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Susan Ackerman

Title(s)HHMI Investigator, Cellular and Molecular Medicine
SchoolHealth Sciences
Phone858-534-8656
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    2019 Translation Machinery in Health and Disease Gordon Research Conference and Seminar
    NIH/NCI R13CA236120Feb 15, 2019 - Feb 14, 2020
    Role: Principal Investigator
    2017 Translation Machinery in Health & Disease Gordon Research Conference and Gordon Research Seminar
    NIH/NCI R13CA213656Mar 1, 2017 - Feb 28, 2018
    Role: Principal Investigator
    Spatiotemporal Regulation of Brain RNase P as a Basis for Neurological Disorders
    NIH/NINDS R21NS096600Apr 1, 2016 - Mar 31, 2018
    Role: Principal Investigator
    Ribosome Dysfunction in Neurological Disorders
    NIH/NINDS R01NS094637Sep 1, 2015 - May 31, 2020
    Role: Principal Investigator
    Genetic Analysis of Neurodegeneration
    NIH/NIA R01AG019358Feb 1, 2002 - Jan 31, 2009
    Role: Principal Investigator
    Genetic Control of Purkinje Cell Degeneration
    NIH/NINDS R01NS042613Sep 30, 2001 - Dec 31, 2014
    Role: Principal Investigator
    GENETIC CONTROL OF NEURODEGENERATION
    NIH/NIA R03AG016072Jul 1, 1998 - Jun 30, 2000
    Role: Principal Investigator
    Neuronal Migration and Cerebellar Foliation
    NIH/NINDS R01NS035900Feb 1, 1997 - Jan 31, 2010
    Role: Principal Investigator
    TARGETED DISRUPTION OF MAMMALIAN GENES
    NIH/NIGMS F32GM012687Nov 30, 1988
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Vo MN, Terrey M, Lee JW, Roy B, Moresco JJ, Sun L, Fu H, Liu Q, Weber TG, Yates JR, Fredrick K, Schimmel P, Ackerman SL. Publisher Correction: ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase. Nature. 2018 08; 560(7720):E35. PMID: 29925958.
      View in: PubMed
    2. Vo MN, Terrey M, Lee JW, Roy B, Moresco JJ, Sun L, Fu H, Liu Q, Weber TG, Yates JR, Fredrick K, Schimmel P, Ackerman SL. ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase. Nature. 2018 05; 557(7706):510-515. PMID: 29769718.
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    3. Kapur M, Ackerman SL. mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease. Trends Genet. 2018 03; 34(3):218-231. PMID: 29352613.
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    4. Kapur M, Monaghan CE, Ackerman SL. Regulation of mRNA Translation in Neurons-A Matter of Life and Death. Neuron. 2017 Nov 01; 96(3):616-637. PMID: 29096076.
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    5. Rousso S, Banh TM, Ackerman S, Piva E, Licht C, Harvey EA. Impact of fill volume on ultrafiltration with icodextrin in children on chronic peritoneal dialysis. Pediatr Nephrol. 2016 10; 31(10):1673-9. PMID: 27178072.
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    6. Ishimura R, Nagy G, Dotu I, Chuang JH, Ackerman SL. Activation of GCN2 kinase by ribosome stalling links translation elongation with translation initiation. Elife. 2016 04 16; 5. PMID: 27085088.
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    7. Garrett AM, Jucius TJ, Sigaud LP, Tang FL, Xiong WC, Ackerman SL, Burgess RW. Analysis of Expression Pattern and Genetic Deletion of Netrin5 in the Developing Mouse. Front Mol Neurosci. 2016; 9:3. PMID: 26858598.
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    8. Chanchlani R, Ackerman S, Piva E, Harvey E. Intraperitoneal Calcitriol for Treatment of Severe Hyperparathyroidism in Children with Chronic Kidney Disease: A Therapy Forgotten. Perit Dial Int. 2016 11-12; 36(6):688-690. PMID: 27903853.
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    9. Poliak S, Morales D, Croteau LP, Krawchuk D, Palmesino E, Morton S, Cloutier JF, Charron F, Dalva MB, Ackerman SL, Kao TJ, Kania A. Synergistic integration of Netrin and ephrin axon guidance signals by spinal motor neurons. Elife. 2015 Dec 03; 4. PMID: 26633881.
