generated for computational splice-site prediction correspond to functional elements

1 reference

12 December 2020

Structural insights into SRP RNA: an induced fit mechanism for SRP assembly

1 reference

12 December 2020

The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population

1 reference

12 December 2020

Assembly of specific SR protein complexes on distinct regulatory elements of the Drosophila doublesex splicing enhancer

1 reference

12 December 2020

Structural, functional, and protein binding analyses of bovine papillomavirus type 1 exonic splicing enhancers

1 reference

12 December 2020

The UAA/GAN internal loop motif: a new RNA structural element that forms a cross-strand AAA stack and long-range tertiary interactions

1 reference

12 December 2020

Solution structure of a GAAG tetraloop in helix 6 of SRP RNA from Pyrococcus furiosus.

1 reference

12 December 2020

Multisite and bidirectional exonic splicing enhancer in CD44 alternative exon v3.

1 reference

12 December 2020

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

1 reference

12 December 2020

Relationships among stop codon usage bias, its context, isochores, and gene expression level in various eukaryotes.

1 reference

12 December 2020

RNA folding affects the recruitment of SR proteins by mouse and human polypurinic enhancer elements in the fibronectin EDA exon

1 reference

12 December 2020

Multiple and specific mRNA processing targets for the major human hnRNP proteins

1 reference

12 December 2020

RNA hairpin loop stability depends on closing base pair

1 reference

12 December 2020

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants

1 reference

12 December 2020

Solution structure of a SRP19 binding domain in human SRP RNA

1 reference

12 December 2020

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

1 reference

12 December 2020

Alu exonization events reveal features required for precise recognition of exons by the splicing machinery

1 reference

12 December 2020

Alternative splicing of intron 3 of the serine/arginine-rich protein 9G8 gene. Identification of flanking exonic splicing enhancers and involvement of 9G8 as a trans-acting factor

1 reference

12 December 2020

Repbase Update, a database of eukaryotic repetitive elements

1 reference

12 December 2020

A universal mode of helix packing in RNA.

1 reference

12 December 2020

Exonic splicing enhancer-dependent splicing of the gonadotropin-releasing hormone premessenger ribonucleic acid is mediated by tra2alpha, a 40-kilodalton serine/arginine-rich protein

1 reference

12 December 2020

Regulation of alternative RNA splicing by exon definition and exon sequences in viral and mammalian gene expression

1 reference

12 December 2020

The human splicing factors ASF/SF2 and SC35 possess distinct, functionally significant RNA binding specificities

1 reference

12 December 2020

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II

1 reference

12 December 2020

Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

1 reference

12 December 2020

Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns

1 reference

12 December 2020

Identification of positive and negative splicing regulatory elements within the terminal tat-rev exon of human immunodeficiency virus type 1.

1 reference

12 December 2020

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

1 reference

12 December 2020

Exon recognition in vertebrate splicing

1 reference

12 December 2020

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome

1 reference

12 December 2020

Exon inclusion is dependent on predictable exonic splicing enhancers

1 reference

12 December 2020

Structural Features that Give Rise to the Unusual Stability of RNA Hairpins Containing GNRA Loops

1 reference

12 December 2020

Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.

1 reference

12 December 2020

Comparative analysis of the human dystrophin and utrophin gene structures

1 reference

12 December 2020

RNA landscape of evolution for optimal exon and intron discrimination

1 reference

12 December 2020

Two different sequence elements within exon 4 are necessary for calcitonin-specific splicing of the human calcitonin/calcitonin gene-related peptide I pre-mRNA.

1 reference

12 December 2020

Frequent use of the same tertiary motif by self-folding RNAs

1 reference

12 December 2020

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA

1 reference

12 December 2020

Alu repeats and human disease

1 reference

12 December 2020

Beta + thalassemia: aberrant splicing results from a single point mutation in an intron.

