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Genetics Students |
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Genetics Students |
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Genetics |
Christin D. Collins |
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Advanced Concentration |
Genetics |
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Mentor |
Jin-Xiong She, Ph.D. |
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Department |
Pathology, Immunology & Laboratory Medicine |
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Enrolled |
August 1999 |
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Lab Room |
Medical College of Georgia |
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Lab Phone |
(706) 733-0188 x3596 |
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Education |
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Dissertation Research |
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Publications |
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Yang L, Zhao H, Li SW, Ahrens K, Collins C, Eckenrode S, Ruan QG, McIndoe RA, She JX. Gene expression profiling during all-trans retinoic acid-induced cell differentiation of acute promyelocytic leukemia cells. J Mol Diagn. 2003 Nov;5(4):212-21. abstract |
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Zhu H, Zhao H, Collins CD, Eckenrode SE, Ruan Q, McIndoe RA, Crawford JM, Nelson DR, She JX, Liu C. Gene expression associated with interferon alfa antiviral activity in an HCV replicon cell line. Hepatology. 2003 May;37(5):1180-8. abstract |
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Abstracts Presented at Meetings |
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Honors & Awards |
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Thomas J. Conlon |
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Advanced Concentration |
Genetics |
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Mentor |
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Department |
Pediatrics; Molecular Genetics & Microbiology |
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Enrolled |
August 1998 |
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Lab Room |
RG-187 |
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Lab Phone |
846-2731 |
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Education |
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Dissertation Research |
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Publications |
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Loiler SA, Conlon TJ, Song S, Tang Q, Warrington KH, Agarwal A, Kapturczak M, Li C, Ricordi C, Atkinson MA, Muzyczka N, Flotte TR. Targeting recombinant adeno-associated virus vectors to enhance gene transfer to pancreatic islets and liver. Gene Ther. 2003 Sep;10(18):1551-8. abstract |
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Owen R 4th, Mandel RJ, Ammini CV, Conlon TJ, Kerr DS, Stacpoole PW, Flotte TR. Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors. Mol Ther. 2002 Sep;6(3):394-9. abstract |
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Wu P, Xiao W, Conlon T, Hughes J, Agbandje-McKenna M, Ferkol T, Flotte T, Muzyczka N. Mutational analysis of the adeno-associated virus type 2 (AAV2) capsid gene and construction of AAV2 vectors with altered tropism. J Virol. 2000 Sep;74(18):8635-47. abstract |
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Abstracts Presented at Meetings |
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Honors & Awards |
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Kerry O. Cresawn |
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Advanced Concentration |
Genetics |
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Mentor |
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Department |
Molecular Genetics & Microbiology |
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Enrolled |
August 1998 - May 2004 |
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Lab Room |
RG-150 |
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Lab Phone |
846-2887 |
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Education |
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Dissertation Research |
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Liver-directed strategies and immunologic consequences of recombinant AAV-mediated cross-correction of glycogen storage disease type II Pompe disease is an
inherited pediatric disease that affects approximately 1 in 40,000
infants and leads to cardio-respiratory failure by the age of two. Pompe
disease results from a complete or near-complete deficiency in the
enzyme acid alpha-glucosidase (GAA), which is responsible for the
breakdown of glycogen, a storage form of glucose. In the absence of GAA,
glycogen accumulates in all cells, resulting in disruption of cellular
function, particularly in the heart, diaphragm and other skeletal
muscles. There are no effective, established treatments for Pompe
disease; however, enzyme replacement therapy (ERT) clinical trials are
currently underway. Gene replacement therapy provides an alternative to
ERT for Pompe disease and is the only therapeutic option for many other
genetic diseases. Using engineered viruses, gene therapy replaces a
defective gene by inserting a copy of the correct gene into the patient’s
genome. The objectives of this research were to investigate two
important obstacles that need to be addressed before gene therapy can
successfully be applied to the treatment of Pompe disease: 1. Achieving
high enough levels of GAA expression to reduce glycogen accumulation and
2. Inhibiting the immune response that could potentially be formed
against the therapeutic protein and result in decreased efficacy of the
treatment. In order to address these issues, we generated gene therapy
vectors capable of expressing high enough levels of GAA to substantially
reduce glycogen accumulation. To further understand the nature and
threat of the immune response, we developed two separate mouse models of
