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INDEL Mutation (0):
Recent article
INDEL Mutation
Abstract
The amount of a genome's sequence that is functional has been surprisingly difficult to estimate accurately. This has severely hindered analyses asking whether the amount of functional genomic sequence correlates with organismal complexity. Most studies estimate these amounts by cons...
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PMID: 21721940
PDF is available here.
PDF is available here.
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PLoS Biology (9)6 2011
Abstract
We employ population genomics data from Escherichia coli, Saccharomyces paradoxus, and Drosophila to provide evidence suggesting that it is not the indels per se but the sequence in which indels occur that causes the accumulation of nucleotide substitutions. We found that about two-thirds of indels...
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PMID: 21697975
PDF is available here.
PDF is available here.
Abstract
Vitiligo is a depigmenting skin disorder with profound heterogenity in its aetio-pathophysiology, and is associated with inter-individual variation in progression of disease. Angiotensin converting enzyme (ACE) is a regulator of renin angiotensin system (RAS) that plays an important role in the physi...
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PMID: 21382792
PDF is available here.
PDF is available here.
Fungal Biology (115)4-5 2011
Abstract
A new method based on the analysis of mitochondrial intergenic regions characterized by intraspecific variation in DNA sequences was developed and applied to the study of the plant pathogen Phytophthora nicotianae. Two regions flanked by genes trnY and rns and trnW and cox2 were iden...
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PMID: 21530925
PDF is available here.
PDF is available here.
Thrombosis and Haemostasis (104)5 2010
Abstract
We demonstrate that common polymorphisms within the PAI-1 promoter affect transcriptional activity of the PAI-1 gene in human astrocytes, thus providing a possible molecular genetic mechanism behind the association between PAI-1 promoter variants and ischaemic stroke....
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PMID: 20806116
PDF is available here.
PDF is available here.
Abstract
We therefore examined chromosomes with insertions and found that they preferentially segregated away from the X chromosome during meiosis in Caenorhabditis elegans males. Conversely, chromosomes with deletions preferentially segregated with the X chromosome. The degree of segregation bias was signif...
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PMID: 20647459
PDF is available here.
PDF is available here.
Abstract
We included 194 first-ever stroke patients of whom information about APOE genotyping and ACE-I/D polymorphism was available in 92 and 129 patients, respectively. Patients were cognitively assessed at 1, 6, 12 and 24 months after the event. Linear mixed models with slope estimates were used to study...
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PMID: 20606435
PDF is available here.
PDF is available here.
Plant Cell Reports (29)6 2010
Abstract
These results suggest that the single point mutation is most likely responsible for the glabrous leaf and hull phenotypes in rice....
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PMID: 20376671
PDF is available here.
PDF is available here.
Abstract
We studied 10 patients from 8 families with BSS. Analysis of germline mutations of the CYLD gene was performed using either peripheral blood or nontumorous tissue. In addition, 19 formalin-fixed paraffin-embedded tumor samples were analyzed for somatic mutations, including loss of heterozygosity stu...
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PMID: 20502185
PDF is available here.
PDF is available here.
Abstract
1) The positive relationship previously found between the percentage of homoplasy and genome size is a direct consequence of the number of observed bands and the GC content. For the same number of observed bands, the percentage of homoplasy is independent of the genome size of the species. 2) The di...
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PMID: 20056690
PDF is available here.
PDF is available here.
Abstract
The present study examined the association between the angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism, physical activity, and resting blood pressure (BP) in a sample of 132 children (48.4% female). Children attaining 60 min/day of moderate-to-vigorous physical activity (MV...
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PMID: 20567050
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
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PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
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PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
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PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
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PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
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PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
|
PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
|
PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
|
PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
|
PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
|
PMID: 20033839
PDF is available here.
PDF is available here.
Virus Genes (40)2 2010
Abstract
The genetic diversity of the coat-protein (CP) region and the untranslated C-terminal region (3'UTR) of Maize dwarf mosaic virus (MDMV) was analyzed to evaluate the variability between isolates (inter-isolate sequence diversity). The results of inter-isolate sequence diversity analys...
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PMID: 20033839
PDF is available here.
PDF is available here.
Abstract
To test the hypothesis that a 44-base-pair insertion/deletion polymorphism in the 5' regulatory region of the serotonin transporter gene (5-HTTLPR) is associated with primary insomnia.
