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Year Number of Results
1993 1
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2009 2
2011 1
2012 9
2013 5
2014 9
2015 7
2016 10
2017 7
2018 8
2019 10
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2021 7
2022 10
2023 12
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108 results

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Page 1
Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome.
Doubková M, Vrzalová Z, Štefániková M, Červinek L, Kozubík KS, Blaháková I, Pospíšilová Š, Doubek M. Doubková M, et al. Multidiscip Respir Med. 2023 Jun 5;18(1):909. doi: 10.4081/mrm.2023.909. eCollection 2023 Jan 17. Multidiscip Respir Med. 2023. PMID: 37404458 Free PMC article.
CASE PRESENTATION: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a germline heterozygous variant of CTC1 gene (c.1360delG). This "frameshift" variant results in a premature stop codon and is c …
CASE PRESENTATION: In proband with high-risk myelodysplastic syndrome and interstitial pulmonary fibrosis, whole exome sequencing revealed a …
Dyskeratosis Congenita and Related Telomere Biology Disorders.
Savage SA, Niewisch MR. Savage SA, et al. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301779 Free Books & Documents. Review.
DIAGNOSIS/TESTING: A majority of individuals with DC/TBD have abnormally short telomeres for their age, as determined by multicolor flow cytometry fluorescence in situ hybridization (flow-FISH) on lymphocyte subsets. To date, ACD, CTC1, DKC1, NAF1, NHP2, NOP10, PARN, POT1, …
DIAGNOSIS/TESTING: A majority of individuals with DC/TBD have abnormally short telomeres for their age, as determined by multicolor flow cyt …
Shaping human telomeres: from shelterin and CST complexes to telomeric chromatin organization.
Lim CJ, Cech TR. Lim CJ, et al. Nat Rev Mol Cell Biol. 2021 Apr;22(4):283-298. doi: 10.1038/s41580-021-00328-y. Epub 2021 Feb 9. Nat Rev Mol Cell Biol. 2021. PMID: 33564154 Free PMC article. Review.
In this Review, we discuss recently determined structures of the shelterin and CTC1-STN1-TEN1 (CST) complexes, how they may participate in the regulation of telomere replication and chromosome end-capping, and how disease-causing mutations in their encoding genes ma …
In this Review, we discuss recently determined structures of the shelterin and CTC1-STN1-TEN1 (CST) complexes, how they may participa …
Associations between ZNF676, CTC1 Gene Polymorphisms and Relative Leukocyte Telomere Length with Myopia and Its Degree.
Duseikaite M, Vilkeviciute A, Kunceviciene E, Gedvilaite G, Kriauciuniene L, Liutkeviciene R. Duseikaite M, et al. Biomedicines. 2024 Feb 28;12(3):538. doi: 10.3390/biomedicines12030538. Biomedicines. 2024. PMID: 38540151 Free PMC article.
Our study delves into the associations between ZNF676 and CTC1 gene polymorphisms and their impact on the relative leukocyte telomere length (relative LTL) in myopia, as well as its degree. ...RESULTS: The results show that myopic patients who are homozygous for the …
Our study delves into the associations between ZNF676 and CTC1 gene polymorphisms and their impact on the relative leukocyte t …
Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.
Liang T, Zhang X, Xu Y, Zhao P. Liang T, et al. Ophthalmic Genet. 2021 Feb;42(1):79-83. doi: 10.1080/13816810.2020.1827443. Epub 2020 Oct 9. Ophthalmic Genet. 2021. PMID: 33034244
BACKGROUND: Coats plus syndrome is a rare multisystem disorder, and is also a telomere-related disorder caused by CTC1 gene mutation. We reported ophthalmic findings in a Chinese child with genetically confirmed Coats plus syndrome. ...CONCLUSIONS: The present repor …
BACKGROUND: Coats plus syndrome is a rare multisystem disorder, and is also a telomere-related disorder caused by CTC1 gene mu …
CST-Polα/Primase: the second telomere maintenance machine.
Cai SW, de Lange T. Cai SW, et al. Genes Dev. 2023 Jul 1;37(13-14):555-569. doi: 10.1101/gad.350479.123. Epub 2023 Jul 26. Genes Dev. 2023. PMID: 37495394 Free PMC article. Review.
Therefore, a second enzyme is needed to keep telomeres intact: DNA polymerase alpha/Primase bound to Ctc1-Stn1-Ten1 (CST). CST-Polalpha/Primase maintains telomeres through a fill-in reaction that replenishes the lost sequences at the 5' ends. ...
Therefore, a second enzyme is needed to keep telomeres intact: DNA polymerase alpha/Primase bound to Ctc1-Stn1-Ten1 (CST). CST-Polalp …
CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
Wang H, Ma T, Zhang X, Chen W, Lan Y, Kuang G, Hsu SJ, He Z, Chen Y, Stewart J, Bhattacharjee A, Luo Z, Price C, Feng X. Wang H, et al. Nucleic Acids Res. 2023 Jun 9;51(10):4914-4928. doi: 10.1093/nar/gkad237. Nucleic Acids Res. 2023. PMID: 37021555 Free PMC article.
CST (CTC1-STN1-TEN1) is a telomere associated complex that binds ssDNA and is required for multiple steps in telomere replication, including termination of G-strand extension by telomerase and synthesis of the complementary C-strand. ...To address the mechanism, we generat …
CST (CTC1-STN1-TEN1) is a telomere associated complex that binds ssDNA and is required for multiple steps in telomere replication, in …
CTC1-STN1 terminates telomerase while STN1-TEN1 enables C-strand synthesis during telomere replication in colon cancer cells.
Feng X, Hsu SJ, Bhattacharjee A, Wang Y, Diao J, Price CM. Feng X, et al. Nat Commun. 2018 Jul 19;9(1):2827. doi: 10.1038/s41467-018-05154-z. Nat Commun. 2018. PMID: 30026550 Free PMC article.
We show that CTC1-STN1 limits telomerase action to prevent G-overhang overextension. CTC1(-/-) cells exhibit telomeric DNA damage and growth arrest due to overhang elongation whereas TEN1(-/-) cells do not. However, TEN1 is essential for C-strand synthesis and TEN1( …
We show that CTC1-STN1 limits telomerase action to prevent G-overhang overextension. CTC1(-/-) cells exhibit telomeric DNA dam …
A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.
Liu L, Luo H, Sheng Y, Kang X, Peng H, Luo H, Fan LL. Liu L, et al. Hereditas. 2023 Nov 18;160(1):37. doi: 10.1186/s41065-023-00299-4. Hereditas. 2023. PMID: 37978541 Free PMC article.
After data filtering, a novel heterozygous mutation (NM_025099: p.Gly131Arg) of CTC1 was identified in two affected family members. As a component of CST (CTC1-STN1-TEN1) complex, CTC1 is responsible for maintaining telomeric structure integrity and has also …
After data filtering, a novel heterozygous mutation (NM_025099: p.Gly131Arg) of CTC1 was identified in two affected family members. A …
CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J. Sargolzaeiaval F, et al. Mol Genet Genomic Med. 2018 Nov;6(6):1148-1156. doi: 10.1002/mgg3.495. Epub 2018 Nov 4. Mol Genet Genomic Med. 2018. PMID: 30393977 Free PMC article.
BACKGROUND: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic variants of the conserved telomere maintenance component 1 (CTC1) gene. The CTC1 forms the telomeric capping complex, CST, …
BACKGROUND: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is an autosomal recessive disorder caused by pathogenic var …
108 results