Find your PDFs fast.
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.
Sequence Deletion (2):
Recent article
Sequence Deletion
Abstract
We identified a frameshift mutation within the open reading frame (ORF) encoding MCMV chemokine homologue MCK-2. This mutation would result in a truncated MCK-2 protein. When mice were infected with pSM3fr-derived virus, we observed reduced virus production in salivary glands, which could be reverte...
|
PMID: 21813614
PDF is available here.
PDF is available here.
| < More recent | Older article > |
Abstract
We show that MerTK is cleaved at proline 485 in murine macrophages. Site-directed deletion of 6 amino acids spanning proline 485 rendered MerTK resistant to proteolysis and suppression of efferocytosis by cleavage-inducing stimuli. LPS is a known inducer of MerTK cleavage, and the intracellular sign...
|
PMID: 21828049
PDF is available here.
PDF is available here.
Abstract
We recently characterized the interaction between the intraviral domains of envelope glycoproteins (Gn and Gc) and ribonucleoprotein (RNP) of Puumala and Tula hantaviruses (genus Hantavirus, family Bunyaviridae). Herein we report a direct interaction between spike-forming glycoprotein and nucleic ac...
|
PMID: 21807393
PDF is available here.
PDF is available here.
Mitochondrion (11)4 2011
Abstract
We have generated a cell line, EB delta1, with multiple mtDNA deletions, that is respiration-defective and generates high levels of superoxide, a reactive oxygen species. Treatment of EB delta1 with tagged polycistronic (pc) RNAs, encoding parts of the mitochondrial proteome, bound to a multi-subuni...
|
PMID: 21496501
PDF is available here.
PDF is available here.
Mitochondrion (11)4 2011
Abstract
Mutations in mitochondrial DNA (mtDNA) generate multi-system disorders due to failure of ATP production. A cybrid containing a 1.9-kb mtDNA deletion from a patient with Kearns Sayre Syndrome is respiration-defective and grows glycolytically. When treated with a ribonucleoprotein (RNP...
|
PMID: 21406250
PDF is available here.
PDF is available here.
Abstract
We describe a facile method to identify and analyze recombinant alleles in patients with Gaucher disease. Genomic DNA from 20 patients with recombinant GBA alleles and five controls was evaluated to identify DNA rearrangements or copy number variation using six probes specific for either the GBA gen...
|
PMID: 21704274
PDF is available here.
PDF is available here.
Abstract
Abstract Salmonella enterica subspecies enterica serotype 4,[5],12:i:- is an emerging serovar considered as a monophasic variant of Salmonella enterica serotype Typhimurium. The antigenic and genetic similarity between Salmonella 4,[5],12:i:- and Salmonella Typhimurium suggests that...
|
PMID: 21247297
PDF is available here.
PDF is available here.
Abstract
We have previously shown that RAD50 is involved in mitotic nonhomologous integration but not in homologous integration. However, the role of Rad50 in nonhomologous integration has not previously been examined. In the current work, we report that the rad50∆ mutation caused a tenfold decrease in the...
|
PMID: 21512733
PDF is available here.
PDF is available here.
PLoS Pathogens (7)6 2011
Abstract
Cyclic dimeric GMP (c-di-GMP) is a bacterial second messenger that modulates many biological processes. Although its role in bacterial pathogenesis during mammalian infection has been documented, the role of c-di-GMP in a pathogen's life cycle within a vector host is less understood....
|
PMID: 21738477
PDF is available here.
PDF is available here.
FEMS Yeast Research (11)3 2011
Abstract
We isolated P. guilliermondii mutants overproducing riboflavin. Analysis of nucleotide sequence of recombination sites revealed that insertion cassettes integrated into the genome disrupting P. guilliermondii genes similar to the VMA1 gene of Ashbya gossypii and Saccharomyces cerevisiae and FES1 and...
|
PMID: 21261808
PDF is available here.
PDF is available here.
Genetika (Moskva) (47)5 2011
Abstract
The earlier identified gene RAD31 was mapped on the right arm of chromosome II in the region of gene MEC1 localization. Epistatic analysis demonstrated that the rad31 mutation is an allele of the MEC1 gene, which allows further designation of the rad31 mutation as mec1-212. Mutation mec1-212, similar...
|
PMID: 21786666
PDF is available here.
PDF is available here.
