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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.
DNA Repeat Expansion (1):
Recent article
DNA Repeat Expansion
Journal of Cell Biology (194)3 2011
Abstract
We find here that in a key dendritic RNA transport pathway (exemplified by BC1 RNA, a dendritic regulatory RNA, and protein kinase M ζ [PKMζ] mRNA, a dendritic mRNA), noncanonical purine•purine nucleotide interactions are functional determinants of RNA targeting motifs. These motifs are specific...
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PMID: 21807882
PDF is available here.
PDF is available here.
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Abstract
Dendritic cells bind an array of antigens and DC-SIGN has been postulated to act as a receptor for mucosal pathogen transmission. Bile salt-stimulated lipase (BSSL) from human milk potently binds DC-SIGN and blocks DC-SIGN mediated trans-infection of CD4(+) T-lymphocytes with HIV-1....
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PMID: 21386960
PDF is available here.
PDF is available here.
Biopolymers (93)4 2010
Abstract
We show here that energy coupling between distal lesions (8oxodG and/or abasic sites) in opposing DNA strands can be modulated by a triplet repeat bulge loop located between the lesion sites. We find this modulation to be dependent on the identity of the lesions (8oxodG vs. abasic site) and the posi...
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PMID: 19890964
PDF is available here.
PDF is available here.
Biopolymers (93)4 2010
Abstract
We show here that energy coupling between distal lesions (8oxodG and/or abasic sites) in opposing DNA strands can be modulated by a triplet repeat bulge loop located between the lesion sites. We find this modulation to be dependent on the identity of the lesions (8oxodG vs. abasic site) and the posi...
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PMID: 19890964
PDF is available here.
PDF is available here.
Biopolymers (93)4 2010
Abstract
We show here that energy coupling between distal lesions (8oxodG and/or abasic sites) in opposing DNA strands can be modulated by a triplet repeat bulge loop located between the lesion sites. We find this modulation to be dependent on the identity of the lesions (8oxodG vs. abasic site) and the posi...
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PMID: 19890964
PDF is available here.
PDF is available here.
Biopolymers (93)4 2010
Abstract
We show here that energy coupling between distal lesions (8oxodG and/or abasic sites) in opposing DNA strands can be modulated by a triplet repeat bulge loop located between the lesion sites. We find this modulation to be dependent on the identity of the lesions (8oxodG vs. abasic site) and the posi...
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PMID: 19890964
PDF is available here.
PDF is available here.
Biopolymers (93)4 2010
Abstract
We show here that energy coupling between distal lesions (8oxodG and/or abasic sites) in opposing DNA strands can be modulated by a triplet repeat bulge loop located between the lesion sites. We find this modulation to be dependent on the identity of the lesions (8oxodG vs. abasic site) and the posi...
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PMID: 19890964
PDF is available here.
PDF is available here.
Biopolymers (93)4 2010
Abstract
We show here that energy coupling between distal lesions (8oxodG and/or abasic sites) in opposing DNA strands can be modulated by a triplet repeat bulge loop located between the lesion sites. We find this modulation to be dependent on the identity of the lesions (8oxodG vs. abasic site) and the posi...
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PMID: 19890964
PDF is available here.
PDF is available here.
Abstract
We present evidence of additional duplication blocks of deeper hierarchy than the pancereal rho (rho) duplication, covering at least 20% of the cereal transcriptome. These more ancient duplicated regions, herein called sigma, are evident in both intragenomic and intergenomic analyses of rice and sor...
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PMID: 19966307
PDF is available here.
PDF is available here.
Leukemia & Lymphoma (50)10 2009
Abstract
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
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PMID: 18823727
PDF is available here.
PDF is available here.
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
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PMID: 18823727
PDF is available here.
PDF is available here.
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
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PMID: 18823727
PDF is available here.
PDF is available here.
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
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PMID: 18823727
PDF is available here.
PDF is available here.
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
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PMID: 18823727
PDF is available here.
PDF is available here.
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
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PMID: 18823727
PDF is available here.
PDF is available here.
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
|
PMID: 18823727
PDF is available here.
PDF is available here.
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
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PMID: 18823727
PDF is available here.
PDF is available here.
Brain and Development (31)6 2009
Abstract
We report a boy presenting with mental retardation, tonic seizures and dystonia but without infantile spasms. Gene sequencing detected an additional seven GCG repeats in the first polyalanine tract of the ARX gene, a mutation which leads to an expansion of the normal 16 alanine residues to 23. The s...
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PMID: 18823727
PDF is available here.
PDF is available here.
