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Items: 1 to 50 of 299

1.

Identification of ATIC as a Novel Target for Chemoradiosensitization.

Liu X, Paila UD, Teraoka SN, Wright JA, Huang X, Quinlan AR, Gatti RA, Concannon P.

Int J Radiat Oncol Biol Phys. 2018 Jan 1;100(1):162-173. doi: 10.1016/j.ijrobp.2017.08.033. Epub 2017 Sep 21.

PMID:
29029884
2.

Assaying Radiosensitivity of Ataxia-Telangiectasia.

Hu H, Nahas S, Gatti RA.

Methods Mol Biol. 2017;1599:1-11. doi: 10.1007/978-1-4939-6955-5_1.

PMID:
28477107
3.

RNA sequencing reveals the consequences of a novel insertion in dedicator of cytokinesis-8.

Khan S, Kuruvilla M, Hagin D, Wakeland B, Liang C, Vishwanathan K, Gatti RA, Torgersen TR, Abraham RS, Wakeland EK, van Oers NS, de la Morena MT.

J Allergy Clin Immunol. 2016 Jul;138(1):289-292.e6. doi: 10.1016/j.jaci.2015.11.033. Epub 2016 Feb 13. No abstract available.

PMID:
26883462
4.

Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.

Pathak A, Seipel K, Pemov A, Dewan R, Brown C, Ravichandran S, Luke BT, Malasky M, Suman S, Yeager M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Gatti RA, Caporaso NE, Mulvihill JJ, Goldin LR, Pabst T, McMaster ML, Stewart DR.

Haematologica. 2016 Jul;101(7):846-52. doi: 10.3324/haematol.2015.130799. Epub 2015 Dec 31.

5.

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Gómez-Grau M, Garrido E, Cozar M, Rodriguez-Sureda V, Domínguez C, Arenas C, Gatti RA, Cormand B, Grinberg D, Vilageliu L.

PLoS One. 2015 Aug 19;10(8):e0135873. doi: 10.1371/journal.pone.0135873. eCollection 2015.

6.

Ataxia-telangiectasia with female fertility.

Dawson AJ, Marles S, Tomiuk M, Riordan D, Gatti RA.

Am J Med Genet A. 2015 Aug;167A(8):1937-9. doi: 10.1002/ajmg.a.37084. Epub 2015 Apr 25. No abstract available.

PMID:
25914063
7.

Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).

Patel JP, Puck JM, Srinivasan R, Brown C, Sunderam U, Kundu K, Brenner SE, Gatti RA, Church JA.

J Clin Immunol. 2015 Feb;35(2):227-33. doi: 10.1007/s10875-015-0136-6. Epub 2015 Feb 13.

8.

Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.

Björkman A, Qvist P, Du L, Bartish M, Zaravinos A, Georgiou K, Børglum AD, Gatti RA, Törngren T, Pan-Hammarström Q.

Proc Natl Acad Sci U S A. 2015 Feb 17;112(7):2157-62. doi: 10.1073/pnas.1418947112. Epub 2015 Feb 2.

9.

A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity.

Nakamura K, Fike F, Haghayegh S, Saunders-Pullman R, Dawson AJ, Dörk T, Gatti RA.

Mol Genet Genomic Med. 2014 Jul;2(4):332-40. doi: 10.1002/mgg3.72. Epub 2014 Mar 13.

10.

Mass spectrometry-based tissue imaging of small molecules.

Ferguson CN, Fowler JW, Waxer JF, Gatti RA, Loo JA.

Adv Exp Med Biol. 2014;806:283-99. doi: 10.1007/978-3-319-06068-2_12. Review.

11.

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

Stewart DR, Pemov A, Johnston JJ, Sapp JC, Yeager M, He J, Boland JF, Burdett L, Brown C, Gatti RA, Alter BP, Biesecker LG, Savage SA.

PLoS One. 2014 Jun 3;9(6):e98686. doi: 10.1371/journal.pone.0098686. eCollection 2014.

12.

Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Fogel BL, Cho E, Wahnich A, Gao F, Becherel OJ, Wang X, Fike F, Chen L, Criscuolo C, De Michele G, Filla A, Collins A, Hahn AF, Gatti RA, Konopka G, Perlman S, Lavin MF, Geschwind DH, Coppola G.

