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Items: 1 to 50 of 53

1.

Advances in understanding DNA processing and protection at stalled replication forks.

Rickman K, Smogorzewska A.

J Cell Biol. 2019 Apr 1;218(4):1096-1107. doi: 10.1083/jcb.201809012. Epub 2019 Jan 22. Review.

PMID:
30670471
2.

Removal of RTF2 from Stalled Replisomes Promotes Maintenance of Genome Integrity.

Kottemann MC, Conti BA, Lach FP, Smogorzewska A.

Mol Cell. 2018 Jan 4;69(1):24-35.e5. doi: 10.1016/j.molcel.2017.11.035. Epub 2017 Dec 28.

3.

Corrigendum: Genetic interrogation of replicative senescence uncovers a dual role for USP28 in coordinating the p53 and GATA4 branches of the senescence program.

Mazzucco AE, Smogorzewska A, Kang C, Luo J, Schlabach MR, Xu Q, Patel R, Elledge SJ.

Genes Dev. 2017 Nov 15;31(22):2310. doi: 10.1101/gad.309864.117. No abstract available.

4.

Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

Asur RS, Kimble DC, Lach FP, Jung M, Donovan FX, Kamat A, Noonan RJ, Thomas JW, Park M, Chines P, Vlachos A, Auerbach AD, Smogorzewska A, Chandrasekharappa SC.

Mol Genet Genomic Med. 2018 Jan;6(1):77-91. doi: 10.1002/mgg3.350. Epub 2017 Nov 30.

5.

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.

Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, Young A, Vemulapalli M, Thomas JW, Mullikin JC, Auerbach AD, Smogorzewska A, Chandrasekharappa SC.

Hum Mutat. 2018 Feb;39(2):237-254. doi: 10.1002/humu.23366. Epub 2017 Nov 22.

6.

Genetic interrogation of replicative senescence uncovers a dual role for USP28 in coordinating the p53 and GATA4 branches of the senescence program.

Mazzucco AE, Smogorzewska A, Kang C, Luo J, Schlabach MR, Xu Q, Patel R, Elledge SJ.

Genes Dev. 2017 Oct 1;31(19):1933-1938. doi: 10.1101/gad.304857.117. Erratum in: Genes Dev. 2017 Nov 15;31(22):2310.

7.

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

Cottineau J, Kottemann MC, Lach FP, Kang YH, Vély F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E.

J Clin Invest. 2017 May 1;127(5):1991-2006. doi: 10.1172/JCI90727. Epub 2017 Apr 17.

8.

S. pombe Uba1-Ubc15 Structure Reveals a Novel Regulatory Mechanism of Ubiquitin E2 Activity.

Lv Z, Rickman KA, Yuan L, Williams K, Selvam SP, Woosley AN, Howe PH, Ogretmen B, Smogorzewska A, Olsen SK.

Mol Cell. 2017 Feb 16;65(4):699-714.e6. doi: 10.1016/j.molcel.2017.01.008. Epub 2017 Feb 2.

9.

Fan1 deficiency results in DNA interstrand cross-link repair defects, enhanced tissue karyomegaly, and organ dysfunction.

Thongthip S, Bellani M, Gregg SQ, Sridhar S, Conti BA, Chen Y, Seidman MM, Smogorzewska A.

Genes Dev. 2016 Mar 15;30(6):645-59. doi: 10.1101/gad.276261.115.

10.

Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.

Donovan FX, Kimble DC, Kim Y, Lach FP, Harper U, Kamat A, Jones M, Sanborn EM, Tryon R, Wagner JE, MacMillan ML, Ostrander EA, Auerbach AD, Smogorzewska A, Chandrasekharappa SC.

Hum Mutat. 2016 May;37(5):465-8. doi: 10.1002/humu.22962. Epub 2016 Feb 23.

11.

Natural history and management of Fanconi anemia patients with head and neck cancer: A 10-year follow-up.

Kutler DI, Patel KR, Auerbach AD, Kennedy J, Lach FP, Sanborn E, Cohen MA, Kuhel WI, Smogorzewska A.

Laryngoscope. 2016 Apr;126(4):870-9. doi: 10.1002/lary.25726. Epub 2015 Oct 20.

12.

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.

13.

Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response.

Beltran H, Eng K, Mosquera JM, Sigaras A, Romanel A, Rennert H, Kossai M, Pauli C, Faltas B, Fontugne J, Park K, Banfelder J, Prandi D, Madhukar N, Zhang T, Padilla J, Greco N, McNary TJ, Herrscher E, Wilkes D, MacDonald TY, Xue H, Vacic V, Emde AK, Oschwald D, Tan AY, Chen Z, Collins C, Gleave ME, Wang Y, Chakravarty D, Schiffman M, Kim R, Campagne F, Robinson BD, Nanus DM, Tagawa ST, Xiang JZ, Smogorzewska A, Demichelis F, Rickman DS, Sboner A, Elemento O, Rubin MA.

JAMA Oncol. 2015 Jul;1(4):466-74. doi: 10.1001/jamaoncol.2015.1313.

14.

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.

15.