Abstract
Myotonic dystrophy is an autosomal dominant disorder characterized by myotonia, progressive muscle wasting, and cataracts. There are two forms identified: myotonic dystrophy type 1 (DM1), caused by an expansion of a CTG repeat in the 3' untranslated region of the myotonin-protein kinase (DMPK) gene...
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PMID: 19360700
PDF is available here.
PDF is available here.
Journal of Neurology (256)3 2009
The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study.
Abstract
SCA6 and DRPLA were the most frequent genetic diagnoses identified. Patterns of high-normal allele frequency in this UK population were distinct compared to other ethnic groups but this was poorly predictive of the distribution of disease in this region. The relative contribution of new mutation for...
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PMID: 19259763
PDF is available here.
PDF is available here.
Archives of Neurology (66)1 2009
Abstract
Our results suggest that SNCA rearrangements may be more frequent than point mutations in ADPD. Furthermore, our results indicate that the phenotype associated with SNCA multiplications correlates with the number of copies of the gene and provides the first insight into the mechanisms underlying SNC...
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PMID: 19139307
PDF is available here.
PDF is available here.
BMC Molecular Biology (10)1 2009
Abstract
Under selection for lac function, colonies bearing multiple copies of the mutant lac operon appeared at a constant rate of approximately 4 to 5 per million cells plated per day, on days two through seven after plating. Expansion was not seen in a recA strain; null mutations in recBCD and ruvC reduce...
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PMID: 19236706
PDF is available here.
PDF is available here.
Rinsho Shinkeigaku (48)11 2008
Abstract
Spinocerebellar ataxia type 10 (SCA10) is a dominantly inherited neurodegenerative disease caused by expansion of the ATTCT pentanucleotide repeat in intron 9 of a novel gene, ATXN10, on chromosome 22q13.3. It is clinically characterized by progressive ataxia, seizures, and anticipation, which can v...
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PMID: 19198092
PDF is available here.
PDF is available here.
Mutagenesis (23)5 2008
Abstract
Using single-molecule polymerase chain reaction, the frequency of spontaneous and radiation-induced mutation at an expanded simple tandem repeat (ESTR) locus was studied in DNA samples extracted from sperm and bone marrow of Atm knockout (Atm(+/-)) heterozygous male mice. The frequency of spontaneou...
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PMID: 18499649
PDF is available here.
PDF is available here.
Abstract
hypotonia, motor and language developmental delay, ventriculomegaly, subcortical white matter lesions, and craniosynostosis. Mutation analysis revealed 2 copies of expansion mutation of 1260 and 60 cytosine-thymine-guanine repeats in the myotonic dystrophy protein kinase gene. Both the mildly sympto...
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PMID: 18474935
PDF is available here.
PDF is available here.
Muscle & Nerve (38)1 2008
Abstract
We present a 51-year-old man with a family history of DM1 and fluctuating diplopia and ptosis, who was found to have acetylcholine receptor-binding antibodies, thymoma, and a clinical presentation compatible with ocular myasthenia gravis as well as positive genetic testing for DM1. Needle electromyo...
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PMID: 18563724
PDF is available here.
PDF is available here.
Abstract
The authors describe the case of an 8-year-old boy, otherwise healthy, who presented with symptoms consistent with attention-deficit hyperactivity disorder (ADHD) and was started on a trial of methylphenidate. Within 4 weeks, he experienced a rapid decline in fine motor skills, with dysarthria, inte...
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PMID: 18658080
PDF is available here.
PDF is available here.
Genome Research (18)7 2008
Abstract
Tandem repeats are common features of both prokaryote and eukaryote genomes, where they can be found not only in intergenic regions but also in both the noncoding and coding regions of a variety of different genes. The repeat expansion diseases are a group of human genetic disorders caused by long a...
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PMID: 18593815
PDF is available here.
PDF is available here.
Abstract
This study supports a role for MAPT in the pathogenesis of familial and idiopathic Parkinson disease (PD). Interestingly, the results of the gene expression studies suggest that other genes in the vicinity of MAPT, specifically STH and KIAA1267, may also have a role in PD and suggest complex effects...
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PMID: 18509094
PDF is available here.
PDF is available here.
Psychoneuroendocrinology (33)6 2008
Abstract
We investigated hypothalamic-pituitary-adrenal (HPA) axis regulation using a knock-in mouse model with an expanded CGG-repeat in the PM range (>98 repeats) in the Fmr1 gene, which shows repeat instability, and displays biochemical, phenotypic and neuropathological characteristics of FXTAS. We show e...
