Associated Papers
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
Jensen MR et al.
Hgg Advances, 2023
37646013 (PubMed )
Supplement: mmc1.pdf
de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.
Kocheva SA et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.
Norris K et al.
Human Genetics, 2021
33709208 (PubMed )
Supplement: 439_2021_2257_MOESM1_ESM.pdf
Telomere dysfunction activates YAP1 to drive tissue inflammation.
Chakravarti D et al.
Nature Communications, 2020
32958778 (PubMed )
Supplement: 41467_2020_18420_MOESM1_ESM.pdf
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
[Clinical and genetic features of dyskeratosis congenital with bone marrow failure in eight patients].
Wan Y et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2016
Molecular basis of telomere dysfunction in human genetic diseases.
Sarek G et al.
Nature Structural & Molecular Biology, 2015
[Genotype analysis and telomere length measure in patients with dyskeratosis congenita].
Zhang JY et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2015
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
Sasa GS et al.
Clinical Genetics, 2012
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