1 reference

12 December 2020

A tertiary interaction in the Tetrahymena intron contributes to selection of the 5' splice site

1 reference

12 December 2020

The birth of an alternatively spliced exon: 3' splice-site selection in Alu exons

1 reference

12 December 2020

Exceptionally stable nucleic acid hairpins

1 reference

12 December 2020

RNA tertiary structure mediation by adenosine platforms

1 reference

12 December 2020

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.

1 reference

12 December 2020

Regulation of fibronectin EDA exon alternative splicing: possible role of RNA secondary structure for enhancer display.

1 reference

12 December 2020

Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation

1 reference

12 December 2020

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

1 reference

12 December 2020

RNA secondary structure analysis using RNAstructure

1 reference

12 December 2020

Prediction of RNA secondary structure by free energy minimization

1 reference

12 December 2020

Dynamic regulation of alternative splicing by silencers that modulate 5' splice site competition

1 reference

12 December 2020

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

1 reference

12 December 2020

Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

1 reference

12 December 2020

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1 reference

12 December 2020

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

1 reference

12 December 2020

Allele-specific transcript isoforms in human

1 reference

12 December 2020

An exon splice enhancer mutation causes autosomal dominant GH deficiency

1 reference

12 December 2020

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

1 reference

12 December 2020

Multifactorial interplay controls the splicing profile of Alu-derived exons

1 reference

12 December 2020

Interspersed repeats and other mementos of transposable elements in mammalian genomes

1 reference

12 December 2020

Identification of nuclear and cytoplasmic mRNA targets for the shuttling protein SF2/ASF

1 reference

12 December 2020

Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition

1 reference

12 December 2020

Specific binding of an exonic splicing enhancer by the pre-mRNA splicing factor SRp55

1 reference

12 December 2020

Exaptation of protein coding sequences from transposable elements

1 reference

12 December 2020

Architecture of ribosomal RNA: constraints on the sequence of "tetra-loops"

1 reference

12 December 2020

Crystal Structure of a Self-Spliced Group II Intron

1 reference

12 December 2020

Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta

1 reference

12 December 2020

Multiple distinct splicing enhancers in the protein-coding sequences of a constitutively spliced pre-mRNA.

1 reference

12 December 2020

A new type of mutation causes a splicing defect in ATM.

1 reference

12 December 2020

Identification of exon sequences involved in splice site selection

1 reference

12 December 2020

Functional persistence of exonized mammalian-wide interspersed repeat elements (MIRs)

1 reference

12 December 2020

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

1 reference

12 December 2020

GAAA tetraloop and conserved bulge stabilize tertiary structure of a group I intron domain

1 reference

12 December 2020

Alternative splicing of Alu exons--two arms are better than one

1 reference

12 December 2020

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

1 reference

12 December 2020

Inference of splicing regulatory activities by sequence neighborhood analysis

1 reference

12 December 2020

Intron phase correlations and the evolution of the intron/exon structure of genes

1 reference

12 December 2020

Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII.

1 reference

12 December 2020

Alu elements as regulators of gene expression

1 reference

12 December 2020

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

1 reference

12 December 2020

Alternative isoform regulation in human tissue transcriptomes

1 reference

12 December 2020

Intronic Alus influence alternative splicing

1 reference

12 December 2020

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

1 reference

12 December 2020

Sources and evolution of human Alu repeated sequences

1 reference

12 December 2020

Common and distinctive features of GNRA tetraloops based on a GUAA tetraloop structure at 1.4 A resolution

1 reference

12 December 2020

RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons

1 reference

12 December 2020

Multiple tertiary interactions involving domain II of group II self-splicing introns.

1 reference

12 December 2020

Genetics: Junk DNA as an evolutionary force

1 reference

12 December 2020

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

1 reference

12 December 2020

Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.

