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  1. 9021
    “…The Me7-linked markers identified here will facilitate marker-assisted selection (MAS) for RKN resistance in pepper breeding programs, as well as functional analysis of Me7 candidate genes in C. annuum.…”
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    Physical Localization of the Root-Knot Nematode (Meloidogyne incognita) Resistance Locus Me7 in Pepper (Capsicum annuum)
  2. 9022
    “…Moreover, human fibroblasts from CdLS probands with mutations in NIPBL show reduced BRD4 at co-occupied promoters. Functional analysis in vivo, using mutants of Drosophila melanogaster, confirmed the genetic interaction between Nipped-B and fs(1)h, the orthologs of human NIPBL and BRD4, respectively. …”
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    The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes
  3. 9023
    “…RESULTS: Six unrelated patients had a Developmental and Epileptic Encephalopathy and a recurrent de novo variant p.Ala421Val (c.1262C > T). Functional analysis of p.Ala421Val revealed loss of function through a significant reduction in whole‐cell current, but no dominant‐negative effect. …”
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    Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
  4. 9024
    “…In the present study, we explored functional analysis techniques to characterize the pattern of platelet aggregation over time in response to nanoparticle induced perturbations. …”
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    Probing ADP Induced Aggregation Kinetics During Platelet-Nanoparticle Interactions: Functional Dynamics Analysis to Rationalize Safety and Benefits
  5. 9025
    “…This included 54 phosphorylation sites that were significantly down-modulated after exposure to all three inhibitors, 34 of which have not been previously reported. Functional analysis of these novel ERK targets identified roles for them in GTPase activity and regulation, apoptosis and cell-cell adhesion. …”
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    Global view of the RAF-MEK-ERK module and its immediate downstream effectors
  6. 9026
    “…The current study identified and classified candidate peach NF-Y genes for further functional analysis of this family. RESULTS: The current study identified 24 Nuclear Factor Y (NF-Y) transcription factor subunits (6 NF-YA, 12 NF-YB, and 6 NF-YC subunits) in peach. …”
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    Genome-wide analysis of the NF-Y gene family in peach (Prunus persica L.)
  7. 9027
    “…A BPH‐responsive flavanone 3‐hydroxylase (OsF3H) gene in the flavonoid biosynthetic pathway was proved to be directly regulated by OsGRF8. A genetic functional analysis of OsF3H revealed its positive role in mediating both the flavonoid contents and BPH resistance. …”
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    The OsmiR396–OsGRF8–OsF3H‐flavonoid pathway mediates resistance to the brown planthopper in rice (Oryza sativa)
  8. 9028
    “…In this study, we performed functional analysis of SlMAPK3 for its possible role in response to heat stress. …”
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    Knockout of SlMAPK3 enhances tolerance to heat stress involving ROS homeostasis in tomato plants
  9. 9029
    “…This study aims at correlating the content of aliphatic glucosinolates to the expression of genes involved in their synthesis in Brassica oleracea, and perform functional analysis of BoMYB29 gene. To this purpose, three genotypes were used: a sprouting broccoli, a cabbage, and a wild genotype (Winspit), a high glucosinolate containing accession. …”
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    Overexpression of the MYB29 transcription factor affects aliphatic glucosinolate synthesis in Brassica oleracea
  10. 9030
    “…Next-generation sequencing will accelerate the finding of new potentially causal variants and genes, with high-throughput bioinformatics analysis methods and functional analysis pipelines important in prioritising, confirming and understanding the mechanisms of disease-causing variants. …”
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    Advances in genetics of migraine
  11. 9031
    “…One module was associated with paclitaxel-induced peripheral neuropathy group membership. Functional analysis found that this module was associated with four signaling pathways and two ontology annotations related to cytoskeleton and axon morphology. …”
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    Signaling pathways and gene co-expression modules associated with cytoskeleton and axon morphology in breast cancer survivors with chronic paclitaxel-induced peripheral neuropathy