Hum Mol Genet. 2014 Sep 15;23(18):4758-69. doi: 10.1093/hmg/ddu190. Epub 2014 Apr 23.

13.

Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.

Martin NT, Nakamura K, Paila U, Woo J, Brown C, Wright JA, Teraoka SN, Haghayegh S, McCurdy D, Schneider M, Hu H, Quinlan AR, Gatti RA, Concannon P.

Cell Death Dis. 2014 Mar 20;5:e1130. doi: 10.1038/cddis.2014.99.

14.

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH.

Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19483-8. doi: 10.1073/pnas.1312088110. Epub 2013 Nov 11.

15.

Extreme growth failure is a common presentation of ligase IV deficiency.

Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP.

Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.

16.

A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

Du L, Jung ME, Damoiseaux R, Completo G, Fike F, Ku JM, Nahas S, Piao C, Hu H, Gatti RA.

Mol Ther. 2013 Sep;21(9):1653-60. doi: 10.1038/mt.2013.150. Epub 2013 Jun 18.

17.

ATM-dependent MiR-335 targets CtIP and modulates the DNA damage response.

Martin NT, Nakamura K, Davies R, Nahas SA, Brown C, Tunuguntla R, Gatti RA, Hu H.

PLoS Genet. 2013 May;9(5):e1003505. doi: 10.1371/journal.pgen.1003505. Epub 2013 May 16.

18.

SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.

Lee P, Martin NT, Nakamura K, Azghadi S, Amiri M, Ben-David U, Perlman S, Gatti RA, Hu H, Lowry WE.

Nat Commun. 2013;4:1824. doi: 10.1038/ncomms2824.

PMID:
23652012
19.

Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.

Ambrose M, Gatti RA.

Blood. 2013 May 16;121(20):4036-45. doi: 10.1182/blood-2012-09-456897. Epub 2013 Feb 25. Review.

20.

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Cavalieri S, Pozzi E, Gatti RA, Brusco A.

Eur J Hum Genet. 2013 Jul;21(7):774-8. doi: 10.1038/ejhg.2012.266. Epub 2012 Dec 5.

21.

Aberrant overexpression of miR-421 downregulates ATM and leads to a pronounced DSB repair defect and clinical hypersensitivity in SKX squamous cell carcinoma.

Mansour WY, Bogdanova NV, Kasten-Pisula U, Rieckmann T, Köcher S, Borgmann K, Baumann M, Krause M, Petersen C, Hu H, Gatti RA, Dikomey E, Dörk T, Dahm-Daphi J.

Radiother Oncol. 2013 Jan;106(1):147-54. doi: 10.1016/j.radonc.2012.10.020. Epub 2012 Nov 28.

PMID:
23199656
22.

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide.

Mancini C, Vaula G, Scalzitti L, Cavalieri S, Bertini E, Aiello C, Lucchini C, Gatti RA, Brussino A, Brusco A.

Neurogenetics. 2012 Aug;13(3):205-14. doi: 10.1007/s10048-012-0331-z. Epub 2012 May 3.

23.

SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic models.

Gatti RA.

Ann N Y Acad Sci. 2012 Feb;1250:33-40. doi: 10.1111/j.1749-6632.2012.06467.x. Review.

24.

Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.

Vece TJ, Schecter MG, Gatti RA, Tunuguntla R, Garcia CK, Langston C, Dishop MK, Moore RH, Fan LL.

J Pediatr. 2012 Apr;160(4):700-702.e3. doi: 10.1016/j.jpeds.2011.12.001. Epub 2012 Jan 10.

25.

Common copy number variations in fifty radiosensitive cell lines.

Li X, Zhou J, Nahas SA, Wan H, Hu H, Gatti RA.

Genomics. 2012 Feb;99(2):96-100. doi: 10.1016/j.ygeno.2011.11.001. Epub 2011 Nov 9.

26.

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

Nakamura K, Du L, Tunuguntla R, Fike F, Cavalieri S, Morio T, Mizutani S, Brusco A, Gatti RA.