Abstract
The identification of patients with inherited cancer susceptibility syndromes facilitates early diagnosis, prevention, and treatment. However, in many cases of suspected cancer susceptibility, the family history is unclear and genetic testing of common cancer susceptibility genes is...
|
PMID: 21505135
PDF is available here.
PDF is available here.
Cell Host & Microbe (9)4 2011
Abstract
We show that the Leishmania protease GP63 cleaves the mammalian/mechanistic target of rapamycin (mTOR), a serine/threonine kinase that regulates the translational repressor 4E-BP1. mTOR cleavage results in the inhibition of mTOR complex 1 (mTORC1) and concomitant activation of 4E-BP1 to promote Leis...
|
PMID: 21501832
PDF is available here.
PDF is available here.
Abstract
We performed autozygosity mapping in five consanguineous families without RAB3GAP1/2 mutations and identified loss-of-function mutations in RAB18. A c.71T > A (p.Leu24Gln) founder mutation was identified in four Pakistani families, and a homozygous exon 2 deletion (predicted to result in a frameshif...
|
PMID: 21473985
PDF is available here.
PDF is available here.
Abstract
We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SR...
|
PMID: 21473986
PDF is available here.
PDF is available here.
Abstract
We previously showed that Dicer, an RNaseIII endonuclease required for microRNA (miRNA) biogenesis, is absolutely essential for Sertoli cells to mature, survive, and ultimately sustain germ cell development. Here, using isotope-coded protein labeling, a technique for protein relative quantification...
|
PMID: 20467044
PDF is available here.
PDF is available here.
Abstract
We screened 125 primary tumors for RAF fusion genes and mutations in KRAS, NRAS, HRAS, PTPN11, BRAF and RAF1. Using microarray-based comparative genomic hybridization (aCGH), we identified in three cases an interstitial deletion of ~2.5 Mb as a novel recurrent mechanism forming BRAF gene fusions wit...
|
PMID: 21424530
PDF is available here.
PDF is available here.
Abstract
The STS markers prescribed by EAA detected deletions in only 6 (3%) of 200 infertile males. However, markers selected from previous Indian studies showed deletions in an additional 15 (7.5%) of infertile males. Overall, Y chromosome microdeletions were observed in 21 (10.5%) of 200 patients. Of thes...
|
PMID: 21375402
PDF is available here.
PDF is available here.
Abstract
We report here that the two most common types--follicular lymphoma and diffuse large B-cell lymphoma--harbour frequent structural alterations inactivating CREBBP and, more rarely, EP300, two highly related histone and non-histone acetyltransferases (HATs) that act as transcriptional co-activators in...
|
PMID: 21390126
PDF is available here.
PDF is available here.
Abstract
We identify molecular events particularly likely to produce significant regulatory changes in humans: complete deletion of sequences otherwise highly conserved between chimpanzees and other mammals. We confirm 510 such deletions in humans, which fall almost exclusively in non-coding regions and are...
|
PMID: 21390129
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1809)3 2011
Abstract
We cloned 1509bp of the 5'-flanking sequence of this gene. Deletion analysis showed that the region between -113 and -70 is essential for the basal level expression of the DRG2 gene in K562 human erythroleukemic cells. Mutation of a putative stimulating protein 1 (Sp1) regulatory site located at pos...
|
PMID: 21296692
PDF is available here.
PDF is available here.
Abstract
The involvement of oxidant/antioxidant imbalance in the development of inflammatory bowel disease (IBD) is well documented. Two members of the glutathione S-transferase (GST) family of enzymes, GSTM1 and GSTT1, known to take part in cellular protection against electrophiles, demonstrate common deleti...
|
PMID: 21243434
PDF is available here.
PDF is available here.
Abstract
We report that, in fact, we have detected mitochondrial damage only in primary open-angle glaucoma and pseudo-exfoliation glaucoma, among several glaucoma types compared....
|
PMID: 21283745
PDF is available here.
PDF is available here.
Abstract
We report a dystrophinopathy patient who has a point mutation in exon 31 of the dystrophin gene. Although the mutation generates a stop codon, a small amount of internally deleted, but functional, dystrophin protein is produced in the patient cells. An analysis of the mRNA reveals that the mutation...
|
PMID: 21556062
PDF is available here.
PDF is available here.
