Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome
Deng Z, Glousker G, Molczan A, Fox A, Lamm N, Dheekollu J, Weizman O, Schertzer M, Wang Z, Vladimirova O, Schug J, Aker M, Londoño-Vallejo A, Kaestner K, Lieberman P, Tzfati Y. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: e3408-e3416. PMID: 23959892, PMCID: PMC3767560, DOI: 10.1073/pnas.1300600110.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceBlotting, WesternCell ProliferationCells, CulturedDNA HelicasesDyskeratosis CongenitaFamily HealthFemaleFetal Growth RetardationGene ExpressionGenomic InstabilityHeLa CellsHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityMaleMiceMicrocephalyMutationPedigreeReverse Transcriptase Polymerase Chain ReactionTelomereTelomere ShorteningTelomeric Repeat Binding Protein 1ConceptsHoyeraal-Hreidarsson syndromeHuman RTEL1Growth defectCell divisionRTEL1 mutationsShelterin proteins TRF1DNA damage responseElongation helicase 1Unlimited cell divisionCell cycle arrestGenome stabilityNatural chromosomesProteins TRF1Telomere protectionNuclear factor 2Helicase RTEL1Damage responseTelomeric repeatsHelicase 1Ectopic expressionTelomere dysfunctionLymphoblastoid cell linesEssential functionsDevelopmental defectsRTEL1