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Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
RNA Splice Sites (0):
Recent article
RNA Splice Sites
Abstract
With recent advances in microarrays and sequencing it is now relatively straightforward to compare pre-mRNA splicing patterns in different cellular conditions on a genome-wide scale. Such studies have revealed extensive changes in cellular splicing programs in response to stimuli such as neuronal dep...
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PMID: 21596569
PDF is available here.
PDF is available here.
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Abstract
We report on a 3.5-year-old girl with progeroid facial signs of neonatal onset, lipodystrophy, large head circumference with corresponding hydrocephaly, and tall stature at the end of infancy. Her facial appearance showed convincing clinical similarities to the above-mentioned case. We identified a...
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PMID: 21594993
PDF is available here.
PDF is available here.
Trends in Genetics (27)1 2011
Abstract
We suggest that deletion of pre-existing introns could occur via the same pathway. We propose a novel framework in which species-specific differences in the activity of NHEJ and homologous recombination (HR) during the repair of DSBs underlie changes in intron density....
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PMID: 21106271
PDF is available here.
PDF is available here.
Abstract
We generated high-resolution maps of homotypic and heterotypic Drosophila H2A.Z (H2Av) nucleosomes. Although homotypic and heterotypic H2A.Z nucleosomes mapped throughout most of the genome, homotypic nucleosomes were enriched and heterotypic nucleosomes were depleted downstream of active promoters...
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PMID: 21057526
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)45 2010
Abstract
We examined BRAF in rheumatoid synovial fibroblasts. The strong gain-of-function mutation, V600R, of BRAF found in melanomas and other cancers was identified in first passage synovial fibroblasts from two of nine rheumatoid arthritis patients and confirmed by restriction site mapping. BRAF-specific...
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PMID: 20843808
PDF is available here.
PDF is available here.
Abstract
We characterized two alternative splicing-derived variants of chitin synthase 1 gene (LmCHS1) from the oriental migratory locust, Locusta migratoria manilensis (Meyen). Each cDNA of the two variants (LmCHS1A and LmCHS1B) consists of 5116 nucleotides that include a 4728-nucleotide open reading frame...
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PMID: 20713155
PDF is available here.
PDF is available here.
Abstract
We conducted a detailed analysis of hnRNP A/B sequences and expression patterns across six vertebrates. Alternative exons emerged via the introduction of new splice sites, changes in the strengths of existing splice sites, and the accumulation of auxiliary splicing regulatory motifs. Observed isofor...
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PMID: 20651029
PDF is available here.
PDF is available here.
Molecular Cell (39)3 2010
Abstract
We developed an in vitro assay sensitive to proofreading of 5' splice site cleavage. We inactivated spliceosomes by disrupting a metal-ligand interaction at the catalytic center and discovered that, when the DEAH box ATPase Prp16 was disabled, these spliceosomes catalyzed 5' splice site cleavage but...
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PMID: 20705241
PDF is available here.
PDF is available here.
Journal of Virology (84)16 2010
Abstract
We show that the most frequently used 3'-splice site on the HPV-16 genome, site SA3358, which is used to produce primarily E4, E6, and E7 mRNAs, is regulated by ASF/SF2. Splice site SA3358 is immediately followed by 15 potential binding sites for the splicing factor ASF/SF2. Recombinant ASF/SF2 bind...
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PMID: 20519389
PDF is available here.
PDF is available here.
Abstract
We have recently shown that transcription initiation RNAs (tiRNAs) are derived from sequences immediately downstream of transcription start sites. Here, using cytoplasmic and nuclear small RNA high-throughput sequencing datasets, we report the identification of a second class of nuclear-specific app...
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PMID: 20622877
PDF is available here.
PDF is available here.
Abstract
We have recently shown that transcription initiation RNAs (tiRNAs) are derived from sequences immediately downstream of transcription start sites. Here, using cytoplasmic and nuclear small RNA high-throughput sequencing datasets, we report the identification of a second class of nuclear-specific app...
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PMID: 20622877
PDF is available here.
PDF is available here.
Abstract
Our investigation of spliced leader trans-splicing in distantly related Dorylaimia nematodes indicates that spliced-leader trans-splicing arose before the nematode phylum and suggests that the spliced leader RNA gene complements in extant nematodes have evolved from a common ancestor with a diverse...
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PMID: 20659016
PDF is available here.
PDF is available here.
