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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: joenje h. 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.
Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA.
Lo Ten Foe JR, Rooimans MA, Bosnoyan-Collins L, Alon N, Wijker M, Parker L, Lightfoot J, Carreau M, Callen DF, Savoia A, Cheng NC, van Berkel CG, Strunk MH, Gille JJ, Pals G, Kruyt FA, Pronk JC, Arwert F, Buchwald M, Joenje H. Lo Ten Foe JR, et al. Among authors: joenje h. Nat Genet. 1996 Nov;14(3):320-3. doi: 10.1038/ng1196-320. Nat Genet. 1996. PMID: 8896563
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
de Winter JP, Waisfisz Q, Rooimans MA, van Berkel CG, Bosnoyan-Collins L, Alon N, Carreau M, Bender O, Demuth I, Schindler D, Pronk JC, Arwert F, Hoehn H, Digweed M, Buchwald M, Joenje H. de Winter JP, et al. Among authors: joenje h. Nat Genet. 1998 Nov;20(3):281-3. doi: 10.1038/3093. Nat Genet. 1998. PMID: 9806548
Fanconi anemia proteins are required to prevent accumulation of replication-associated DNA double-strand breaks.
Sobeck A, Stone S, Costanzo V, de Graaf B, Reuter T, de Winter J, Wallisch M, Akkari Y, Olson S, Wang W, Joenje H, Christian JL, Lupardus PJ, Cimprich KA, Gautier J, Hoatlin ME. Sobeck A, et al. Among authors: joenje h. Mol Cell Biol. 2006 Jan;26(2):425-37. doi: 10.1128/MCB.26.2.425-437.2006. Mol Cell Biol. 2006. PMID: 16382135 Free PMC article.
X-linked inheritance of Fanconi anemia complementation group B.
Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H. Meetei AR, et al. Among authors: joenje h. Nat Genet. 2004 Nov;36(11):1219-24. doi: 10.1038/ng1458. Epub 2004 Oct 24. Nat Genet. 2004. PMID: 15502827
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. Levitus M, et al. Among authors: joenje h. Nat Genet. 2005 Sep;37(9):934-5. doi: 10.1038/ng1625. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116423
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: joenje h. Science. 2002 Jul 26;297(5581):606-9. doi: 10.1126/science.1073834. Epub 2002 Jun 13. Science. 2002. PMID: 12065746
208 results