Hum Mutat. 2012 Jan;33(1):198-208. doi: 10.1002/humu.21632. Epub 2011 Nov 9.

27.

Heterotopic Purkinje cells in ataxia-telangiectasia.

Bottini AR, Gatti RA, Wirenfeldt M, Vinters HV.

Neuropathology. 2012 Feb;32(1):23-9. doi: 10.1111/j.1440-1789.2011.01210.x. Epub 2011 Mar 29.

PMID:
21978196
28.

Comprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival.

Nahas SA, Davies R, Fike F, Nakamura K, Du L, Kayali R, Martin NT, Concannon P, Gatti RA.

Radiat Res. 2012 Feb;177(2):176-86. Epub 2011 Sep 30.

29.

Defective DNA double-strand break repair in pediatric systemic lupus erythematosus.

Davies RC, Pettijohn K, Fike F, Wang J, Nahas SA, Tunuguntla R, Hu H, Gatti RA, McCurdy D.

Arthritis Rheum. 2012 Feb;64(2):568-78. doi: 10.1002/art.33334.

30.

Synthesis and evaluation of compounds that induce readthrough of premature termination codons.

Jung ME, Ku JM, Du L, Hu H, Gatti RA.

Bioorg Med Chem Lett. 2011 Oct 1;21(19):5842-8. doi: 10.1016/j.bmcl.2011.07.107. Epub 2011 Aug 4.

PMID:
21873052
31.

Ataxia-telangiectasia.

Perlman SL, Boder Deceased E, Sedgewick RP, Gatti RA.

Handb Clin Neurol. 2012;103:307-32. doi: 10.1016/B978-0-444-51892-7.00019-X. Review. No abstract available.

PMID:
21827897
32.

Assessing 'radiosensitivity' with kinetic profiles of γ-H2AX, 53BP1 and BRCA1 foci.

Martin NT, Nahas SA, Tunuguntla R, Fike F, Gatti RA.

Radiother Oncol. 2011 Oct;101(1):35-8. doi: 10.1016/j.radonc.2011.05.065. Epub 2011 Jun 30.

33.

Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia.

Li J, Chen J, Vinters HV, Gatti RA, Herrup K.

J Neurosci. 2011 May 18;31(20):7568-77. doi: 10.1523/JNEUROSCI.0778-11.2011.

34.

Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.

Du L, Kayali R, Bertoni C, Fike F, Hu H, Iversen PL, Gatti RA.

Hum Mol Genet. 2011 Aug 15;20(16):3151-60. doi: 10.1093/hmg/ddr217. Epub 2011 May 16.

35.

High throughput screening of small molecule libraries for modifiers of radiation responses.

Kim K, Damoiseaux R, Norris AJ, Rivina L, Bradley K, Jung ME, Gatti RA, Schiestl RH, McBride WH.

Int J Radiat Biol. 2011 Aug;87(8):839-45. doi: 10.3109/09553002.2011.560994. Epub 2011 Mar 14.

36.

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.

Devgan SS, Sanal O, Doil C, Nakamura K, Nahas SA, Pettijohn K, Bartek J, Lukas C, Lukas J, Gatti RA.

Cell Death Differ. 2011 Sep;18(9):1500-6. doi: 10.1038/cdd.2011.18. Epub 2011 Mar 11.

37.

A history of bone marrow transplantation.

de la Morena MT, Gatti RA.

Hematol Oncol Clin North Am. 2011 Feb;25(1):1-15. doi: 10.1016/j.hoc.2010.11.001.

PMID:
21236386
38.

MicroRNAs: new players in the DNA damage response.

Hu H, Gatti RA.

J Mol Cell Biol. 2011 Jun;3(3):151-8. doi: 10.1093/jmcb/mjq042. Epub 2010 Dec 23. Review.

39.

Potential therapeutic applications of antisense morpholino oligonucleotides in modulation of splicing in primary immunodeficiency diseases.

Du L, Gatti RA.

J Immunol Methods. 2011 Feb 28;365(1-2):1-7. doi: 10.1016/j.jim.2010.12.001. Epub 2010 Dec 13. Review.

40.

