PMC Articles for MedGen (Select 1390862) - PMC

Select item 86836311.

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

Tanvi Acharya, Helen V. Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J. Crow, Alasdair P. J. Parker

Mol Genet Genomic Med. 2021 Dec; 9(12): e1708. Published online 2021 Jun 10. doi: 10.1002/mgg3.1708

PMCID:: PMC8683631

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Select item 81194782.

Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1

Arunabh Choudhury, Taj Mohammad, Nikhil Samarth, Afzal Hussain, Md. Tabish Rehman, Asimul Islam, Mohamed F. Alajmi, Shailza Singh, Md. Imtaiyaz Hassan

Sci Rep. 2021; 11: 10202. Published online 2021 May 13. doi: 10.1038/s41598-021-89450-7

PMCID:: PMC8119478

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Select item 59346593.

Pathogenic CTC1 mutations cause global genome instabilities under replication stress

Yuan Wang, Weihang Chai

Nucleic Acids Res. 2018 May 4; 46(8): 3981–3992. Published online 2018 Feb 22. doi: 10.1093/nar/gky114

PMCID:: PMC5934659

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Select item 49865284.

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects

Amos J. Simon, Atar Lev, Yong Zhang, Batia Weiss, Anna Rylova, Eran Eyal, Nitzan Kol, Ortal Barel, Keren Cesarkas, Michalle Soudack, Noa Greenberg-Kushnir, Michele Rhodes, David L. Wiest, Ginette Schiby, Iris Barshack, Shulamit Katz, Elon Pras, Hana Poran, Haike Reznik-Wolf, Elena Ribakovsky, Carlos Simon, Wadi Hazou, Yechezkel Sidi, Avishay Lahad, Hagar Katzir, Shira Sagie, Haifa A. Aqeilan, Galina Glousker, Ninette Amariglio, Yehuda Tzfati, Sara Selig, Gideon Rechavi, Raz Somech

J Exp Med. 2016 Jul 25; 213(8): 1429–1440. doi: 10.1084/jem.20151618

PMCID:: PMC4986528

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Select item 40836145.

Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus

Peili Gu, Sandy Chang

Aging Cell. Author manuscript; available in PMC 2014 Jul 7.

Published in final edited form as: Aging Cell. 2013 Dec; 12(6): 1100–1109. Published online 2013 Sep 4. doi: 10.1111/acel.12139

PMCID:: PMC4083614

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Select item 38500946.

Molecular basis of telomere syndrome caused by CTC1 mutations

Liuh-Yow Chen, Jana Majerská, Joachim Lingner

Genes Dev. 2013 Oct 1; 27(19): 2099–2108. doi: 10.1101/gad.222893.113

PMCID:: PMC3850094

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