SnapShot: Fanconi anemia and associated proteins.

Wang AT, Smogorzewska A.

Cell. 2015 Jan 15;160(1-2):354-354.e1. doi: 10.1016/j.cell.2014.12.031.

16.

Noncovalent interactions with SUMO and ubiquitin orchestrate distinct functions of the SLX4 complex in genome maintenance.

Ouyang J, Garner E, Hallet A, Nguyen HD, Rickman KA, Gill G, Smogorzewska A, Zou L.

Mol Cell. 2015 Jan 8;57(1):108-22. doi: 10.1016/j.molcel.2014.11.015. Epub 2014 Dec 18.

17.

DNA repair. Mechanism of DNA interstrand cross-link processing by repair nuclease FAN1.

Wang R, Persky NS, Yoo B, Ouerfelli O, Smogorzewska A, Elledge SJ, Pavletich NP.

Science. 2014 Nov 28;346(6213):1127-30. doi: 10.1126/science.1258973.

18.

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.

Flynn EK, Kamat A, Lach FP, Donovan FX, Kimble DC, Narisu N, Sanborn E, Boulad F, Davies SM, Gillio AP 3rd, Harris RE, MacMillan ML, Wagner JE, Smogorzewska A, Auerbach AD, Ostrander EA, Chandrasekharappa SC.

Hum Mutat. 2014 Nov;35(11):1342-53. doi: 10.1002/humu.22680.

19.

Human GEN1 and the SLX4-associated nucleases MUS81 and SLX1 are essential for the resolution of replication-induced Holliday junctions.

Garner E, Kim Y, Lach FP, Kottemann MC, Smogorzewska A.

Cell Rep. 2013 Oct 17;5(1):207-15. doi: 10.1016/j.celrep.2013.08.041. Epub 2013 Sep 27.

20.

Assessment of SLX4 Mutations in Hereditary Breast Cancers.

Shah S, Kim Y, Ostrovnaya I, Murali R, Schrader KA, Lach FP, Sarrel K, Rau-Murthy R, Hansen N, Zhang L, Kirchhoff T, Stadler Z, Robson M, Vijai J, Offit K, Smogorzewska A.

PLoS One. 2013 Jun 26;8(6):e66961. doi: 10.1371/journal.pone.0066961. Print 2013.

21.

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Chandrasekharappa SC, Lach FP, Kimble DC, Kamat A, Teer JK, Donovan FX, Flynn E, Sen SK, Thongthip S, Sanborn E, Smogorzewska A, Auerbach AD, Ostrander EA; NISC Comparative Sequencing Program.

Blood. 2013 May 30;121(22):e138-48. doi: 10.1182/blood-2012-12-474585. Epub 2013 Apr 23.

22.

Fanconi anaemia and the repair of Watson and Crick DNA crosslinks.

Kottemann MC, Smogorzewska A.

Nature. 2013 Jan 17;493(7432):356-63. doi: 10.1038/nature11863. Review.

23.

Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4.

Kim Y, Spitz GS, Veturi U, Lach FP, Auerbach AD, Smogorzewska A.

Blood. 2013 Jan 3;121(1):54-63. doi: 10.1182/blood-2012-07-441212. Epub 2012 Oct 23.

24.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F.

Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028.

25.

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.

Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F.

Nat Genet. 2012 Jul 8;44(8):910-5. doi: 10.1038/ng.2347.

26.

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcaïs A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E.

J Clin Invest. 2012 Mar;122(3):821-32. doi: 10.1172/JCI61014. Epub 2012 Feb 22.

27.

A genome-wide homologous recombination screen identifies the RNA-binding protein RBMX as a component of the DNA-damage response.

Adamson B, Smogorzewska A, Sigoillot FD, King RW, Elledge SJ.

Nat Cell Biol. 2012 Feb 19;14(3):318-28. doi: 10.1038/ncb2426.

28.

Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma.

Birkeland AC, Auerbach AD, Sanborn E, Parashar B, Kuhel WI, Chandrasekharappa SC, Smogorzewska A, Kutler DI.

Arch Otolaryngol Head Neck Surg. 2011 Sep;137(9):930-4. doi: 10.1001/archoto.2011.154.

29.

Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway.

Joo W, Xu G, Persky NS, Smogorzewska A, Rudge DG, Buzovetsky O, Elledge SJ, Pavletich NP.

Science. 2011 Jul 15;333(6040):312-6. doi: 10.1126/science.1205805.

30.

Ubiquitylation and the Fanconi anemia pathway.

Garner E, Smogorzewska A.

FEBS Lett. 2011 Sep 16;585(18):2853-60. doi: 10.1016/j.febslet.2011.04.078. Epub 2011 May 19. Review.

31.

Mutations of the SLX4 gene in Fanconi anemia.

Kim Y, Lach FP, Desetty R, Hanenberg H, Auerbach AD, Smogorzewska A.

Nat Genet. 2011 Feb;43(2):142-6. doi: 10.1038/ng.750. Epub 2011 Jan 16.

32.

Polybromo-associated BRG1-associated factor components BRD7 and BAF180 are critical regulators of p53 required for induction of replicative senescence.

