Ciaccio C et al. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant. Eur J Med Genet. 2021;64(1):104116. PMID: 33307281.
Del-Prado-Sánchez C et al. Cataract in You-Hoover-Fong syndrome: TELO2 deficiency. Ophthalmic Genet. 2020;41(6):656-658. PMID: 32940098.
Detilleux D et al. The TRRAP transcription cofactor represses interferon-stimulated genes in colorectal cancer cells. Elife. 2022;11:e69705. PMID: 35244540.
González Villén R et al. Trastorno de discapacidad intelectual y del neurodesarrollo asociado a TELO2 o síndrome de You-Hoover-Fong [Syndromic intellectual disability disorder caused by variants in TELO2 or You-Hoover-Fong syndrome]. An Pediatr (Engl Ed). 2021;94(4):265-267. PMID: 32709525.
Kim Y et al. Structure of the Human TELO2-TTI1-TTI2 Complex. J Mol Biol. 2022;434(2):167370. PMID: 34838521
Langouët M. et al. Mutation in TTI2 reveals a role for triple T complex in human brain development. Hum Mutat. 2013;34(11):1472-1476. PMID: 23956177.
Moosa S. et al. Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome. Mol Genet Genomic Med. 2017;5(5):580-584. PMID: 28944240.
Pathak GA et al. Genetically-regulated transcriptomics & copy number variation of proctitis points to altered mitochondrial and DNA repair mechanisms in individuals of European ancestry. BMC Cancer. 2020;20(1):954. PMID: 33008348.
Shin U et al. Large-scale generation and phenotypic characterization of zebrafish CRISPR mutants of DNA repair genes. DNA Repair (Amst). 2021;107:103173. PMID: 34390914.
Wang R et al. Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family. Front Genet. 2019;10:1060. PMID: 31737043.
You J et al. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet. 2016;98(5):909-918. PMID: 2713259.
TELO2