Abstract
We provided genetic evidences demonstrating that 1) the SL2 in type II PRRSV 5' UTR, N-SL2, could be structurally and functionally substituted by its counterpart in type I PRRSV, E-SL2; 2) the functionality of N-SL2 was dependent upon the G-C rich stem structure, while the ternary-loop size was irre...
|
PMID: 21496223
PDF is available here.
PDF is available here.
Abstract
We have designed Met35Nle and G37p mutations in the Aβ(42) peptide (Aβ(42)Nle35p37) that appear to organize Aβ(42) into stable oligomers. 2D NMR on the Aβ(42)Nle35p37 peptide revealed the occurrence of two β-turns in the V24-N27 and V36-V39 stretches that could be the possible cause for the oli...
|
PMID: 21799748
PDF is available here.
PDF is available here.
Abstract
We determined the genomic distribution of Tup1 and Ssn6 by ChIP-chip. We found that most loci bound by Tup1-Ssn6 could not be explained by co-occupancy with a known recruiting cofactor and that deletion of individual known Tup1 recruiters did not significantly alter the Tup1 binding profile. These o...
|
PMID: 21552514
PDF is available here.
PDF is available here.
Abstract
The analysis of nucleotide sequences suggested that vRNA length is a variable factor among primary strains, while the phylogenetic analysis suggests selective pressure for change. The G gene showed the greatest sequence variation (2-6.4%), while small hydrophobic protein and matrix genes were comple...
|
PMID: 21794174
PDF is available here.
PDF is available here.
Abstract
We have used XerCD/dif recombination as a genetic trap to probe the interaction of FtsK with loci located in different regions of the chromosome. This assay revealed that the activity of FtsK is restricted to a ∼400 kb terminal region of the chromosome around the natural position of the dif site....
|
PMID: 21799784
PDF is available here.
PDF is available here.
Abstract
We tested this genotyping system for molecular epidemiological analysis of 369 M. tuberculosis isolates from 3 regions of Brazil, a high TB-burden country. Deligotyping, targeting 43 large sequence polymorphisms (LSPs), and the MIRU-VNTRplus identification database were used to assess phylogenetic p...
|
PMID: 21464915
PDF is available here.
PDF is available here.
Abstract
We present evidence that ARFGAP1 not only serves as a GAP for ARF1, but also can affect the actin cytoskeleton.
As cells attach to a culture dish foci of actin appear prior to the cells flattening and spreading. We have observed that overexpression of a truncated ARFGAP1 that lacks c...
|
PMID: 21483700
PDF is available here.
PDF is available here.
Abstract
We report five cases of patients with a never-smoking adenocarcinoma of the lung with such a pattern of metastases. In the tumor cells of all five patients, epidermal growth factor receptor (EGFR) mutation gene sequencing identified a deletion in exon 19 of the EGFR gene, and all five patients had a...
|
PMID: 21178715
PDF is available here.
PDF is available here.
Virology Journal (8)1 2011
Abstract
We used IFN-α resistant HCV replicon cell lines and an infectious HCV cell culture system to elucidate the mechanisms of IFN-α resistance in cell culture. The IFN-α resistance mechanism of the replicon cells were addressed by a complementation study that utilized the full-length plasmid clones of...
|
PMID: 21756311
PDF is available here.
PDF is available here.
Abstract
We have accomplished thermodynamic analysis of mouse TREK-1 gating and functional testing of several deletion mutants. The predicted increase of the channel in-plane area (ΔA) of ~5 nm(2) in models was supported by the experimental ΔA of ~4 nm(2) derived from the slope of open probability versus m...
|
PMID: 21057213
PDF is available here.
PDF is available here.
DNA Repair (10)1 2011
Abstract
We found that nearly all DSBs are converted to CRBs in cells lacking both exonuclease 1 (EXO1) activity and MRX complex. Thus, it appears that some feature of exonuclease processing or resection at a DSB is critical for maintaining broken chromosome ends in close proximity. In addition, we discovere...
|
PMID: 21115410
PDF is available here.
PDF is available here.
DNA Repair (10)1 2011
Abstract
We found that nearly all DSBs are converted to CRBs in cells lacking both exonuclease 1 (EXO1) activity and MRX complex. Thus, it appears that some feature of exonuclease processing or resection at a DSB is critical for maintaining broken chromosome ends in close proximity. In addition, we discovere...
|
PMID: 21115410
PDF is available here.
PDF is available here.
