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  • SNPs
  • Now, the goal of the study is to confirm and extend these findings by typing additional SNPs in genes linked to inflammation in an extended cohort of 1500 DCM patients and 2000 controls. (herz-kreislauf-netz.de)
  • The five tag SNPs within the SUMO3 gene were selected based on observed linkage disequilibrium (LD) and were used for genotyping. (jneuropsychiatry.org)
  • The two tag SNPs, rs235337 and rs2838694, within the SUMO3 gene showed that they have potential genetic risk factors for AD in a Korean population. (jneuropsychiatry.org)
  • CONCLUSIONS AND INTERPRETATION: No evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers. (ru.nl)
  • find genes
  • To find genes that modulate SMN function defects across species, two approaches were used. (harvard.edu)
  • In the search for potential drug targets, many studies used high-throughput screens to find genes that modify the cytotoxicity of misfolded proteins. (g3journal.org)
  • mRNA
  • Abundance relationships are maintained, allowing the precise quantification of the absolute number of mRNA molecules per cell, ranging from 2 to 1.28×10 9 for each individual gene. (blogspot.com)
  • variation
  • In the BV, the wide variation of age-at-onset may be accounted for by a modifier gene and/or anticipation associated with potential de novo copy number variations within the FOXC1 duplicatedregion. (arvojournals.org)
  • Single-cell studies revealed considerable cell-to-cell variation: All T cells did not express all individual genes. (blogspot.com)
  • variants
  • Multifactor dimensionality reduction indicated that the best genetic model for classical onset group versus controls involved the APCS gene, whereas for late-onset cases, one APCS variant ( APCS v1) and two RBP variants ( RBP v1 and RBP v2) are involved. (oup.com)
  • consortium
  • This association was further tested in a second series of 4480 BRCA1 and 3016 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2. (ru.nl)
  • therapeutic
  • Collectively, our data demonstrate the feasibility and therapeutic benefit of CRISPR/dCas9-mediated modulation of a disease modifier gene, which opens up an entirely new and mutation-independent treatment approach for all MDC1A patients. (mousephenotype.org)
  • Our data provide a proof-of-concept strategy that can be applied to a variety of disease modifier genes and a powerful therapeutic approach for various inherited and acquired diseases. (mousephenotype.org)
  • Together, our findings establish a mutagenesis screening strategy that is scalable for systematic identification of genetic modifiers of CM, feasible to suggest therapeutic targets, and expandable to other major human diseases. (jci.org)
  • interaction
  • A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs9640279 (OR 1.52, p = 0.0064) and indicated between INS rs689 and GIMAP5 rs2286899. (jimmunol.org)
  • However, because of the multiple comparisons made, further studies are required to confirm the interaction between these modifying genes and CFTR. (ubc.ca)
  • disease
  • Some diseases, such as familial Alzheimer's disease (FAD), arise from a mutation in a single gene. (alzforum.org)
  • A case in point is the mouse sodium channel modifier 1 (SCNM1), a gene that can turn a chronic disorder into a lethal disease. (alzforum.org)
  • Methods Several reports suggest that genetic modifiers of disease risk are capable of influencing the age of disease onset in HNPCC and it is likely that many of them have not yet been identified. (uit.no)
  • We have identified two genes that showed nominal association with disease severity among CF patients. (ubc.ca)
  • The disease follows an autosomal dominant pattern of inheritance and is associated with an expanded block of CAG repeats in exon 1 of the IT15 gene [ 3 ]. (intechopen.com)
  • Chromosome 10 and 14 duplications and deletion at PARK2 gene may play a role in prion disease susceptibility. (ucl.ac.uk)
  • mechanisms
  • Such mechanisms could include repression of E2F and Myc activities, which transactivate various genes required for mitotic stimulation, cell-cycle progression, and DNA replication ( 1- 3 ). (sciencemag.org)
  • dysfunction
  • Since inflammation is linked to the progression of contractile dysfunction, we genotyped a well characterized study cohort of 792 patients with contractile dysfunction and 721 controls for a variety of genes involved in inflammation. (herz-kreislauf-netz.de)
  • In NGFN-1, we genotyped a well characterized study cohort of 792 patients with contractile dysfunction and 721 controls for a variety of genes involved in inflammation (Table 1). (herz-kreislauf-netz.de)
  • analysis
  • Analysis using Penn CNV revealed a nominally significant association of CNV deletion at PARK2 gene. (ucl.ac.uk)
  • C ) qPCR analysis of the percent native transcripts of the tagged genes remaining in the adult fish heart of designated GBT heterozygous and homozygous mutants, respectively. (jci.org)
  • risk
  • Although TGCTs are the most common cancer in young men and have an unusually strong familial risk, only one low-frequency susceptibility gene has been identified for this highly multigenic trait. (oup.com)
  • help
  • OrientationChecker 1.0 - OrientationChecker is a simple, Java based application specially designed to help you check and alter the orientation of 16S rRNA gene sequences. (softlist.net)