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Journal Abstract Search

150 related items for PubMed ID: 29111009

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  • 2. 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 10; 16():5. PubMed ID: 25928698
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  • 3. 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 10; 42(1):79-83. PubMed ID: 33034244
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  • 10. 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 10; 12(6):1100-9. PubMed ID: 23869908
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  • 11. 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 10; 28(12):1702-8. PubMed ID: 23220793
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  • 12. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) or "Coats Plus": when peripheral retinal vasculature signals neurologic disease.
    Mansukhani S, Ho ML, Gavrilova RH, Mohney BG, Quiram PA, Brodsky MC.
    J AAPOS; 2017 Oct 10; 21(5):420-422. PubMed ID: 28864049
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  • 13. Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
    Riquelme J, Takada S, van Dijk T, Peña F, Boogaard MW, van Duyvenvoorde HA, Pico-Knijnenburg I, Wit JM, van der Burg M, Mericq V, Losekoot M.
    Horm Res Paediatr; 2021 Oct 10; 94(11-12):448-455. PubMed ID: 34706368
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  • 14. 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 25; 213(8):1429-40. PubMed ID: 27432940
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  • 15. 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 01; 30(7):812-26. PubMed ID: 27013236
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  • 17. Pathogenic CTC1 mutations cause global genome instabilities under replication stress.
    Wang Y, Chai W.
    Nucleic Acids Res; 2018 May 04; 46(8):3981-3992. PubMed ID: 29481669
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  • 18. Molecular basis of telomere syndrome caused by CTC1 mutations.
    Chen LY, Majerská J, Lingner J.
    Genes Dev; 2013 Oct 01; 27(19):2099-108. PubMed ID: 24115768
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