Pompe disease that are incapable of forming an immune response to the
treatment (tolerized). The results obtained after evaluating the
high-expressing vectors in both normal and tolerized Pompe mice provide
the groundwork for future clinical trials that will ideally lead to the
reversal of the symptoms associated with Pompe disease and improve
survival. |
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Publications |
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Mah C, Fraites TJ Jr, Cresawn KO, Zolotukhin I, Lewis MA, Byrne BJ. A new method for recombinant adeno-associated virus vector delivery to murine diaphragm. Mol Ther. 2004 Mar;9(3):458-63. abstract |
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Abstracts Presented at Meetings |
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Cresawn,KO, Porvasnik,SL, Raben,R, Plotz, PR and BJ Byrne. Inhibition of Humoral Immunity in Liver-Targeted Gene Therapy for Glycogen Storage Disease Type II. American Society of Gene Therapy 5th Annual Meeting, June 5-9, 2002. Molecular Ther., Vol 5, (5) Part 2 of 2; S342, May 2002. |
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Honors & Awards |
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Hui-Jia Dong |
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Advanced Concentration |
Genetics |
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Mentor |
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Department |
Molecular Genetics & Microbiology |
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Enrolled |
August 2000 |
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Lab Room |
RG-277 |
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Lab Phone |
392-4101 |
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Education |
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B.S., Microbiology |
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Dissertation Research |
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Publications |
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Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet. 2001 Dec;38(12):834-45. abstract |
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Abstracts Presented at Meetings |
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Honors & Awards |
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Jason J. Fritz |
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Advanced Concentration |
Genetics |
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Mentor |
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Department |
Molecular Genetics & Microbiology |
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Enrolled |
August 1997 |
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Lab Room |
R1-236 |
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Lab Phone |
392-3318 |
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Education |
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B.S., University of South Florida |
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Dissertation Research |
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Publications |
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Fritz JJ, Lewin A, Hauswirth W, Agarwal A, Grant M, Shaw L. Development of hammerhead ribozymes to modulate endogenous gene expression for functional studies. Methods. 2002 Oct;28(2):276-85. abstract |
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Fritz JJ, White DA, Lewin AS, Hauswirth WW. Designing and characterizing hammerhead ribozymes for use in AAV vector-mediated retinal gene therapies. Methods Enzymol. 2002;346:358-77. abstract |
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Abstracts Presented at Meetings |
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Honors & Awards |
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Rahul N. Kanadia |
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Advanced Concentration |
Genetics |
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Mentor |
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Department |
Molecular Genetics & Microbiology |
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Enrolled |
August 1999 - May 2004 |
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Lab Room |
R1-183 |
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Lab Phone |
392-8024 |
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Education |
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Dissertation Research |
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Involvement
of muscleblind proteins in pathogenesis of myotonic dystrophy |
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Publications |
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Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS. A muscleblind knockout model for myotonic dystrophy. Science. 2003 Dec 12;302(5652):1978-80. abstract |
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Kanadia RN, Urbinati CR, Crusselle VJ, Luo D, Lee YJ, Harrison JK, Oh SP, Swanson MS. Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3. Gene Expr Patterns. 2003 Aug;3(4):459-62. abstract |
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Abstracts Presented at Meetings |
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Honors & Awards |
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Lee Kaplan |
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Advanced Concentration |
Genetics |
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Mentor |
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Department |
Molecular Genetics & Microbiology |
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Enrolled |
August 2001 |
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Lab Room |
RG-285 |
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Lab Phone |
392-6453 |
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Education |
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B.S., Psychology and Genetics, University of Stellenbosch (South Africa) |
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Dissertation Research |