  12. 9032
    “…Whole-genome and -exome sequencing of ASD families identified three de novo mutations in TAOK2 and functional analysis in mice and human cells revealed that all the mutations impair protein stability, but they differentially impact kinase activity, dendrite growth, and spine/synapse development. …”
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    Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling
  13. 9033
    “…Based on systematic characterization of variants and functional analysis including expression in chondrocytes, we classified 13 genes as strong candidates. …”
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    Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
  14. 9034
    “…Hence, the structural and functional analysis results have given interim conclusions that these variants can have a deleterious effect in TCP pathogenesis, either uniquely or in combination with other mutations. …”
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    Structural, functional and molecular dynamics analysis of cathepsin B gene SNPs associated with tropical calcific pancreatitis, a rare disease of tropics
  15. 9035
    por López-Isac, Elena, Acosta-Herrera, Marialbert, Kerick, Martin, Assassi, Shervin, Satpathy, Ansuman T., Granja, Jeffrey, Mumbach, Maxwell R., Beretta, Lorenzo, Simeón, Carmen P., Carreira, Patricia, Ortego-Centeno, Norberto, Castellvi, Ivan, Bossini-Castillo, Lara, Carmona, F. David, Orozco, Gisela, Hunzelmann, Nicolas, Distler, Jörg H. W., Franke, Andre, Lunardi, Claudio, Moroncini, Gianluca, Gabrielli, Armando, de Vries-Bouwstra, Jeska, Wijmenga, Cisca, Koeleman, Bobby P. C., Nordin, Annika, Padyukov, Leonid, Hoffmann-Vold, Anna-Maria, Lie, Benedicte, Proudman, Susanna, Stevens, Wendy, Nikpour, Mandana, Vyse, Timothy, Herrick, Ariane L., Worthington, Jane, Denton, Christopher P., Allanore, Yannick, Brown, Matthew A., Radstake, Timothy R. D. J., Fonseca, Carmen, Chang, Howard Y., Mayes, Maureen D., Martin, Javier
    Publicado 2019
    “…Additionally, we identify specific SSc subtype-associated signals. Functional analysis of high-priority variants shows the potential function of SSc signals, with the identification of 43 robust target genes through HiChIP. …”
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    GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
  16. 9036
    “…Bioinformatics was used for the functional analysis of miR-640 target genes. N-cadherin and HIF-1α expression was measured by Western blot analysis. …”
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    Emerging Roles Of hsa-circ-0046600 Targeting The miR-640/HIF-1α Signalling Pathway In The Progression Of HCC
  17. 9037
    “…Sequencing data were then analyzed by bioinformatics for potential diagnostic miRNAs. Network functional analysis for Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway implicated two pathways rooted to signal transduction [Wnt and mitogen-activated protein kinase (MAPK)] that were enriched in CRC patients. …”
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    Screening for differentially-expressed microRNA biomarkers in Saudi colorectal cancer patients by small RNA deep sequencing
  18. 9038
    “…The plasmid for ID1 expression was stably transfected into SW1990 cells for relevant functional analysis. The effect of dark tea extract on tumorigenesis in vivo was studied in xenograft tumor model. …”
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    The synergic inhibitory effects of dark tea (Camellia sinensis) extract and p38 inhibition on the growth of pancreatic cancer cells
  19. 9039
    “…Overall, from the transcriptome, we identified 832 differentially expressed probes. A functional analysis of the 308 human annotated differentially expressed genes revealed around 13 functional clusters related to important biological terms, such as extracellular matrix, collagen type 4, immune responses, cell proliferation, and wound healing. …”
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    Arresting proliferation improves the cell identity of corneal endothelial cells in the New Zealand rabbit
  20. 9040
    “…Of these, m.11150G>A was observed in one patient, whereas m.11519A>C, m.11523A>C and m.11527C>T were observed in another patient. Functional analysis predicted the mutations, m.11519A>C, m.11523A>C and m.11150G>A, as deleterious with a direct impact on ND4 protein stability and complex I function, whereas m.11527C>T mutation had no effect on ND4 protein stability. …”
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    Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis
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