Abstract
Flowering time is controlled by precision in gene regulation mediated by different pathways. Two Arabidopsis thaliana components of the autonomous flowering pathway, FCA and FPA, function as genetically independent trans-acting regulators of alternative cleavage and polyadenylation. FCA and FPA dire...
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PMID: 20659007
PDF is available here.
PDF is available here.
Human Mutation (31)7 2010
Abstract
We found SOHLH1 (spermatogenesis and oogenesis-specific basic helix-loop-helix 1) as the first testis-specific basic helix-loop-helix transcription factor essential for spermatogonial differentiation. SOHLH1 therefore represents an excellent candidate gene for testicular failure such as nonobstructi...
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PMID: 20506135
PDF is available here.
PDF is available here.
Abstract
We have found that the ribosome can translate mutated lariat intermediates. By glycerol gradient analysis, we have found that the spliceosome can dissociate mutated lariat intermediates in vivo in a manner that requires the DEAH box ATPase Prp43p. Through an in vitro assay, we demonstrate that Prp43...
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PMID: 20463285
PDF is available here.
PDF is available here.
Abstract
Recent developments in molecular therapies for Duchenne muscular dystrophy (DMD) demand accurate genetic diagnosis, because therapies are mutation specific. The KUCG (Kobe University Clinical Genetics) database for DMD and Becker muscular dystrophy is a hospital-based database comprising 442 cases....
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PMID: 20485447
PDF is available here.
PDF is available here.
Thrombosis Research (125)5 2010
Abstract
We characterized the mutant mRNA, and the secretion and function of the mutant PS molecule associated with the mutation. RT-PCR was used to detect the aberrant mRNA in the patient's platelets, the amount of which was markedly reduced and lacked the region corresponding to exon 4 coding the TSR of th...
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PMID: 20022358
PDF is available here.
PDF is available here.
Abstract
We report a case of acquired microcephaly in a male infant. Testing for mutations in the MECP2 gene identified a de novo hemizygous c.378-3C>G mutation at a highly conserved 3' splice site, consistent with Rett syndrome. Other distinctive features included periodic hypertonicity, decreased mitochond...
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PMID: 20142466
PDF is available here.
PDF is available here.
Abstract
We show that XRCC2 is highly conserved and that most substantial truncations of the protein destroy its ability to function. XRCC2 and its partner protein RAD51L3 are found to interact with RAD51 in the 2-hybrid system, and XRCC2 is shown to be important but not essential for the accumulation of RAD...
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PMID: 20189471
PDF is available here.
PDF is available here.
Abstract
Analysis of seven Indian phenylketonuria families has revealed four novel mutations in the phenylalanine hydroxylase gene; two affected consensus splice sequence and the 3' UTR, respectively, while the other two were single base insertion and deletion mutations, respectively. A novel 3' splice site...
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PMID: 20188615
PDF is available here.
PDF is available here.
Abstract
We report on a patient who was diagnosed with XLA at the age of 10years. The diagnosis was delayed due to near-normal levels of serum immunoglobulins, although he presented with severe and recurrent bacterial infections since the age of 1year. He was demonstrated to have a novel non-invariant splice...
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PMID: 20122858
PDF is available here.
PDF is available here.
Abstract
Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is essential in the process of intracellular pa...
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PMID: 20167518
PDF is available here.
PDF is available here.
Abstract
We computationally predicted an exhaustive list of putative isoforms of Aspergillus flavus proteins from 20 371 expressed sequence tags to investigate whether an alternative splicing protein database can assign a greater proportion of mass spectrometry data. The newly constructed AS database provide...
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PMID: 20047314
PDF is available here.
PDF is available here.
Abstract
We constructed the first mouse model that develops both deafness and retinal degeneration. The same truncated mRNA transcript found in Usher 1C patients is found in the cochleae and retinas of these knock-in mice. Absent auditory-evoked brainstem responses indicated that the mutant mice are deaf at...
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PMID: 20095043
PDF is available here.
PDF is available here.
Abstract
We report a 13-year-old African American boy with diffusely metastatic PGL and compound heterozygous mutation leading to a novel splice donor region DNA sequence variant in the SDHB gene. Family history was positive for non-classical congenital adrenal hyperplasia and pituitary adenoma. After surgic...
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PMID: 19927285
PDF is available here.
PDF is available here.
médecine/sciences (26)2 2010
Abstract
Archives of Neurology (67)2 2010
Abstract
Pathogenic mutations were found only in FTD-spectrum cases and not in other related neurodegenerative diseases. Haploinsufficiency of GRN is the predominant mechanism leading to FTD....
