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Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.
Kalb R, Neveling K, Hoehn H, Schneider H, Linka Y, Batish SD, Hunt C, Berwick M, Callen E, Surralles J, Casado JA, Bueren J, Dasi A, Soulier J, Gluckman E, Zwaan CM, van Spaendonk R, Pals G, de Winter JP, Joenje H, Grompe M, Auerbach AD, Hanenberg H, Schindler D. Kalb R, et al. Among authors: grompe m. Am J Hum Genet. 2007 May;80(5):895-910. doi: 10.1086/517616. Epub 2007 Apr 6. Am J Hum Genet. 2007. PMID: 17436244 Free PMC article.
BRCA1 interacts directly with the Fanconi anemia protein FANCA.
Folias A, Matkovic M, Bruun D, Reid S, Hejna J, Grompe M, D'Andrea A, Moses R. Folias A, et al. Among authors: grompe m. Hum Mol Genet. 2002 Oct 1;11(21):2591-7. doi: 10.1093/hmg/11.21.2591. Hum Mol Genet. 2002. PMID: 12354784
Biallelic inactivation of BRCA2 in Fanconi anemia.
Howlett NG, Taniguchi T, Olson S, Cox B, Waisfisz Q, De Die-Smulders C, Persky N, Grompe M, Joenje H, Pals G, Ikeda H, Fox EA, D'Andrea AD. Howlett NG, et al. Among authors: grompe m. Science. 2002 Jul 26;297(5581):606-9. doi: 10.1126/science.1073834. Epub 2002 Jun 13. Science. 2002. PMID: 12065746
Fanconi anemia and DNA repair.
Grompe M, D'Andrea A. Grompe M, et al. Hum Mol Genet. 2001 Oct 1;10(20):2253-9. doi: 10.1093/hmg/10.20.2253. Hum Mol Genet. 2001. PMID: 11673408 Review.
282 results