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PMID: 18472227
PDF is available here.
PDF is available here.
Abstract
There is strong evidence that the length of CAG repeats, in patients with Huntington's disease (HD), govern the age of onset and the rate of clinical progression of neurological symptoms. However, psychiatric manifestations of the disease have not been examined as comprehensively. Seventy two Greek...
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PMID: 17610899
PDF is available here.
PDF is available here.
Journal of Cell Science (121)Pt 11 2008
Abstract
We investigate the function of Nesprin-2 Giant (NUANCE) in skin by generating mice lacking the actin-binding domain of Nesprin-2 (Nesprin-2DeltaABD). This loss results in a slight but significant thickening of the epidermis, which is a consequence of the increased epithelial nuclear size. Nonetheles...
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PMID: 18477613
PDF is available here.
PDF is available here.
Molecular Microbiology (68)5 2008
Abstract
We show that T. brucei BRCA2 has undergone a recent, striking expansion in the number of BRC repeats, a sequence element that mediates interaction with RAD51. T. brucei BRCA2 mutants are shown to be significantly impaired in antigenic variation and display genome instability. By generating BRCA2 var...
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PMID: 18430140
PDF is available here.
PDF is available here.
Experimental Cell Research (314)8 2008
PABPN1 polyalanine tract deletion and long expansions modify its aggregation pattern and expression.
Abstract
We also show that even though five other proteins with polyalanine tracts tend to aggregate when over-expressed they do not co-aggregate with PABPN1 INIs. This study presents the first experimental evidence that there may be a relative loss of function in OPMD by decreasing the availability of PABPN...
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PMID: 18367172
PDF is available here.
PDF is available here.
Abstract
We evaluated 146 female carriers (mean, 42.3 years; range, 20-75 years) with and without core features of FXTAS (tremor; gait ataxia), and 69 age-matched controls (mean, 45.8 years; range, 21-78 years). Compared with controls, carriers with definite or probable FXTAS had greater medical co-morbidity...
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PMID: 18348275
PDF is available here.
PDF is available here.
Abstract
These data indicate that PHOX2B gene mutations should be systematically examined in any adult with unexplained central hypoventilation and raise the question of follow-up for apparently healthy parents found to harbor a somatic mosaic for the PHOX2B mutation identified in their child....
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PMID: 18079495
PDF is available here.
PDF is available here.
Abstract
We determined the presence of these features in 104 patients designated as having an unidentified myopathy from a series of 2,100 muscle biopsies. Because CCUG expansions form pathogenic ribonuclear accumulations that can be detected by in situ hybridization, we validated and then used automated (CC...
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PMID: 18379436
PDF is available here.
PDF is available here.
FASEB Journal (22)4 2008
Abstract
We identified a new molecular alteration that could account for gene dysregulation in these mice. Despite a nuclear activation of the mitogen-activated protein kinase/extracellular regulated kinase (ERK) along with Elk-1 and cAMP responsive element binding, two transcription factors involved in c-Fo...
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PMID: 18029446
PDF is available here.
PDF is available here.
Abstract
This report presents an otherwise healthy infant who developed unexplained apnea and long-segment Hirschsprung disease. After extensive evaluation that included a paired-like homeobox 2b gene (PHOX2B) analysis, he was found to have Haddad syndrome, a congenital disorder that features central congeni...
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PMID: 18230845
PDF is available here.
PDF is available here.
Abstract
Abstract
These results confirm that brain atrophy progresses after the clinical onset of HD and that regional atrophy is related to symptom severity. Moreover, our results also indicate that intensity and rate of progression of brain atrophy are more pronounced in patients with larger, expanded CAG repeat se...
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PMID: 17615168
PDF is available here.
PDF is available here.
Developmental Dynamics (237)2 2008
Abstract
We demonstrate that Mbnl2-deficient mice also develop myotonia and have skeletal muscle pathology consistent with human DM. We also find defective expression and mRNA splicing of the chloride channel (Clcn1) in skeletal muscle that likely contributes to the myotonia phenotype. Our results support th...
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PMID: 18213585
PDF is available here.
PDF is available here.
Journal of the Neurological Sciences (264)1-2 2008
Abstract
We suggest that myopathic changes in SBMA muscle are not only related to denervation and that muscle satellite cells may have a role in the pathogenesis of muscle damage....
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PMID: 17854832
PDF is available here.
PDF is available here.
Rinsho Shinkeigaku (48)1 2008
Abstract
We discuss several possible pathogenic mechanisms for SCA10, and growing number of evidence indicates a gain-of-function RNA mechanism, similar to the myotonic dystrophies caused by non-coding CTG or CCTG repeat expansions....