Burrows AE, Smogorzewska A, Elledge SJ.

Proc Natl Acad Sci U S A. 2010 Aug 10;107(32):14280-5. doi: 10.1073/pnas.1009559107. Epub 2010 Jul 26.

33.

A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair.

Smogorzewska A, Desetty R, Saito TT, Schlabach M, Lach FP, Sowa ME, Clark AB, Kunkel TA, Harper JW, Colaiácovo MP, Elledge SJ.

Mol Cell. 2010 Jul 9;39(1):36-47. doi: 10.1016/j.molcel.2010.06.023.

34.

The Fanconi anemia pathway promotes replication-dependent DNA interstrand cross-link repair.

Knipscheer P, Räschle M, Smogorzewska A, Enoiu M, Ho TV, Schärer OD, Elledge SJ, Walter JC.

Science. 2009 Dec 18;326(5960):1698-701. doi: 10.1126/science.1182372. Epub 2009 Nov 12.

35.

Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair.

Svendsen JM, Smogorzewska A, Sowa ME, O'Connell BC, Gygi SP, Elledge SJ, Harper JW.

Cell. 2009 Jul 10;138(1):63-77. doi: 10.1016/j.cell.2009.06.030.

36.

FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.

Ishiai M, Kitao H, Smogorzewska A, Tomida J, Kinomura A, Uchida E, Saberi A, Kinoshita E, Kinoshita-Kikuta E, Koike T, Tashiro S, Elledge SJ, Takata M.

Nat Struct Mol Biol. 2008 Nov;15(11):1138-46. doi: 10.1038/nsmb.1504. Epub 2008 Oct 19.

37.

Cancer proliferation gene discovery through functional genomics.

Schlabach MR, Luo J, Solimini NL, Hu G, Xu Q, Li MZ, Zhao Z, Smogorzewska A, Sowa ME, Ang XL, Westbrook TF, Liang AC, Chang K, Hackett JA, Harper JW, Hannon GJ, Elledge SJ.

Science. 2008 Feb 1;319(5863):620-4. doi: 10.1126/science.1149200. Erratum in: Science.2008 Apr 18;320(5874):316.

38.

Abraxas and RAP80 form a BRCA1 protein complex required for the DNA damage response.

Wang B, Matsuoka S, Ballif BA, Zhang D, Smogorzewska A, Gygi SP, Elledge SJ.

Science. 2007 May 25;316(5828):1194-8.

39.

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER 3rd, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ.

Science. 2007 May 25;316(5828):1160-6.

40.

Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair.

Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER 3rd, Hurov KE, Luo J, Ballif BA, Gygi SP, Hofmann K, D'Andrea AD, Elledge SJ.

Cell. 2007 Apr 20;129(2):289-301. Epub 2007 Apr 5.

41.

Postmortem urine immunoassay showing false-positive phencyclidine reactivity in a case of fatal tramadol overdose.

Hull MJ, Griggs D, Knoepp SM, Smogorzewska A, Nixon A, Flood JG.

Am J Forensic Med Pathol. 2006 Dec;27(4):359-62.

PMID:
17133040
42.

Effect of fondaparinux on coagulation assays: results of College of American Pathologists proficiency testing.

Smogorzewska A, Brandt JT, Chandler WL, Cunningham MT, Hayes TE, Olson JD, Kottke-Marchant K, Van Cott EM.

Arch Pathol Lab Med. 2006 Nov;130(11):1605-11.

PMID:
17076521
43.

Transfusion medicine illustrated. Volume-reduced apheresis platelets.

Smogorzewska A, Dzik W.

Transfusion. 2005 May;45(5):651. No abstract available.

PMID:
15847649
44.

Homologous recombination generates T-loop-sized deletions at human telomeres.

Wang RC, Smogorzewska A, de Lange T.

Cell. 2004 Oct 29;119(3):355-68.

45.

Paraprotein interference in automated chemistry analyzers.

Smogorzewska A, Flood JG, Long WH, Dighe AS.

Clin Chem. 2004 Sep;50(9):1691-3. No abstract available.

46.

Regulation of telomerase by telomeric proteins.

Smogorzewska A, de Lange T.

Annu Rev Biochem. 2004;73:177-208. Review.

PMID:
15189140
47.

DNA damage foci at dysfunctional telomeres.

Takai H, Smogorzewska A, de Lange T.

Curr Biol. 2003 Sep 2;13(17):1549-56.

48.

DNA ligase IV-dependent NHEJ of deprotected mammalian telomeres in G1 and G2.

Smogorzewska A, Karlseder J, Holtgreve-Grez H, Jauch A, de Lange T.

Curr Biol. 2002 Oct 1;12(19):1635-44.

49.

Different telomere damage signaling pathways in human and mouse cells.

Smogorzewska A, de Lange T.

EMBO J. 2002 Aug 15;21(16):4338-48.

50.

Senescence induced by altered telomere state, not telomere loss.

Karlseder J, Smogorzewska A, de Lange T.

Science. 2002 Mar 29;295(5564):2446-9.

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