1. Bluteau O, Sébert M, Leblanc T, et al. A landscape of germ line mutations in a cohort of inherited bone marrow failure patients. Blood. 2018;131(7):717–732.
2. Dingler FA, Wang M, Mu A, et al. Two aldehyde clearance systems are essential to prevent lethal formaldehyde accumulation in mice and humans. Mol Cell. in press
3. Duxin JP, Walter JC. What is the DNA repair defect underlying Fanconi anemia? Current Opinion in Cell Biology. 2015;37:49–60.
4. Ceccaldi R, Sarangi P, D'Andrea AD. The Fanconi anaemia pathway: new players and new functions. Nat Rev Mol Cell Biol. 2016;17(6):337–349.
5. Ridpath JR, Nakamura A, Tano K, et al. Cells deficient in the FANC/BRCA pathway are hypersensitive to plasma levels of formaldehyde. Cancer Res. 2007;67(23):11117–11122.
6. Reingruber H, Pontel LB. Formaldehyde metabolism and its impact on human health. Current Opinion in Toxicology. 2018;9:28–34.
7. Gross ER, Zambelli VO, Small BA, et al. A personalized medicine approach for Asian Americans with the aldehyde dehydrogenase 2*2 variant. Annu Rev Pharmacol Toxicol. 2015;55:107–127.
8. Hira A, Yabe H, Yoshida K, et al. Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. Blood. 2013;122(18):3206–3209.
9. Sonoda E, Sasaki MS, Morrison C, et al. Sister chromatid exchanges are mediated by homologous recombination in vertebrate cells. Mol Cell Biol. 1999;19(7):5166–5169.
10. Maresca M, Lin VG, Guo N, Yang Y. Obligate ligation-gated recombination (ObLiGaRe): custom-designed nuclease-mediated targeted integration through nonhomologous end joining. Genome Research. 2013;23(3):539–546.
11. Okita K, Matsumura Y, Sato Y, et al. A more efficient method to generate integration-free human iPS cells. Nat Meth. 2011;8(5):409–412.
12. Nakagawa M, Taniguchi Y, Senda S, et al. A novel efficient feeder-free culture system for the derivation of human induced pluripotent stem cells. Sci Rep. 2014;4(1):713–7.
13. Howden SE, Maufort JP, Duffin BM, et al. Simultaneous Reprogramming and Gene Correction of Patient Fibroblasts. Stem Cell Reports. 2015;5(6):1109–1118.
14. Niwa A, Heike T, Umeda K, et al. A novel serum-free monolayer culture for orderly hematopoietic differentiation of human pluripotent cells via mesodermal progenitors. PLoS ONE. 2011.
15. Oshima K, Tanimura A, Hirayama A, et al. Human AK2 links intracellular bioenergetic redistribution to the fate of hematopoietic progenitors. Biochem Biophys Res Commun. 2018;497(2):719–725.
16. Wechsler T, Newman S, West SC. Aberrant chromosome morphology in human cells defective for Holliday junction resolution. Nature. 2011;471(7340):642–646.
17. Green LS, Chun LE, Patton AK, et al. Mechanism of inhibition for N6022, a first-in-class drug targeting S-nitrosoglutathione reductase. Biochemistry. 2012;51(10):2157–2168.
18. Garaycoechea JI, Crossan GP, Langevin F, et al. Alcohol and endogenous aldehydes damage chromosomes and mutate stem cells. Nature. 2018;553(7687):171–177.
19. Chen C-H, Budas GR, Churchill EN, et al. Activation of aldehyde dehydrogenase-2 reduces ischemic damage to the heart. Science. 2008;321(5895):1493–1495.
20. K. Tanaka, T. Ishida, M. Miyano, R. Shinkyo, ALDH2 activator. US2019/0231720 (2019).
21. Marion W, Boettcher S, Ruiz-Torres S, et al. An induced pluripotent stem cell model of Fanconi anemia reveals mechanisms of p53-driven progenitor cell differentiation. Blood Adv. 2020;4(19):4679–4692.
22. Langevin F, Crossan GP, Rosado IV, Arends MJ, Patel KJ. Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice. Nature. 2011;475(7354):53–58.
23. Pontel LB, Rosado IV, Burgos-Barragan G, et al. Endogenous Formaldehyde Is a Hematopoietic Stem Cell Genotoxin and Metabolic Carcinogen. Mol Cell. 2015;60(1):177– 188.
24. Zhang Q-S, Tang W, Deater M, et al. Metformin improves defective hematopoiesis and delays tumor formation in Fanconi anemia mice. Blood. 2016;128(24):2774–2784.
25. Barnett SD, Buxton ILO. The role of S-nitrosoglutathione reductase (GSNOR) in human disease and therapy. Crit Rev Biochem Mol Biol. 2017;52(3):340–354.
26. Shi Y. Histone lysine demethylases: emerging roles in development, physiology and disease. Nat Rev Genet. 2007;8(11):829–833.
27. Atlasi Y, Stunnenberg HG. The interplay of epigenetic marks during stem cell differentiation and development. Nat Rev Genet. 2017;18(11):643–658.
28. Nakamura J, Holley DW, Kawamoto T, Bultman SJ. The failure of two major formaldehyde catabolism enzymes (ADH5 and ALDH2) leads to partial synthetic lethality in C57BL/ 6 mice. Genes and Environ. 2020;42(1):1–6.