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PMID: 18386626
PDF is available here.
PDF is available here.
Movement Disorders (23)1 2008
Abstract
BMC Genomics (9)1 2008
Abstract
BACKGROUND: Variation in genomes among different closely-related organisms can be linked to phenotypic differences. A number of mechanisms, such as replication error, repeat expansion and contraction, recombination and transposition can contribute to genomic differences. These processes lead to gene...
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PMID: 18681951
PDF is available here.
PDF is available here.
BMC Biochemistry (9)1 2008
Abstract
Investigation of the chimeric proteins in vitro reveals that repeat-expansions increase aggregation propensity and that the kinetics of fiber formation depends on the number of repeats. The fiber formation reactions are promiscuous in that the chimeric protein containing 14 repeats can readily cross...
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PMID: 18366654
PDF is available here.
PDF is available here.
Neuroscience Letters (429)1 2007
Abstract
Our study failed to demonstrate an effect of large normal repeats on the susceptibility to develop ataxia....
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PMID: 17961920
PDF is available here.
PDF is available here.
Abstract
Abstract
We describe a case of transient monoclonal CD8+/CD57+ T-cell lymphocytosis with large granular lymphocyte (LGL) morphology occurring after primary CMV infection and review cases of virus-associated monoclonal CD8+ T-cell expansions reported in the literature. Several clinical features shared by viru...
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PMID: 17626255
PDF is available here.
PDF is available here.
Abstract
Abstract
Three French ADP families had SCA2 mutations. The expansions ranged from 37 to 39 repeats and were interrupted and stable upon transmission. All patients (n = 9) had levodopa-responsive parkinsonism without cerebellar signs. They had significantly more symmetric signs and less rigidity than ADP caus...
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PMID: 17568014
PDF is available here.
PDF is available here.
Abstract
We confirm these predictions. The wild-type ATX10 locus displays inefficient origin activity, but origin activity is elevated at the expanded ATX10 loci in patient-derived cells. To test whether (ATTCT)n tracts can potentiate origin activity, cell lines were constructed that contain ectopic copies o...
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PMID: 17846122
PDF is available here.
PDF is available here.
Molecular Cell (28)1 2007
Abstract
We demonstrate that expression of DMPK-CUG-repeat RNA results in hyperphosphorylation and stabilization of CUGBP1. CUGBP1 is hyperphosphorylated in DM1 tissues, cells, and a DM1 mouse model. Activation of PKC is required for CUGBP1 hyperphosphorylation in DM1 cells, and PKCalpha and betaII directly...
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PMID: 17936705
PDF is available here.
PDF is available here.
Abstract
We report the use of organically modified silica (ORMOSIL) nanoparticles as an efficient non-viral gene carrier in an effort to model brain pathology associated with those disorders induced by expanded polyQ peptides. In experiment 1, plasmids expressing Hemaglutinin-tagged polypeptides with 20 glut...
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PMID: 17655935
PDF is available here.
PDF is available here.
Virus Genes (35)1 2007
Abstract
We provide evidence that additional open reading frames (ORFs) in the RL regions differ significantly between the extremes of the pathotypes (attenuated vs. nonattenuated). A deletion of 10 base pairs has been identified in RLORF12 from two attenuated strains CVI988 BP-5, p48 and RM-1, p40; and the...
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PMID: 16964553
PDF is available here.
PDF is available here.
Abstract
We have analysed the mutation frequency at an expanded simple tandem repeat (ESTR) locus in the germline and bone marrow of the first-generation male offspring of control and irradiated male mice. The frequency of ESTR mutation was studied in the offspring of two reciprocal matings male symbol scid...
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PMID: 17237807
PDF is available here.
PDF is available here.
Human Molecular Genetics (16)13 2007
Abstract
We investigated the regulation of AR phosphorylation in order to understand factors that may modify SBMA disease progression. We show that expanded polyglutamine AR is phosphorylated by Akt. Substitution of the AR at two Akt consensus sites, S215 and S792, with aspartate, which mimics phosphorylatio...
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PMID: 17470458
PDF is available here.
PDF is available here.
Archives of Neurology (64)7 2007
Abstract
Three premutation carriers (61, 69, and 80 CGG repeats) were identified (0.33%), which is not significantly higher than the frequency of premutation alleles in the general population. The outcome of the current study, the largest screen of individuals with parkinsonism to date, supports previous scr...
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PMID: 17620491
PDF is available here.
PDF is available here.