BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

335 related articles for article (PubMed ID: 24115768)

  • 1. Molecular basis of telomere syndrome caused by CTC1 mutations.
    Chen LY; Majerská J; Lingner J
    Genes Dev; 2013 Oct; 27(19):2099-108. PubMed ID: 24115768
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.
    Takai H; Jenkinson E; Kabir S; Babul-Hirji R; Najm-Tehrani N; Chitayat DA; Crow YJ; de Lange T
    Genes Dev; 2016 Apr; 30(7):812-26. PubMed ID: 27013236
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus.
    Gu P; Chang S
    Aging Cell; 2013 Dec; 12(6):1100-9. PubMed ID: 23869908
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Pathogenic CTC1 mutations cause global genome instabilities under replication stress.
    Wang Y; Chai W
    Nucleic Acids Res; 2018 May; 46(8):3981-3992. PubMed ID: 29481669
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations.
    Han E; Patel NA; Yannuzzi NA; Laura DM; Fan KC; Negron CI; Prakhunhungsit S; Thorson WL; Berrocal AM
    Ophthalmic Genet; 2020 Aug; 41(4):363-367. PubMed ID: 32543263
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
    Netravathi M; Kumari R; Kapoor S; Dakle P; Dwivedi MK; Roy SD; Pandey P; Saini J; Ramakrishna A; Navalli D; Satishchandra P; Pal PK; Kumar A; Faruq M
    BMC Med Genet; 2015 Feb; 16():5. PubMed ID: 25928698
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An Indian child with Coats plus syndrome due to mutations in STN1.
    Passi GR; Shamim U; Rathore S; Joshi A; Mathur A; Parveen S; Sharma P; Crow YJ; Faruq M
    Am J Med Genet A; 2020 Sep; 182(9):2139-2144. PubMed ID: 32627942
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.
    Acharya T; Firth HV; Dugar S; Grammatikopoulos T; Seabra L; Walters A; Crow YJ; Parker APJ
    Mol Genet Genomic Med; 2021 Dec; 9(12):e1708. PubMed ID: 34110109
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Patient-Derived iPSCs Reveal Evidence of Telomere Instability and DNA Repair Deficiency in Coats Plus Syndrome.
    Oudrhiri N; M'kacher R; Chaker D; Colicchio B; Borie C; Jeandidier E; Dieterlen A; Griscelli F; Bennaceur-Griscelli A; Turhan AG
    Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011306
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel biallelic missense mutations in CTC1 gene identified in a Chinese family with Coats plus syndrome.
    Lin H; Gong L; Zhan S; Wang Y; Liu A
    J Neurol Sci; 2017 Nov; 382():142-145. PubMed ID: 29111009
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
    Simon AJ; Lev A; Zhang Y; Weiss B; Rylova A; Eyal E; Kol N; Barel O; Cesarkas K; Soudack M; Greenberg-Kushnir N; Rhodes M; Wiest DL; Schiby G; Barshack I; Katz S; Pras E; Poran H; Reznik-Wolf H; Ribakovsky E; Simon C; Hazou W; Sidi Y; Lahad A; Katzir H; Sagie S; Aqeilan HA; Glousker G; Amariglio N; Tzfati Y; Selig S; Rechavi G; Somech R
    J Exp Med; 2016 Jul; 213(8):1429-40. PubMed ID: 27432940
    [TBL] [Abstract][Full Text] [Related]  

  • 12. CTC1-STN1 coordinates G- and C-strand synthesis to regulate telomere length.
    Gu P; Jia S; Takasugi T; Smith E; Nandakumar J; Hendrickson E; Chang S
    Aging Cell; 2018 Aug; 17(4):e12783. PubMed ID: 29774655
    [TBL] [Abstract][Full Text] [Related]  

  • 13. CST-Polα/Primase: the second telomere maintenance machine.
    Cai SW; de Lange T
    Genes Dev; 2023 Jul; 37(13-14):555-569. PubMed ID: 37495394
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    Nucleic Acids Res; 2023 Jun; 51(10):4914-4928. PubMed ID: 37021555
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.
    Romaniello R; Arrigoni F; Citterio A; Tonelli A; Sforzini C; Rizzari C; Pessina M; Triulzi F; Bassi MT; Borgatti R
    J Child Neurol; 2013 Dec; 28(12):1702-8. PubMed ID: 23220793
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
    Himes RW; Chiou EH; Queliza K; Shouval DS; Somech R; Agarwal S; Jajoo K; Ziegler DS; Kratz CP; Huang J; Lucas TL; Myers KC; Nelson AS; DiNardo CD; Alter BP; Giri N; Khincha PP; McReynolds LJ; Dufour C; Pierri F; Goldman FD; Sherif Y; Savage SA; Miloh T; Bertuch AA
    J Pediatr; 2021 Mar; 230():55-61.e4. PubMed ID: 32971146
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    Nat Commun; 2018 Jul; 9(1):2827. PubMed ID: 30026550
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ophthalmic findings and a novel CTC1 gene mutation in coats plus syndrome: a case report.
    Liang T; Zhang X; Xu Y; Zhao P
    Ophthalmic Genet; 2021 Feb; 42(1):79-83. PubMed ID: 33034244
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene.
    Bisserbe A; Tertian G; Buffet C; Turhan A; Lambotte O; Nasser G; Alvin P; Tardieu M; Riant F; Bergametti F; Tournier-Lasserve E; Denier C
    Rev Neurol (Paris); 2015 May; 171(5):445-9. PubMed ID: 25843205
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pol α-primase dependent nuclear localization of the mammalian CST complex.
    Kelich JM; Papaioannou H; Skordalakes E
    Commun Biol; 2021 Mar; 4(1):349. PubMed ID: 33731801
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.