1 reference

12 December 2020

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

1 reference

12 December 2020

The birth of new exons: mechanisms and evolutionary consequences

1 reference

12 December 2020

Comparative analysis detects dependencies among the 5' splice-site positions

1 reference

12 December 2020

Randomization-selection analysis of snRNAs in vivo: evidence for a tertiary interaction in the spliceosome

1 reference

12 December 2020

Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons

1 reference

12 December 2020

Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family

1 reference

12 December 2020

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

1 reference

12 December 2020

The Sequence of the Human Genome

1 reference

12 December 2020

Human genomic sequences that inhibit splicing

1 reference

12 December 2020

Repetitive sequences in complex genomes: structure and evolution

1 reference

12 December 2020

HnRNP L binds a cis-acting RNA sequence element that enables intron-dependent gene expression

1 reference

12 December 2020

Comparative analysis of transposed element insertion within human and mouse genomes reveals Alu's unique role in shaping the human transcriptome.

1 reference

12 December 2020

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

12 December 2020

Pre-mRNA secondary structures influence exon recognition.

1 reference

12 December 2020

Comparative anatomy of 16-S-like ribosomal RNA.

1 reference

12 December 2020

Structural principles from large RNAs

1 reference

12 December 2020

RNAalifold: improved consensus structure prediction for RNA alignments

1 reference

12 December 2020

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

1 reference

12 December 2020

Exon skipping induced by cold stress in a potato invertase gene transcript.

1 reference

12 December 2020

A splicing enhancer in the human fibronectin alternate ED1 exon interacts with SR proteins and stimulates U2 snRNP binding

1 reference

12 December 2020

Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients

1 reference

12 December 2020

Systematic identification and analysis of exonic splicing silencers.

1 reference

12 December 2020

Duplication, coclustering, and selection of human Alu retrotransposons

1 reference

12 December 2020

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

1 reference

12 December 2020

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

1 reference

12 December 2020

A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene.

1 reference

12 December 2020

Incorporating chemical modification constraints into a dynamic programming algorithm for prediction of RNA secondary structure

1 reference

12 December 2020

Functional insights from the structure of the 30S ribosomal subunit and its interactions with antibiotics

1 reference

12 December 2020

Alternative splicing of the adenylyl cyclase stimulatory G-protein G alpha(s) is regulated by SF2/ASF and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) and involves the use of an unusual TG 3'-splice Site

1 reference

12 December 2020

Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals

1 reference

12 December 2020

Stress-induced aberrant splicing of TSG101: association to high tumor grade and p53 status in breast cancers

1 reference

12 December 2020

RNA tertiary interactions in the large ribosomal subunit: the A-minor motif

1 reference

12 December 2020

SF2/ASF binds to a splicing enhancer in the third HIV-1 tat exon and stimulates U2AF binding independently of the RS domain.

1 reference

12 December 2020

A story: unpaired adenosine bases in ribosomal RNAs

1 reference

12 December 2020

Structure of the S15,S6,S18-rRNA complex: assembly of the 30S ribosome central domain

1 reference

12 December 2020

Branch site haplotypes that control alternative splicing

1 reference

12 December 2020

Evolutionary rates and patterns for human transcription factor binding sites derived from repetitive DNA

1 reference

12 December 2020

A subset of SR proteins activates splicing of the cardiac troponin T alternative exon by direct interactions with an exonic enhancer

1 reference

12 December 2020

Identification of a new class of exonic splicing enhancers by in vivo selection

1 reference

12 December 2020

Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics

1 reference

12 December 2020

TranspoGene and microTranspoGene: transposed elements influence on the transcriptome of seven vertebrates and invertebrates

1 reference

12 December 2020

A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.

1 reference

12 December 2020

Stability difference between DNA and RNA mini-hairpins containing two G-C pairs

1 reference

12 December 2020

MIRs are classic, tRNA-derived SINEs that amplified before the mammalian radiation

1 reference

12 December 2020

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

12 December 2020

Regulation of sex-specific RNA splicing at the Drosophila doublesex gene: cis-acting mutations in exon sequences alter sex-specific RNA splicing patterns

1 reference

12 December 2020

Initial sequencing and analysis of the human genome

1 reference

12 December 2020