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PMID: 20337192
PDF is available here.
PDF is available here.
Abstract
Wilms tumor is one of the most common pediatric malignant tumors of the kidney. Although the WT1 gene, located at 11p13, has been proven to be implicated in the development of Wilms tumor, other genes such as MYCN are also involved. The purpose of this study is to genetically characterize a Wilms tu...
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PMID: 20186010
PDF is available here.
PDF is available here.
Abstract
I allele (P = 0.0474) and genotypes containing the I allele (P = 0.0195), respectively, was observed. The present results provide further support for a potentially male-specific role of the less active ACE I allele in the pathogenesis of panic disorder, possibly by altering substance P levels....
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PMID: 20146651
PDF is available here.
PDF is available here.
Abstract
We report a genome-wide survey of DNA polymorphisms in the B. rapa genome based on the 557 bacterial artificial clone sequences of B. rapa ssp. pekinensis cv. Chiifu. We identified and characterized 21,311 SNPs and 6,753 InDels in the gene space of the B. rapa genome by re-sequencing 1,398 sequence-...
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PMID: 20024583
PDF is available here.
PDF is available here.
Abstract
We expanded the ABCC6 mutation spectrum with 9 novel deletions and characterized 25% of unidentified disease alleles. Our results further illustrate the instability of the ABCC6 genomic region and stress the importance of screening for deletions in the molecular diagnosis of PXE....
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PMID: 20075945
PDF is available here.
PDF is available here.
Abstract
Carriage frequencies of alleles and genotypes of functionally important polymorphous loci of some inflammation genes: proinflammatory cytokines genes IL-6, LTA and TNF, anti-inflammatory cytokine gene TGFB1 and CC chemokine receptor 5 gene CCR5 were analyzed in the patients with myocardial infarctio...
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PMID: 20608170
PDF is available here.
PDF is available here.
Abstract
Genetic polymorphisms in the glycogen debrancher enzyme (AGL) gene were assessed with regard to their association with growth and carcass traits in the F(2) population crossbred Landrace and Jeju (Korea) Black pig. Three genotypes representing the insertion and/or deletion (indel) polymorphisms of s...
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PMID: 19649726
PDF is available here.
PDF is available here.
Angiotensin-converting enzyme gene polymorphism is associated with type 2 diabetes: a meta-analysis.
Abstract
We performed a meta-analysis on recent previous reports on ACE gene polymorphism and its correlation to type 2 diabetes. A total of 15,166 subjects from 24 studies were included in this meta-analysis. Summary odds ratios (ORs) were estimated. Potential sources of heterogeneity and bias were explored...
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PMID: 19655271
PDF is available here.
PDF is available here.
Abstract
Surfactant protein-B 121ins2 heterozygosity is associated with reduced lung function and increased risk for COPD among smokers....
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PMID: 19833825
PDF is available here.
PDF is available here.
Abstract
We examined the relationship between a patient group with obstructive sleep apnea syndrome (OSAS) and a control group in terms of I/D polymorphism of the ACE gene. We examined 64 patients, with 37 individuals serving as the control group. PCR was used to detect ACE I/D gene polymorphism. Genotype wa...
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PMID: 20449805
PDF is available here.
PDF is available here.
Abstract
We developed a panel of 40 multiplexed short insertion-deletion (indel) polymorphic loci with widespread chromosomal locations and allele frequencies close to 0.50 in the European population. We genotyped these markers in 360 unrelated self-classified White Brazilians and 50 mother-child-probable fa...
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PMID: 20391344
PDF is available here.
PDF is available here.
BMC Genomics (11) 2010
Abstract
We report the distribution of these two types of sRNAs among the different classes of wheat TEs, the regions targeted within the TEs, and their impact on the methylation patterns of the targeted regions.
We constructed an sRNA library from hexaploid wheat and developed a database that included our l...
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PMID: 20584339
PDF is available here.
PDF is available here.
Pediatric Research (66)6 2009
Abstract
We tested this association in an independent dataset: 137 autopsied cases (78 SIDS, 59 controls) and an additional 296 control DNA samples from Coriell Cell Repositories. In addition to the c.128-(191_192)dupA variant, we observed an associated single-base deletion [c.128-(301-306)delG] in a subset...