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PMID: 20142524
PDF is available here.
PDF is available here.
Abstract
We measured the expression of M1 and M2 mRNA and protein isoforms in mouse tissues, tumor cell lines, and during terminal differentiation of muscle cells, and show that alternative splicing regulation is sufficient to account for the levels of expressed protein isoforms. We further show that the M1-...
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PMID: 20133837
PDF is available here.
PDF is available here.
Abstract
We present an approach that combines rule-based filters and a Bayesian Classifier to identify a class of snoRNAs (H/ACA) without requiring target sequence information. It takes advantage of unique attributes of their genomic organization and improved species-specific motif characterization to predic...
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PMID: 20038629
PDF is available here.
PDF is available here.
Cardiology (115)1 2010
Abstract
This study suggests that mutation location in the MYH7 gene and changes in amino acid composition can have a negative impact on the disease outcome in individuals with cardiomyopathy.
(c) 2009 S. Karger AG, Basel....
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PMID: 19864899
PDF is available here.
PDF is available here.
médecine/sciences (26)1 2010
Abstract
Abstract
The present findings broaden the allelic spectrum of HPGD gene to include a novel c.217+1G>A mutation. Mutated patients display a homogeneous phenotype mainly consisting in digital clubbing, periostosis, acro-osteolysis, hyperhidrosis and mild pachydermia. Earliest manifestations include delayed clo...
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PMID: 20406614
PDF is available here.
PDF is available here.
Human Genetics (127)1 2010
Abstract
Abstract
Inflammatory bowel diseases (IBD) encompass inflammatory disorders affecting the gastrointestinal tract, primarily ulcerative colitis (UC) and Crohn's disease (CD). The risk of developing colorectal cancer (CRC) is increased in patients with IBD. The CCND1 protein is the regulatory subunit of an enzy...
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PMID: 20306448
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
We describe a 2-month-old female with lamellar ichthyosis and prolonged collodion membrane with two constrictive bands of the fingers causing significant erythema, edema, and pain. We suggest prompt release of these constrictive bands with an 11-blade and closely follow up of collodion babies until...
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PMID: 20137757
PDF is available here.
PDF is available here.
Molecular Vision (16) 2010
Abstract
Our results demonstrated that a splice site mutation of CRYBA1/A3 was responsible for the autosomal dominant posterior polar congenital cataract in a four-generation Chinese pedigree. The same mutation in this gene had previously been reported to be associated with other phenotype cataracts. This st...
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PMID: 20142846
PDF is available here.
PDF is available here.
Dermatology (220)3 2010
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy.
Abstract
We identified 2 splice site mutations in the P-cadherin gene in these families. One was a novel mutation, Ivs12-2A-->G and the other a recurrent mutation, Ivs10-1G-->T. A screening assay for the novel mutation ruled out the possibility of a polymorphism. Using haplotype analysis, we determined that...
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PMID: 20203473
PDF is available here.
PDF is available here.
Molecular Vision (16) 2010
Abstract
To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts.
Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease...
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PMID: 21139983
PDF is available here.
PDF is available here.
Molecular Vision (16) 2010
Abstract
To identify the solute carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) mutation spectrum and to perform genotype-phenotype correlations in autosomal recessive Congenital Hereditary Endothelial Dystrophy (CHED2) in North Indian patients.
Twenty-five patients from twenty families cl...
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PMID: 21203343
PDF is available here.
PDF is available here.
Molecular Vision (16) 2010
Abstract
We investigated the molecular determinant of a mild form of retinopathy in association with a subtle splicing modulation of MYO7A mRNA.
Affected members underwent detailed audiologic and ocular characterization. DNA samples from family members were genotyped with polymorphic microsatellite markers....
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PMID: 21031134
PDF is available here.
PDF is available here.
Molecular Vision (16) 2010
Abstract
To investigate the consequence of a major intrinsic protein MIP splice-site mutation (c.607-1G>A) in a four-generation Chinese pedigree afflicted with autosomal dominant congenital cataracts (ADCC).
Both a mutated minigene with c.607-1G>A, and a wild-type minigene were constructed using the pTARGET...
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PMID: 21139677
PDF is available here.
PDF is available here.
Abstract
We have proposed that self-interactions between bound proteins create an RNA loop that represses internal splice sites while simultaneously activating the external sites that are brought in closer proximity. Here we show that a variety of hnRNP H binding sites can affect 5' splice site selection. Th...
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PMID: 19926721
PDF is available here.
