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  • telomerase
  • The gene encoding the potent endogenous telomerase inhibitor PinX1 (PIN2/TRF1-interacting, telomerase inhibitor 1) is located at human chromosome 8p23, a region frequently exhibiting heterozygosity in many common human cancers, but the function or functions of PinX1 in development and tumorigenesis are unknown. (nih.gov)
  • homologous
  • The immunosuppressive and anticancer drug rapamycin acts by binding the highly conserved immunophilin FKBP12 (FK506-binding protein of 12 kDa, encoded by the FPR1 gene in Saccharomyces cerevisiae ), and the FKBP12-rapamycin complex then binds and inhibits the kinase TOR (target of rapamycin, encoded by the homologous TOR1 and TOR2 genes in S. cerevisiae ) ( 63 , 64 , 135 ) (Fig. 1 ). (asm.org)
  • By contrast, knockouts of homologous genes in the mouse often do not exhibit comparable early neural crest phenotypes. (biologists.org)
  • mutations in the X-linked
  • Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase ( FECH ) gene and gain-of-function mutations in the X-linked erythroid-specific 5-aminolevulinate synthase ( ALAS2 ) gene, respectively. (springer.com)
  • Filaminopathies A caused by mutations in the X-linked FLNA gene are responsible for a wide spectrum of rare diseases including 2 main phenotypes, the X-linked dominant form of periventricular nodular heterotopia (FLNA-PVNH) and the otopalatodigital syndrome spectrum of disorders. (bloodjournal.org)
  • 2000
  • Nuclear factor I (NFI) consists of a family of four genes ( Nfia , Nfib , Nfic , and Nfix ) that each gives rise to multiple isoforms via alternative splicing ( Gronostajski, 2000 ). (jneurosci.org)
  • linkage
  • Until recently, few genes identified through linkage scans or the candidate gene approach have been confirmed to be associated with type 2 diabetes (e.g. (diabetesjournals.org)
  • Given the differences in environmental factors (e.g., lifestyle), risk factor profiles (body composition and insulin secretion/resistance patterns), and genetic background (linkage disequilibrium pattern and risk allele frequencies) between Europeans and Asians, it is important to understand the role of these genes in Asians. (diabetesjournals.org)
  • More recently, human genetic linkage studies have identified several genes in familial forms of PD. (springer.com)
  • Amplification
  • To detect these mutations, we developed an effective technique based on the real-time TaqMan PCR system, which allows us to evaluate the copynumbers of the PARK2 gene exons by comparing the intensity of the amplification signals from some exon of this gene with that of the β-globin gene (the internal control). (biomedcentral.com)
  • CDK4 overexpression is mostly independent with gene amplification and represents a potential prognostic biomarker in NPC and may indicate tumor aggressiveness through cell cycle dysregulation. (springer.com)
  • pathway
  • Although many of these genes may be implicated in the insulin production/secretion pathway ( TCF7L2 , SLC30A8 , HHEX , CDKAL1 , CDKN2A/B , and IGF2BP2 ) ( 6 , 9 - 11 ), FTO is associated with type 2 diabetes through its regulation of adiposity ( 8 , 12 , 13 ). (diabetesjournals.org)
  • Analysis of ion channel and cAMP pathway mutants indicates that this temperature-dependent plasticity is mediated via neuronal activity changes linked to mechanisms controlled by the rutabaga -encoded adenylyl cyclase. (jneurosci.org)
  • Analysis of ion channel and cAMP pathway mutants reveals that this temperature-dependent plasticity is mediated by neuronal activity changes. (jneurosci.org)
  • This suggests that the Brachyury gene product might interact with multiple factors during embryo development that can affect the variability at which the " T pathway" functions. (genetics.org)
  • genomic
  • However, at the gene family level, we show hyper-variability in both gene copy number and genomic position within species, suggesting rapid, lineage-specific gene family evolution. (g3journal.org)
  • Since the late 1970s, numerous genetic studies using a wide range of laboratory techniques (conventional G-banding cytogenetics, fluorescence in situ hybridization, microsatellite analysis to detect loss of heterozygosity, Sanger sequencing, genomic arrays, and more recently next generation sequencing methodologies, among others) have identified a broad spectrum of genomic aberrations. (hindawi.com)
  • evolutionary
  • This unusual evolutionary pattern is likely generated by strong pleiotropic constraints acting on these genes at the sequence level, balanced against expansion at the level of the whole gene family. (g3journal.org)
  • Indica cultivars lack a 2.7-kb region at the point 0.4 kb upstream of the OsPsbS1 gene, suggesting evolutionary discrimination of this gene. (pnas.org)
  • mutant analysis
  • Consistent with this, the cell adhesion molecules ephrin B1 and N-cadherin were identified as NFI gene targets in CGNs using inhibitor and Nfi mutant analysis as well as chromatin immunoprecipitation. (jneurosci.org)
  • proteins
  • The standard approach to studying reproductive proteins is gene-based: the sequence evolution of a gene of interest is analyzed across multiple species. (g3journal.org)
  • The mild conditions used in the purification allowed copurifying PSBS with its interactors, which were identified by mass spectrometry analysis to be mainly photosystem II antenna proteins, such as LIGHT-HARVESTING COMPLEX B (LHCB). (plantphysiol.org)
  • mutants
  • Strategies for generating mutants include spontaneous or radiation-induced mutations and gene targeting to produce null mice or conditional knockouts, using Cre/loxP or Flp/FRT technology. (biologists.org)
  • clinical
  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. (dtu.dk)
  • family
  • For example, positive selection can drive gene family expansion through selection for divergent gene copies or maintain neutrally duplicated genes ( Innan and Kondrashov 2010 ). (g3journal.org)
  • high
  • The paralogous genes RABL2A (chr2) and RABL2B (chr22) emerged by duplication of a single gene in the human-chimpanzee ancestor and share a high degree of sequence similarity. (mpg.de)
  • target
  • The project MIDTAL (Microarray Detection of Toxic Algae)-an FP7-funded EU project-used rRNA genes (SSU and LSU) as a target on microarrays to identify toxic species. (mdpi.com)