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Examining the genetic influences in pain in normal individuals as well as patients with chronic pain syndromes such as Fibromyalgia and Irritable bowel syndrome |
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Publications |
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Mogil JS, Wilson SG, Chesler EJ, Rankin AL, Nemmani KV, Lariviere WR, Groce MK, Wallace MR, Kaplan L, Staud R, Ness TJ, Glover TL, Stankova M, Mayorov A, Hruby VJ, Grisel JE, Fillingim RB. The melanocortin-1 receptor gene mediates female-specific mechanisms of analgesia in mice and humans. Proc Natl Acad Sci USA. 2003 Apr 15;100(8):4867-72. abstract |
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Metcalf T, Kelley K, Erdos GW, Kaplan L, West CM. Formation of the outer layer of the Dictyostelium spore coat depends on the inner-layer protein SP85/PsB. Microbiology. 2003 Feb;149(Pt 2):305-17. abstract |
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West CM, Zhang P, McGlynn AC, Kaplan L. Outside-in signaling of cellulose synthesis by a spore coat protein in Dictyostelium. Eukaryot Cell. 2002 Apr;1(2):281-92. abstract |
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Van Der Wel H, Morris HR, Panico M, Paxton T, Dell A, Kaplan L, West CM. Molecular cloning and expression of a UDP-N-acetylglucosamine (GlcNAc):hydroxyproline polypeptide GlcNAc-transferase that modifies Skp1 in the cytoplasm of dictyostelium. J Biol Chem. 2002 Nov 29;277(48):46328-37. abstract |
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Abstracts Presented at Meetings |
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Hill-Harfe, Katherine, Lee Kaplan, Heather Stalker, Roberto Zori, Margaret Wallace. Molecular Analysis of a Translocation Breakpoint in a Family with Dominant Skeletal Dysplasia: Toward a Novel Gene/Mechanism. American College of Medical Genetics Annual Clinical Genetics Meeting, 2004, Orlando Florida. (Poster jointly presented with Dr. Hill-Harfe). |
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Kaplan, L., R. Fillingim, M. Agbandje-McKenna, R. Staud, T. Glover, C. Campbell, J. Mogil, M. Wallace. Functional Effects of the t80g snp of the delta opioid Receptor in Baseline Pain Sensitivity. The 2nd Joint Scientific Meeting of the American Pain Society and the Canadian Pain Society 2004, Vancouver, BC. |
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Fillingim, R., L. Kaplan, R. Staud, T. Ness, T. Glover, C. Campbell, J. Mogil, M. Wallace The A118G single nucleotide polymorphism of the mu-opioid receptor gene (OPRM1) is associated with pressure pain sensitivity in humans. The 2nd Joint Scientific Meeting of the American Pain Society and the Canadian Pain Society, 2004,Vancouver, BC. |
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Honors & Awards |
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2003-04 President, University of Florida College of Medicine Graduate Student Organization |
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2003-present Menber of the American Pain Society |
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2002-present Member of the American Society of Human Genetics |
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2002-03 Vice President, Univ. Florida College of Medicine Graduate Student Organization |
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Christine Mione Kiefer |
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Advanced Concentration |
Genetics |
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Mentor |
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Department |
Biochemistry & Molecular Biology |
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Enrolled |
August 1998 |
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Lab Room |
R3-277 |
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Lab Phone |
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846-1636 |
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Education |
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B.S., Microbiology, B.A., Chemistry, Florida Atlantic University |
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Dissertation Research |
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The Regulation of Imprinted Gene Expression on Mouse Chromosome 7 |
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Publications |
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Kang SH, Kiefer CM, Yang TP. Role of the promoter in maintaining transcriptionally active chromatin structure and DNA methylation patterns in vivo. Mol Cell Biol. 2003 Jun;23(12):4150-61. abstract |
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Abstracts Presented at Meetings |
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Honors & Awards |
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Danielle M. Maatouk |
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Advanced Concentration |
Genetics |
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Mentor |
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Department |
Molecular Genetics & Microbiology |
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Enrolled |
August 1999 |
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Lab Room |
RG-273 |
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Lab Phone |
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392-3205 |
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Education |
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Dissertation Research |
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Publications |
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Maatouk DM, Resnick JL. Continuing primordial germ cell differentiation in the mouse embryo is a cell-intrinsic program sensitive to DNA methylation. Dev Biol. 2003 Jun 1;258(1):201-8. abstract |
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Abstracts Presented at Meetings |
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Honors & Awards |
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