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PMID: 19707175
PDF is available here.
PDF is available here.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia (20)6 2009
Abstract
Type-2 diabetes mellitus (T2DM) is a chronic disorder characterized by a varying range of predominant insulin resistance with relative insulin deficiency, to predominant insulin secretory defect with or without insulin resistance. Familial clustering as well as epidemiological studies has shown that...
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PMID: 19861867
PDF is available here.
PDF is available here.
Abstract
We identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy. Muscle hypertrophy, muscle mounding, mild metabolic complications, and elevated serum creatine kinase levels were observed in these patients. Skeletal muscle biopsie...
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PMID: 19726876
PDF is available here.
PDF is available here.
Journal of Hypertension (27)9 2009
Abstract
For 24-h pulse pressure and waist/hip ratio, LOD [logarithm of the odds (to the base 10)] scores of more than two were found between 107 and 122 cM on chromosome 2. For the composite sum of MetS phenotypes, LOD score of more than 1 was found between 116 and 120 cM. There was no difference between ca...
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PMID: 19593211
PDF is available here.
PDF is available here.
Abstract
I allele frequency was 0.57. The G2350A polymorphism was found to be significantly associated with hypertension chi(2) (2df, chi(2) = 28.4, P
PDF is available here.
PDF is available here.
Abstract
We examined variation in thermally stressed walking behavior and performance in natural Drosophila melanogaster strains and strains mutant for the heat shock protein Hsp70, to determine which aspects of locomotion are affected by heat shock and genotype. We developed software for the large-scale cap...
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PMID: 19242787
PDF is available here.
PDF is available here.
Abstract
Progress has been made towards ascertaining the genetic predictors of ovarian stimulation in IVF. Aromatase cytochrome P450, encoded by the CYP19A1 gene, catalyses a key step in ovarian oestrogen biosynthesis. Hence, the aromatase gene is an attractive candidate for genetic studies. This study aimed...
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PMID: 19549443
PDF is available here.
PDF is available here.
Genetika (Moskva) (45)4 2009
Abstract
The aim of the present study was to identify deletion/insertion polymorphism of the bovine prion protein (PRNP) gene within the promoter sequence (23 bp indel), intron 1 (12 bp indel) and the 3' end untranslated region (14 bp indel). The experiment was performed on three groups of animals protected...
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PMID: 19507705
PDF is available here.
PDF is available here.
Human Genetics (125)3 2009
Abstract
Clinica Chimica Acta (400)1-2 2009
Abstract
Frequencies of (TATC)(2) allele and (TATC)(2)/(TATC)(2) genotype were significantly different from that in healthy controls (P = 0.045, OR = 1.356, 95% CI = 1.006-1.827 and P = 0.021, OR = 2.094, 95% CI = 1.113-3.940, respectively). No significant differences in CAA insertion/deletion genotype and a...
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PMID: 18948092
PDF is available here.
PDF is available here.
Abstract
The NFKBIA 3'UTR GG genotype was associated with an increased risk for extensive colitis in Hungarian patients. In contrast, variant alleles did not predict response to medical therapy or need for surgery....
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PMID: 18716880
PDF is available here.
PDF is available here.
Abstract
To investigate the association between polymorphisms of the COL1A1 gene and liver cirrhosis. A total of 111 liver cirrhotic patients and 95 matched controls were recruited. Polymorphisms -1997T>G, -1663 ins/del T and -1363C>G of the COL1A1 gene were detected by direct sequencing. The activities of t...
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PMID: 18536987
PDF is available here.
PDF is available here.
Abstract
We have previously shown that env V4 from HIV-1 plasma RNA is highly heterogeneous within a single patient, due to indel-associated polymorphism. In this study, we have analyzed the variability of V4 in proviral DNA from unfractionated PBMC and sorted T and non-T cell populations within individual p...
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PMID: 19239359
PDF is available here.
PDF is available here.
Journal of Hypertension (27)2 2009
Abstract
The I/I genotype of the UCP2 45 bp insertion/deletion polymorphism was associated with relatively higher blood pressure and HRV sympathetic indices (low frequency percentage and low frequency:high frequency ratio) at supine rest. For the -55C/T polymorphism of UCP3, individuals carrying the -55T all...
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PMID: 19155787
PDF is available here.
PDF is available here.