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    10. Liu Y, Lee JW, Ackerman SL. Mutations in the microtubule-associated protein 1A (Map1a) gene cause Purkinje cell degeneration. J Neurosci. 2015 Mar 18; 35(11):4587-98. PMID: 25788676.
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    11. Jia Y, Jucius TJ, Cook SA, Ackerman SL. Loss of Clcc1 results in ER stress, misfolded protein accumulation, and neurodegeneration. J Neurosci. 2015 Feb 18; 35(7):3001-9. PMID: 25698737.
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    12. Liu Y, Satz JS, Vo MN, Nangle LA, Schimmel P, Ackerman SL. Deficiencies in tRNA synthetase editing activity cause cardioproteinopathy. Proc Natl Acad Sci U S A. 2014 Dec 09; 111(49):17570-5. PMID: 25422440.
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    13. Ishimura R, Nagy G, Dotu I, Zhou H, Yang XL, Schimmel P, Senju S, Nishimura Y, Chuang JH, Ackerman SL. RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration. Science. 2014 Jul 25; 345(6195):455-9. PMID: 25061210.
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    14. Srivatsa S, Parthasarathy S, Britanova O, Bormuth I, Donahoo AL, Ackerman SL, Richards LJ, Tarabykin V. Unc5C and DCC act downstream of Ctip2 and Satb2 and contribute to corpus callosum formation. Nat Commun. 2014 Apr 17; 5:3708. PMID: 24739528.
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    15. Nagy G, Ackerman SL. Cholesterol metabolism and Rett syndrome pathogenesis. Nat Genet. 2013 Sep; 45(9):965-7. PMID: 23985682.
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    16. Liu Y, Zaun HC, Orlowski J, Ackerman SL. CHP1-mediated NHE1 biosynthetic maturation is required for Purkinje cell axon homeostasis. J Neurosci. 2013 Jul 31; 33(31):12656-69. PMID: 23904602.
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    17. Natarajan S, Li Y, Miller EE, Shih DJ, Taylor MD, Stearns TM, Bronson RT, Ackerman SL, Yoon JK, Yun K. Notch1-induced brain tumor models the sonic hedgehog subgroup of human medulloblastoma. Cancer Res. 2013 Sep 01; 73(17):5381-90. PMID: 23852537.
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    18. Jia Y, Mu JC, Ackerman SL. Mutation of a U2 snRNA gene causes global disruption of alternative splicing and neurodegeneration. Cell. 2012 Jan 20; 148(1-2):296-308. PMID: 22265417.
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    19. Zhao L, Spassieva SD, Jucius TJ, Shultz LD, Shick HE, Macklin WB, Hannun YA, Obeid LM, Ackerman SL. A deficiency of ceramide biosynthesis causes cerebellar purkinje cell neurodegeneration and lipofuscin accumulation. PLoS Genet. 2011 May; 7(5):e1002063. PMID: 21625621.
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    20. Kim D, Ackerman SL. The UNC5C netrin receptor regulates dorsal guidance of mouse hindbrain axons. J Neurosci. 2011 Feb 09; 31(6):2167-79. PMID: 21307253.
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    21. Stum M, McLaughlin HM, Kleinbrink EL, Miers KE, Ackerman SL, Seburn KL, Antonellis A, Burgess RW. An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations. Mol Cell Neurosci. 2011 Feb; 46(2):432-43. PMID: 21115117.
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    22. Zhao L, Rosales C, Seburn K, Ron D, Ackerman SL. Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco-Sjögren syndrome. Hum Mol Genet. 2010 Jan 01; 19(1):25-35. PMID: 19801575.
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    23. Ackerman SL, Cox GA. From ER to Eph receptors: new roles for VAP fragments. Cell. 2008 Jun 13; 133(6):949-51. PMID: 18555770.
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    24. Ishimura R, Martin GR, Ackerman SL. Loss of apoptosis-inducing factor results in cell-type-specific neurogenesis defects. J Neurosci. 2008 May 07; 28(19):4938-48. PMID: 18463247.
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    25. Renaud J, Kerjan G, Sumita I, Zagar Y, Georget V, Kim D, Fouquet C, Suda K, Sanbo M, Suto F, Ackerman SL, Mitchell KJ, Fujisawa H, Chédotal A. Plexin-A2 and its ligand, Sema6A, control nucleus-centrosome coupling in migrating granule cells. Nat Neurosci. 2008 Apr; 11(4):440-9. PMID: 18327254.
