Format
Sort by
Items per page

Send to

Choose Destination

Links from MedGen

Items: 1 to 20 of 223

1.

Radiation-free, alternative-donor HCT for Fanconi anemia patients: results from a prospective multi-institutional study.

Mehta PA, Davies SM, Leemhuis T, Myers K, Kernan NA, Prockop SE, Scaradavou A, O'Reilly RJ, Williams DA, Lehmann L, Guinan E, Margolis D, Baker KS, Lane A, Boulad F.

Blood. 2017 Apr 20;129(16):2308-2315. doi: 10.1182/blood-2016-09-743112. Epub 2017 Feb 8.

PMID:
28179273
2.

Biallelic inactivation of REV7 is associated with Fanconi anemia.

Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socié G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J.

J Clin Invest. 2016 Sep 1;126(9):3580-4. doi: 10.1172/JCI88010. Epub 2016 Aug 8.

3.

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene.

Park JY, Virts EL, Jankowska A, Wiek C, Othman M, Chakraborty SC, Vance GH, Alkuraya FS, Hanenberg H, Andreassen PR.

J Med Genet. 2016 Oct;53(10):672-680. doi: 10.1136/jmedgenet-2016-103847. Epub 2016 May 20.

4.

A Hypomorphic PALB2 Allele Gives Rise to an Unusual Form of FA-N Associated with Lymphoid Tumour Development.

Byrd PJ, Stewart GS, Smith A, Eaton C, Taylor AJ, Guy C, Eringyte I, Fooks P, Last JI, Horsley R, Oliver AW, Janic D, Dokmanovic L, Stankovic T, Taylor AM.

PLoS Genet. 2016 Mar 18;12(3):e1005945. doi: 10.1371/journal.pgen.1005945. eCollection 2016 Mar.

5.

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.

Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC.

Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829.

6.

The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation.

Magron A, Elowe S, Carreau M.

PLoS One. 2015 Oct 14;10(10):e0140612. doi: 10.1371/journal.pone.0140612. eCollection 2015.

7.

FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2.

Castella M, Jacquemont C, Thompson EL, Yeo JE, Cheung RS, Huang JW, Sobeck A, Hendrickson EA, Taniguchi T.

PLoS Genet. 2015 Oct 2;11(10):e1005563. doi: 10.1371/journal.pgen.1005563. eCollection 2015 Oct.

8.

FANCA safeguards interphase and mitosis during hematopoiesis in vivo.

Abdul-Sater Z, Cerabona D, Potchanant ES, Sun Z, Enzor R, He Y, Robertson K, Goebel WS, Nalepa G.

Exp Hematol. 2015 Dec;43(12):1031-1046.e12. doi: 10.1016/j.exphem.2015.08.013. Epub 2015 Sep 11.

9.

FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation.

Clark DW, Tripathi K, Dorsman JC, Palle K.

Oncotarget. 2015 Oct 6;6(30):28816-32. doi: 10.18632/oncotarget.5006.

10.

Analysis of a FANCE Splice Isoform in Regard to DNA Repair.

Bouffard F, Plourde K, Bélanger S, Ouellette G, Labrie Y, Durocher F.

J Mol Biol. 2015 Sep 25;427(19):3056-73. doi: 10.1016/j.jmb.2015.08.004. Epub 2015 Aug 12.

PMID:
26277624
11.

A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination.

Wang AT, Kim T, Wagner JE, Conti BA, Lach FP, Huang AL, Molina H, Sanborn EM, Zierhut H, Cornes BK, Abhyankar A, Sougnez C, Gabriel SB, Auerbach AD, Kowalczykowski SC, Smogorzewska A.

Mol Cell. 2015 Aug 6;59(3):478-90. doi: 10.1016/j.molcel.2015.07.009.

12.

Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.

Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A.

Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25.

13.

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.

Virts EL, Jankowska A, Mackay C, Glaas MF, Wiek C, Kelich SL, Lottmann N, Kennedy FM, Marchal C, Lehnert E, Scharf RE, Dufour C, Lanciotti M, Farruggia P, Santoro A, Savasan S, Scheckenbach K, Schipper J, Wagenmann M, Lewis T, Leffak M, Farlow JL, Foroud TM, Honisch E, Niederacher D, Chakraborty SC, Vance GH, Pruss D, Timms KM, Lanchbury JS, Alpi AF, Hanenberg H.

Hum Mol Genet. 2015 Sep 15;24(18):5093-108. doi: 10.1093/hmg/ddv227. Epub 2015 Jun 17.

14.

FANCD2 influences replication fork processes and genome stability in response to clustered DSBs.

Zhu J, Su F, Mukherjee S, Mori E, Hu B, Asaithamby A.

Cell Cycle. 2015;14(12):1809-22. doi: 10.1080/15384101.2015.1036210.

15.

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.

Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M.

Am J Hum Genet. 2015 Jun 4;96(6):1001-7. doi: 10.1016/j.ajhg.2015.04.022.

16.

Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.

Nicchia E, Benedicenti F, De Rocco D, Greco C, Bottega R, Inzana F, Faleschini M, Bonin S, Cappelli E, Mogni M, Stanzial F, Svahn J, Dufour C, Savoia A.

Birth Defects Res A Clin Mol Teratol. 2015 Dec;103(12):1003-10. doi: 10.1002/bdra.23388. Epub 2015 Jun 2.

PMID:
26033879
17.

Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only.

Chao MM, Kuehl JS, Strauss G, Hanenberg H, Schindler D, Neitzel H, Niemeyer C, Baumann I, von Bernuth H, Rascon J, Nagy M, Zimmermann M, Kratz CP, Ebell W.

Ann Hematol. 2015 Aug;94(8):1311-8. doi: 10.1007/s00277-015-2370-7. Epub 2015 Apr 12.

PMID:
25862235
18.

Alternative donor hematopoietic cell transplantation for Fanconi anemia.

MacMillan ML, DeFor TE, Young JA, Dusenbery KE, Blazar BR, Slungaard A, Zierhut H, Weisdorf DJ, Wagner JE.

Blood. 2015 Jun 11;125(24):3798-804. doi: 10.1182/blood-2015-02-626002. Epub 2015 Mar 30.

19.

UHRF1 is a sensor for DNA interstrand crosslinks and recruits FANCD2 to initiate the Fanconi anemia pathway.

Liang CC, Zhan B, Yoshikawa Y, Haas W, Gygi SP, Cohn MA.

Cell Rep. 2015 Mar 31;10(12):1947-56. doi: 10.1016/j.celrep.2015.02.053. Epub 2015 Mar 19.

20.

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O.

Hum Mutat. 2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7.

PMID:
25754594

Supplemental Content

Support Center