Abstract
We synthesize recent work documenting evidence of African population structure and discuss the implications for inferences about evolutionary history in both African populations and anatomically modern humans as a whole....
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PMID: 20453204
PDF is available here.
PDF is available here.
Abstract
Analysis of genetic predisposition to cancer can provide valuable information for early cancer detection or even prevention. Insertion 5382insC in BRCA1 gene is the most frequent mutation among those associated with high risk of breast cancer in women of East European origin. The method of 5382insC...
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PMID: 20088375
PDF is available here.
PDF is available here.
AADE editors' journal (73)Pt 1 2009
Abstract
We examined 772 STRs, 210 diallelic indels, and 2834 SNPs typed in 53 human populations worldwide under the HGDP-CEPH Diversity Panel to determine to which extent allele frequency differs among four regions (Africa, Eurasia, East Asia, and America). We find that large allele frequency differences be...
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PMID: 19040659
PDF is available here.
PDF is available here.
Nucleic Acids Research (37)Database issue 2009
Abstract
The TcSNP database (http://snps.tcruzi.org) integrates information on genetic variation (polymorphisms and mutations) for different stocks, strains and isolates of Trypanosoma cruzi, the causative agent of Chagas disease. The database incorporates sequences (genes from the T. cruzi reference genome,...
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PMID: 18974180
PDF is available here.
PDF is available here.
Nucleic Acids Research (37)Database issue 2009
Abstract
FLYSNPdb provides high-resolution single nucleotide polymorphism (SNP) data of Drosophila melanogaster. The database currently contains 27,367 polymorphisms, including >3700 indels (insertions/deletions), covering all major chromsomes. These SNPs are clustered into 2238 markers, which are evenly dis...
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PMID: 18784187
PDF is available here.
PDF is available here.
Abstract
International standardization and coordination of the nomenclature of variants of hepatitis C virus (HCV) is increasingly needed as more is discovered about the scale of HCV-related liver disease and important biological and antigenic differences that exist between variants. Consistency in numbering...
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PMID: 19009252
PDF is available here.
PDF is available here.
Abstract
We prepared complete sequences of the CCTeta gene from 36 piroplasms and compared the phylogenetic trees. The B. microti-group parasites clustered in a monophyletic assemblage separate from the Babesia sensu stricto and Theileria genera and subdivided predominantly into 4 clades (U.S., Kobe, Hobetsu...
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PMID: 19194077
PDF is available here.
PDF is available here.
Genome Biology (10)8 2009
Abstract
This work provides the first single cattle genome by next-generation sequencing. The chosen approach - low to medium coverage re-sequencing - added more than 2 million novel SNPs to the currently publicly available SNP resource, providing a valuable resource for the construction of high density olig...
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PMID: 19660108
PDF is available here.
PDF is available here.
BMC Genomics (10)1 2009
Abstract
Among HCE pairs, we found that some consistently preserve highly conserved interval distance among genomes while others have relatively low distance conservation. Using a partition method, we detected two groups of inter-HCE regions (IHRs) with distinct distance conservation pattern in vertebrate ge...
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PMID: 19323843
PDF is available here.
PDF is available here.
BMC Medical Genetics (10)1 2009
Abstract
Sequence analyses of the SETX gene in four patients revealed a heterozygous nonsense mutation or a 4 bp deletion in three cases. In another patient, PCR amplification of exon 11 to 15 dropped out. Dosage analyses and breakpoint localisation yielded a 1.3 kb LINE1 insertion in exon 12 (patient P1) an...
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PMID: 19744353
PDF is available here.
PDF is available here.
BMC Medical Genetics (10)1 2009
Abstract
The frequencies of the D allele and the genotypic distributions (DD, ID and II) in the women with PCOS did not differ from those in controls (P = 0.458). However, there were significant differences in the concentrations of testosterone among three genotypes both in the PCOS patients and controls (P...
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PMID: 19602270
PDF is available here.
PDF is available here.
BMC Genomics (10)1 2009
Abstract
Specifically, we identified 6,279 indels of 10 bp or greater in a ~33 Mb alignment between human and chimpanzee chromosome 22. After the exclusion of those in repetitive DNA, 1,429 or 23% of indels still remained. This group was characterized according to the local or genome-wide repetitive nature,...
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PMID: 19171065
PDF is available here.
PDF is available here.