PDF is available here.
BMC Plant Biology (10)1 2010
Abstract
Using Sanger data, we found 295 alternatively used NAGNAG acceptors in P. patens. Using 31 features and training and test datasets of constitutive and alternative NAGNAGs, we trained a classifier to predict the splicing outcome at NAGNAG tandem splice sites (alternative splicing, constitutive at the...
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PMID: 20426810
PDF is available here.
PDF is available here.
BMC Plant Biology (10) 2010
Abstract
Among the dietary essential amino acids, the most severely limiting in the cereals is lysine. Since cereals make up half of the human diet, lysine limitation has quality/nutritional consequences. The breakdown of lysine is controlled mainly by the catabolic bifunctional enzyme lysine ketoglutarate r...
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PMID: 20565711
PDF is available here.
PDF is available here.
Genes & Genetic Systems (85)6 2010
Abstract
We attempted to understand the decision making process of the learning machine on intron retention event. We adopted a hybrid learning machine approach using a random forest and association rule mining algorithm to determine the governing factors of intron retention events and their combined effect...
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PMID: 21415568
PDF is available here.
PDF is available here.
Abstract
Development (136)15 2009
Abstract
We determined that the failure of CNC cells to migrate away from the neural rod correlated with the enhanced expression of two transcription factors, foxd3 and sox10. These transcription factors have many functions in CNC cells, including the maintenance of precursor pools, timing of migration onset...
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PMID: 19570850
PDF is available here.
PDF is available here.
B M B Reports (42)6 2009
Abstract
We have examined human-mouse homologous intronless disease and non-disease genes alongside their extent of sequence conservation, tissue expression, domain and gene ontology composition to get an idea regarding evolutionary and functional attributes. We show that selection has significantly discrimi...
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PMID: 19558794
PDF is available here.
PDF is available here.
Abstract
The results allowed the identification of mutation-resistant positions. CONCLUSION: This study showed that the weak linkages within the ER could be identified, and these could provide the basis for further studies aimed at predicting possible new ER mutations....
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PMID: 19574173
PDF is available here.
PDF is available here.
Der Pathologe (30)3 2009
Abstract
We were able to examine eight patients suspected of LGMD2B clinically, histochemically. The genotype was determined in every case. We found sarcolemmal and interstitial amyloid deposits in four muscle sections. All of the mutations associated with amyloid were located in the N-terminal region of dys...
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PMID: 19326120
PDF is available here.
PDF is available here.
Human Genetics (125)3 2009
Abstract
Abstract
Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor (LDLR) gene. The synonymous mutation R385R has been shown to introduce a cryptic splice site in exon 9. The aims of this study were to establish to what extent the cryptic splice site is selected ahead of th...
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PMID: 19371225
PDF is available here.
PDF is available here.
Abstract
Our data suggest that the PSM' protein is likely not generated by alternative splicing of the PSMA gene but by different mechanism, probably via an endoproteolytic cleavage of the full-length PSMA.
(c) 2008 Wiley-Liss, Inc....
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PMID: 19107881
PDF is available here.
PDF is available here.
Abstract
Abstract
We have developed a dedicated, publicly available, splice site prediction program called NetAspGene, for the genus Aspergillus. Gene sequences from Aspergillus fumigatus, the most common mould pathogen, were used to build and test our model. Compared to many animals and plants, Aspergillus contains...
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PMID: 18948220
PDF is available here.
PDF is available here.
Abstract
We characterized FIP1L1-PDGFRA junction sequences from 113 patients at the mRNA (n=113) and genomic DNA (n=85) levels. Transcript types could be assigned in 109 patients as type A (n=50, 46%) or B (n=47, 43%), which were created by cryptic acceptor splice sites in different introns of FIP1L1 (type A...
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PMID: 18987651
PDF is available here.
PDF is available here.
Abstract
We report 12 mutations in 13 patients, of which 11 are novel mutations. Six mutations were missense, four were deletions and two were splice junction mutations. The study thus identifies novel mutations in the GPIIb gene in patients from Western India, implicating the importance of certain amino aci...
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PMID: 19172520
PDF is available here.
PDF is available here.
Abstract
We carried out a series of kinetic trap experiments using pre-mRNAs that undergo alternative 5' splice site selection or alternative exon inclusion. We show that commitment to splice site pairing in both cases occurs in the A complex, which is characterized by the ATP-dependent association of the U2...
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PMID: 19064642
PDF is available here.
PDF is available here.