1. Biterova E, Ignatyev A, Uusimaa J, Hinttala R, Ruddock LW. Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease. PLoS One. 2018;13:e0202391.
2. Uusimaa J, Kaarteenaho R, Paakkola T, Tuominen H, Karjalainen MK, Nadaf J, et al. NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. Acta Neuropathol. 2018;135:727–42.
3. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes. bioRxiv. 2019:531210.
4. Nishi K, Iwaihara Y, Tsunoda T, Doi K, Sakata T, Shirasawa S, et al. ROS-induced cleavage of NHLRC2 by caspase-8 leads to apoptotic cell death in the HCT116 human colon cancer cell line. Cell Death Dis. 2017;8:3218.
5. Paakkola T, Salokas K, Miinalainen I, Lehtonen S, Manninen A, Kaakinen M, et al. Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease. Hum Mol Genet. 2018;27:4288–302.