Cytometry Part B (80)1 2011
Abstract
We previously generated an antihuman SAP monoclonal antibody (KST-3) for a flow cytometric assay and described the activation of T cells to be necessary for the flow cytometric assessment of the SAP expression using an FITC-conjugated secondary antibody.
Between 2005 and 2008, we rec...
|
PMID: 20632414
PDF is available here.
PDF is available here.
Abstract
We provide evidence that the Saccharomyces cerevisiae protein encoded by the open reading frame, YNL305C, is a bona fide homolog for BI-1. First, we confirm that yeast cells from two different strain backgrounds lacking YNL305C, which we have renamed BXI1, are more sensitive to heat-shock induced ce...
|
PMID: 21673967
PDF is available here.
PDF is available here.
Abstract
These results indicate that, although TK activity is required for reactivation of TK(+)/ACV(s) HSV-1 from latency and TK(-)/ACV(r) HSV-1 is unable to reactivate from latency, the TK(-)/ACV(r) HSV-1 strain isolated herein reactivated in this patient, possibly by using the TK activity induced by the l...
|
PMID: 21519125
PDF is available here.
PDF is available here.
Abstract
A series of protocols are presented for the storage, growth, transformation, and characterization of wild type and mutant strains of Synechocystis sp. strain PCC 6803. These protocols include the isolation of genomic DNA and the strategies required for the construction of specific gene interruptions...
|
PMID: 20960137
PDF is available here.
PDF is available here.
Biochimica et Biophysica Acta (1814)3 2011
Abstract
We divided the structure of CITase into five regions from the N terminus to the C terminus: an N-terminal conserved region (Ser1-Gly403), an insertion region (R1; Tyr404-Tyr492), two conserved regions (R2; Glu493-Ser596 and R3; Gly597-Met700), and a C-terminal variable region (R4; Lys701-Ser934). CI...
|
PMID: 21193067
PDF is available here.
PDF is available here.
Abstract
We have examined the role of recombination at the telomeres of the yeast Kluyveromyces lactis. We demonstrate that an abnormally long and mutationally tagged telomere was subject to high rates of telomere rapid deletion (TRD) that preferentially truncated the telomere to near wild type size. Unlike...
|
PMID: 21148753
PDF is available here.
PDF is available here.
Abstract
We revealed that GST-fused Sp1 protein bound to endogenous importin α in HeLa cells via the Sp1 zinc finger domains, which comprise the DNA binding domain of Sp1. It was found that the Sp1 zinc finger domains directly interacted with a wide range of importin α including the armadillo (arm) repeat...
|
PMID: 20946882
PDF is available here.
PDF is available here.
Abstract
We performed chromatin immunoprecipitation (ChIP) analysis, double-immunostaining, a luciferase reporter assay, and an in utero electroporation study. ChIP analysis showed that endogenous NR6A1 binds to a putative NR6A1-binding site. Double-immunostaining indicated almost all hypocretin neurons were...
|
PMID: 21056546
PDF is available here.
PDF is available here.
Molecular characteristics of "Mycobacterium canettii" the smooth Mycobacterium tuberculosis bacilli.
Abstract
We have collected 59 SmTB isolates of which 14 were newly recovered since previous reports, and performed extensive phenotypical and genotypical characterization. We take advantage of these investigations to review the current knowledge of "M. canettii". Their characteristics and the apparent lack o...
|
PMID: 20692377
PDF is available here.
PDF is available here.
Abstract
We have generated a T1R2-LacZ reporter knock-in mouse to investigate tissue distribution of T1R2 at a single-cell level. We found that the LacZ gene expression in these mice was faithful to the expression of T1R2 in the taste tissue and in the gastrointestinal tract where T1R3 expression has been re...
|
PMID: 20965149
PDF is available here.
PDF is available here.
Journal of Biological Chemistry (285)46 2010
Abstract
The deletion of phenylalanine 508 in the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator is directly associated with >90% of cystic fibrosis cases. This mutant protein fails to traffic out of the endoplasmic reticulum and is subsequently degraded by the pro...
|
PMID: 20667826
PDF is available here.
PDF is available here.
Abstract
We determined that posttranslational modification and expression of amino-acid sequence variants change as a function of biofilm maturation. For Cytochrome₅₇₉ (Cyt₅₇₉), the most abundant cytochrome in the biofilms, late developmental-stage biofilms differed from early-stage biofilms in N...
|
PMID: 20485387
PDF is available here.