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    26. Hu Z, Shanker S, MacLean JA, Ackerman SL, Wilkinson MF. The RHOX5 homeodomain protein mediates transcriptional repression of the netrin-1 receptor gene Unc5c. J Biol Chem. 2008 Feb 15; 283(7):3866-76. PMID: 18077458.
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    27. Bernet A, Mazelin L, Coissieux MM, Gadot N, Ackerman SL, Scoazec JY, Mehlen P. Inactivation of the UNC5C Netrin-1 receptor is associated with tumor progression in colorectal malignancies. Gastroenterology. 2007 Dec; 133(6):1840-8. PMID: 17967459.
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    28. Dillon AK, Jevince AR, Hinck L, Ackerman SL, Lu X, Tessier-Lavigne M, Kaprielian Z. UNC5C is required for spinal accessory motor neuron development. Mol Cell Neurosci. 2007 Jul; 35(3):482-9. PMID: 17543537.
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    29. Lee JW, Beebe K, Nangle LA, Jang J, Longo-Guess CM, Cook SA, Davisson MT, Sundberg JP, Schimmel P, Ackerman SL. Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature. 2006 Sep 07; 443(7107):50-5. PMID: 16906134.
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    30. van Empel VP, Bertrand AT, van Oort RJ, van der Nagel R, Engelen M, van Rijen HV, Doevendans PA, Crijns HJ, Ackerman SL, Sluiter W, De Windt LJ. EUK-8, a superoxide dismutase and catalase mimetic, reduces cardiac oxidative stress and ameliorates pressure overload-induced heart failure in the harlequin mouse mutant. J Am Coll Cardiol. 2006 Aug 15; 48(4):824-32. PMID: 16904556.
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    31. Zhao L, Ackerman SL. Endoplasmic reticulum stress in health and disease. Curr Opin Cell Biol. 2006 Aug; 18(4):444-52. PMID: 16781856.
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    32. Burgess RW, Jucius TJ, Ackerman SL. Motor axon guidance of the mammalian trochlear and phrenic nerves: dependence on the netrin receptor Unc5c and modifier loci. J Neurosci. 2006 May 24; 26(21):5756-66. PMID: 16723533.
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    33. Bock NA, Kovacevic N, Lipina TV, Roder JC, Ackerman SL, Henkelman RM. In vivo magnetic resonance imaging and semiautomated image analysis extend the brain phenotype for cdf/cdf mice. J Neurosci. 2006 Apr 26; 26(17):4455-9. PMID: 16641223.
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    34. Watanabe K, Tamamaki N, Furuta T, Ackerman SL, Ikenaka K, Ono K. Dorsally derived netrin 1 provides an inhibitory cue and elaborates the 'waiting period' for primary sensory axons in the developing spinal cord. Development. 2006 Apr; 133(7):1379-87. PMID: 16510500.
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    35. Xie Y, Hong Y, Ma XY, Ren XR, Ackerman S, Mei L, Xiong WC. DCC-dependent phospholipase C signaling in netrin-1-induced neurite elongation. J Biol Chem. 2006 Feb 03; 281(5):2605-11. PMID: 16321979.
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    36. Xie Y, Ding YQ, Hong Y, Feng Z, Navarre S, Xi CX, Zhu XJ, Wang CL, Ackerman SL, Kozlowski D, Mei L, Xiong WC. Phosphatidylinositol transfer protein-alpha in netrin-1-induced PLC signalling and neurite outgrowth. Nat Cell Biol. 2005 Nov; 7(11):1124-32. PMID: 16244667.
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    37. Zhao L, Longo-Guess C, Harris BS, Lee JW, Ackerman SL. Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP. Nat Genet. 2005 Sep; 37(9):974-9. PMID: 16116427.
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    38. van Empel VP, Bertrand AT, van der Nagel R, Kostin S, Doevendans PA, Crijns HJ, de Wit E, Sluiter W, Ackerman SL, De Windt LJ. Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. Circ Res. 2005 Jun 24; 96(12):e92-e101. PMID: 15933268.
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    39. Munroe RJ, Ackerman SL, Schimenti JC. Genomewide two-generation screens for recessive mutations by ES cell mutagenesis. Mamm Genome. 2004 Dec; 15(12):960-5. PMID: 15599554.
