Search results for "CST complex"

showing 2 items of 2 documents

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

2012

Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γ 3H2AX-positive cells in cell lines derived from two affected individual…

DNA polymeraseMolecular Sequence DataTelomere-Binding ProteinsHistones/metabolismHDE GENHDE NEU PEDCST complexCEREBRORETINAL MICROANGIOPATHY FAMILIAL SYNDROME CALCIFICATIONS CYSTS PROTEIN DNA LEUKOENCEPHALOPATHY EVOLUTION DEFECTSHistoneschemistry.chemical_compoundAbnormalities Multiple/geneticsGeneticsmedicineAbnormalities MultipleGenetic Predisposition to DiseaseGeneticsTelomere-binding proteinTelomere/pathologyddc:618biologyBase SequenceGenetic Predisposition to Disease/geneticsDNA replicationSequence Analysis DNATelomeremedicine.diseaseFlow CytometryTelomereCell biologyRetinal Telangiectasis/genetics/pathologychemistrySequence Analysis DNA/methodsbiology.proteinRetinal TelangiectasisPrimaseTelomere-Binding Proteins/geneticsDNADyskeratosis congenitaNature Genetics
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The telomeric Cdc13-Stn1-Ten1 complex regulates RNA polymerase II transcription

2019

Advance article.

S phase transcribed genesTranscription GeneticChromosomal Proteins Non-HistoneCell Cycle ProteinsRNA polymerase IIBur1[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC]Genome Integrity Repair and ReplicationS Phase0302 clinical medicineTranscription (biology)Gene Expression Regulation FungalTranscriptional regulation0303 health sciencesCdc13-Stn1-Ten1biology030302 biochemistry & molecular biologyTranscription regulationRNA pol IIChromatinCyclin-Dependent KinasesCell biologyTelomeres030220 oncology & carcinogenesisRNA Polymerase IITranscriptional Elongation FactorsSaccharomyces cerevisiae ProteinsDNA polymerase IITelomere-Binding ProteinsSaccharomyces cerevisiae[SDV.CAN]Life Sciences [q-bio]/CancerSaccharomyces cerevisiaeCST complex03 medical and health sciencesGeneticsBudding yeastGenomesGene030304 developmental biologyHmo1RNA[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyPromoterbiology.organism_classificationCromosomesTelomerebiology.proteinSpt5Cyclin-Dependent Kinase-Activating Kinase
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