PDF is available here.
Abstract
Noninvasive prenatal diagnosis based on detection of fetal cell-free DNA is hampered when mother and father are both carriers for the same autosomal recessive mutation.
To compare the diagnosis of Bart's hydrops fetalis using conventional Gap-PCR analysis of fetal cells/tissues with the measurement...
|
PMID: 21114201
PDF is available here.
PDF is available here.
Chemical Communications (46)40 2010
Abstract
Ferrocene-modified DNA probes formed fully matched duplexes and bulge-containing ones with wild-type and insertion/deletion-type complements of clinical importance, respectively. Cyclic voltammetry measurements revealed that the bulge-containing duplexes showed an increased flexibility compared to t...
|
PMID: 20852766
PDF is available here.
PDF is available here.
Cancer Research (70)20 2010
Abstract
We show that ADAM9-S promotes breast cancer cell migration in a manner requiring its metalloproteinase activity, whereas ADAM9-L suppresses cell migration independent of its metalloproteinase activity. Suppression of migration by ADAM9-L requires a functional disintegrin domain and integrin binding....
|
PMID: 20736367
PDF is available here.
PDF is available here.
Biotechnology Letters (32)10 2010
Abstract
A 1681 bp PsPR10 promoter was isolated from Pinus strobus and a series of 5'-deletions were fused to the β-glucuronidase (GUS) reporter gene and introduced into tobacco. GUS activity in P796 (-796 to +69) construct transgenic plant roots was similar with that of P1681 and higher than those of the P...
|
PMID: 20495947
PDF is available here.
PDF is available here.
Abstract
We evaluated the role of gE-2 in the virus lifecycle by deleting amino acids 124-495 (gE2-del virus). In the mouse retina infection model, gE2-del virus does not spread to nuclei in the brain, indicating a defect in anterograde (pre-synaptic to post-synaptic neurons) and retrograde (post-synaptic to...
|
PMID: 20598729
PDF is available here.
PDF is available here.
Abstract
Our recent study demonstrated that K5 suppressed hepatocarcinoma growth by anti-angiogenesis. To find high efficacy and minimal peptide sequence required for the anti-angiogenic and anti-tumour activities of K5, two deletion mutants of K5 were generated. The amino acid residues outside kringle domai...
|
PMID: 20050964
PDF is available here.
PDF is available here.
Genetics in Medicine (12)10 2010
Abstract
The short arm of chromosome 16 is rich in segmental duplications, predisposing this region of the genome to a number of recurrent rearrangements. Genomic imbalances of an approximately 600-kb region in 16p11.2 (29.5-30.1 Mb) have been associated with autism, intellectual disability, congenital anoma...
|
PMID: 20808231
PDF is available here.
PDF is available here.
Abstract
We used a recently developed indel-simulation program to examine the false-positive rate and power of the branch-site test. We find that insertions and deletions do not cause excessive false positives if the alignment is correct, but alignment errors can lead to unacceptably high false positives. Of...
|
PMID: 20447933
PDF is available here.
PDF is available here.
Current Genetics (56)5 2010
Abstract
We suggest that decreased stability of Tra1-L3733A accounts for the phenotypes since intragenic suppressors of tra1-L3733A restored Tra1 levels, and reducing wild-type Tra1 led to comparable growth defects. Also supporting a key role for the FATC domain in the structure/function of Tra1, addition of...
|
PMID: 20635087
PDF is available here.
PDF is available here.
Genetika (Moskva) (46)10 2010
Abstract
Autism is one of the most widely spread mental diseases among children. Different genetic anomalies make a considerable contribution to the etiology of this disease; therefore, the identification of candidate genes of autism can be regarded as a topical task of modern medical genetics. The molecular...
|
PMID: 21254553
PDF is available here.
PDF is available here.
Abstract
I small heat shock protein (sHSP-CI) genes were found to be selectively induced by L-azetidine-2-carboxylic acid (AZC) on chromosome 3 but not chromosome 1. Here it is shown that a novel cis-responsive element contributed to the differential regulation. By serial deletion and computational analysis,...
|
PMID: 20643810
PDF is available here.
PDF is available here.
Abstract
While morphology, immunophenotyping, cytogenetics, and clinical history continue to play an important role, an increasing number of molecular tests are now required to properly classify these cases....
|
PMID: 20923295
PDF is available here.
PDF is available here.