2019
RNA–DNA Hybrids Support Recombination-Based Telomere Maintenance in Fission Yeast
Hu Y, Bennett HW, Liu N, Moravec M, Williams JF, Azzalin CM, King MC. RNA–DNA Hybrids Support Recombination-Based Telomere Maintenance in Fission Yeast. Genetics 2019, 213: 431-447. PMID: 31405990, PMCID: PMC6781888, DOI: 10.1534/genetics.119.302606.Peer-Reviewed Original ResearchConceptsTelomeric repeat-containing RNAHomology-directed repairFission yeastR-loopsLinear chromosomesTelomere maintenanceRecombination-based telomere maintenanceTelomerase-independent telomere maintenanceShelterin component Rap1State of telomeresTelomeric R-loopsRepeat-containing RNARNA-DNA hybridsDeletion of Rap1Telomerase-independent mechanismChromosome endsShelterin componentsGrowth crisisTelomerase functionTelomeric DNARecombination factorsSubset of cancersTelomeresAlternative lengtheningShort telomeres
2009
Telomere Elongation in Dyskeratosis Congenita Induced Pluripotent Stem Cells.
Agarwal S, Loh Y, McLoughlin E, Huang J, Park I, Miller J, Huo H, Okuka M, dos Reis R, Loewer S, Keefe D, Goldman F, Klingelhutz A, Liu L, Daley G. Telomere Elongation in Dyskeratosis Congenita Induced Pluripotent Stem Cells. Blood 2009, 114: 497. DOI: 10.1182/blood.v114.22.497.497.Peer-Reviewed Original ResearchTelomerase RNA componentAutosomal dominant dyskeratosis congenitaPatient-specific iPS cellsInduced pluripotent stemIPS cellsDominant dyskeratosis congenitaSelf-renewal capacitySomatic cellsTERC locusDyskeratosis congenitaPluripotency-associated transcription factorsPrimary somatic cellsHallmarks of pluripotencyInduced pluripotent stem cellsTelomere lengthHuman iPS cellsHuman degenerative disordersPluripotent stem cellsTranscriptional silencingPluripotent stateTelomerase functionSteady-state levelsTranscription factorsRNA componentIPS lines
2005
BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1–Chk1 pathway, implicating checkpoint dysfunction in microcephaly
Lin SY, Rai R, Li K, Xu ZX, Elledge SJ. BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1–Chk1 pathway, implicating checkpoint dysfunction in microcephaly. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 15105-15109. PMID: 16217032, PMCID: PMC1257745, DOI: 10.1073/pnas.0507722102.Peer-Reviewed Original ResearchConceptsDNA damage responsive proteinBRIT1/MCPH1Human telomerase functionDamage-responsive proteinsChromatin-associated proteinsPhosphorylation of Nbs1Checkpoint kinase Chk1G2/M checkpointSeckel syndrome patientsCell cycle arrestGamma-H2AX fociKinase Chk1Nuclear fociResponsive proteinsTelomerase functionMicrocephaly disordersMCPH1 geneCellular immortalizationBRIT1MCPH1 deficiencyChk1 pathwayAtaxia telangiectasiaM checkpointPrimary microcephalyChk1
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