AID-induced genotoxic stress promotes B cell differentiation in the germinal center via ATM and LKB1 signaling.

Sherman MH, Kuraishy AI, Deshpande C, Hong JS, Cacalano NA, Gatti RA, Manis JP, Damore MA, Pellegrini M, Teitell MA.

Mol Cell. 2010 Sep 24;39(6):873-85. doi: 10.1016/j.molcel.2010.08.019.

41.

ATM-deficient thymic lymphoma is associated with aberrant tcrd rearrangement and gene amplification.

Zha S, Bassing CH, Sanda T, Brush JW, Patel H, Goff PH, Murphy MM, Tepsuporn S, Gatti RA, Look AT, Alt FW.

J Exp Med. 2010 Jul 5;207(7):1369-80. doi: 10.1084/jem.20100285. Epub 2010 Jun 21.

42.

Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study.

Bernstein JL, Haile RW, Stovall M, Boice JD Jr, Shore RE, Langholz B, Thomas DC, Bernstein L, Lynch CF, Olsen JH, Malone KE, Mellemkjaer L, Borresen-Dale AL, Rosenstein BS, Teraoka SN, Diep AT, Smith SA, Capanu M, Reiner AS, Liang X, Gatti RA, Concannon P; WECARE Study Collaborative Group.

J Natl Cancer Inst. 2010 Apr 7;102(7):475-83. doi: 10.1093/jnci/djq055. Epub 2010 Mar 19.

43.

A history of bone marrow transplantation.

de la Morena MT, Gatti RA.

Immunol Allergy Clin North Am. 2010 Feb;30(1):1-15. doi: 10.1016/j.iac.2009.11.005. Review.

PMID:
20113883
44.

ATM is down-regulated by N-Myc-regulated microRNA-421.

Hu H, Du L, Nagabayashi G, Seeger RC, Gatti RA.

Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1506-11. doi: 10.1073/pnas.0907763107. Epub 2010 Jan 4.

45.

Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation.

Pietrucha BM, Heropolitańska-Pliszka E, Wakulińska A, Skopczyńska H, Gatti RA, Bernatowska E.

J Pediatr Hematol Oncol. 2010 Jan;32(1):e28-30. doi: 10.1097/MPH.0b013e3181bfd3d9.

PMID:
20051774
46.

High-throughput screening identifies two classes of antibiotics as radioprotectors: tetracyclines and fluoroquinolones.

Kim K, Pollard JM, Norris AJ, McDonald JT, Sun Y, Micewicz E, Pettijohn K, Damoiseaux R, Iwamoto KS, Sayre JW, Price BD, Gatti RA, McBride WH.

Clin Cancer Res. 2009 Dec 1;15(23):7238-45. doi: 10.1158/1078-0432.CCR-09-1964. Epub 2009 Nov 17.

47.

DNA double strand break repair defects, primary immunodeficiency disorders, and 'radiosensitivity'.

Nahas SA, Gatti RA.

Curr Opin Allergy Clin Immunol. 2009 Dec;9(6):510-6. doi: 10.1097/ACI.0b013e328332be17. Review.

PMID:
19858715
48.

Nonaminoglycoside compounds induce readthrough of nonsense mutations.

Du L, Damoiseaux R, Nahas S, Gao K, Hu H, Pollard JM, Goldstine J, Jung ME, Henning SM, Bertoni C, Gatti RA.

J Exp Med. 2009 Sep 28;206(10):2285-97. doi: 10.1084/jem.20081940. Epub 2009 Sep 21.

49.

Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.

Morio T, Takahashi N, Watanabe F, Honda F, Sato M, Takagi M, Imadome KI, Miyawaki T, Delia D, Nakamura K, Gatti RA, Mizutani S.

Int J Hematol. 2009 Nov;90(4):455-462. doi: 10.1007/s12185-009-0408-0. Epub 2009 Aug 25.

PMID:
19705055
50.

Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.

Yanofsky RA, Seshia SS, Dawson AJ, Stobart K, Greenberg CR, Booth FA, Prasad C, Del Bigio MR, Wrogemann JJ, Fike F, Gatti RA.

Can J Neurol Sci. 2009 Jul;36(4):462-7.

PMID:
19650357

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