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    40. Herrup K, Neve R, Ackerman SL, Copani A. Divide and die: cell cycle events as triggers of nerve cell death. J Neurosci. 2004 Oct 20; 24(42):9232-9. PMID: 15496657.
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    41. Schwarting GA, Raitcheva D, Bless EP, Ackerman SL, Tobet S. Netrin 1-mediated chemoattraction regulates the migratory pathway of LHRH neurons. Eur J Neurosci. 2004 Jan; 19(1):11-20. PMID: 14750959.
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    42. Klein JA, Ackerman SL. Oxidative stress, cell cycle, and neurodegeneration. J Clin Invest. 2003 Mar; 111(6):785-93. PMID: 12639981.
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    43. Finger JH, Bronson RT, Harris B, Johnson K, Przyborski SA, Ackerman SL. The netrin 1 receptors Unc5h3 and Dcc are necessary at multiple choice points for the guidance of corticospinal tract axons. J Neurosci. 2002 Dec 01; 22(23):10346-56. PMID: 12451134.
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    44. Klein JA, Longo-Guess CM, Rossmann MP, Seburn KL, Hurd RE, Frankel WN, Bronson RT, Ackerman SL. The harlequin mouse mutation downregulates apoptosis-inducing factor. Nature. 2002 Sep 26; 419(6905):367-74. PMID: 12353028.
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    45. Park C, Falls W, Finger JH, Longo-Guess CM, Ackerman SL. Deletion in Catna2, encoding alpha N-catenin, causes cerebellar and hippocampal lamination defects and impaired startle modulation. Nat Genet. 2002 Jul; 31(3):279-84. PMID: 12089526.
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    46. Park C, Finger JH, Cooper JA, Ackerman SL. The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations. Genesis. 2002 Jan; 32(1):32-41. PMID: 11835672.
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    47. Barclay J, Balaguero N, Mione M, Ackerman SL, Letts VA, Brodbeck J, Canti C, Meir A, Page KM, Kusumi K, Perez-Reyes E, Lander ES, Frankel WN, Gardiner RM, Dolphin AC, Rees M. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci. 2001 Aug 15; 21(16):6095-104. PMID: 11487633.
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    48. Beierbach E, Park C, Ackerman SL, Goldowitz D, Hawkes R. Abnormal dispersion of a purkinje cell subset in the mouse mutant cerebellar deficient folia (cdf). J Comp Neurol. 2001 Jul 16; 436(1):42-51. PMID: 11413545.
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    49. Näf D, Wilson LA, Bergstrom RA, Smith RS, Goodwin NC, Verkerk A, van Ommen GJ, Ackerman SL, Frankel WN, Schimenti JC. Mouse models for the Wolf-Hirschhorn deletion syndrome. Hum Mol Genet. 2001 Jan 15; 10(2):91-8. PMID: 11152656.
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    50. Park C, Longo CM, Ackerman SL. Genetic and physical mapping of the cerebellar deficient folia (cdf) locus on mouse chromosome 6. Genomics. 2000 Oct 01; 69(1):135-8. PMID: 11013084.
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    51. Goldowitz D, Hamre KM, Przyborski SA, Ackerman SL. Granule cells and cerebellar boundaries: analysis of Unc5h3 mutant chimeras. J Neurosci. 2000 Jun 01; 20(11):4129-37. PMID: 10818148.
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    52. Przyborski SA, Damjanov I, Knowles BB, Ackerman SL. Differential expression of the zinc finger gene TCF17 in testicular tumors. Cancer Res. 1998 Oct 15; 58(20):4598-601. PMID: 9788609.
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    53. Przyborski SA, Knowles BB, Handel MA, Gurwitch SA, Ackerman SL. Differential expression of the zinc finger gene Zfp105 during spermatogenesis. Mamm Genome. 1998 Sep; 9(9):758-62. PMID: 9716663.
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    54. Ackerman SL, Knowles BB. Cloning and mapping of the UNC5C gene to human chromosome 4q21-q23. Genomics. 1998 Sep 01; 52(2):205-8. PMID: 9782087.
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    55. Przyborski SA, Knowles BB, Ackerman SL. Embryonic phenotype of Unc5h3 mutant mice suggests chemorepulsion during the formation of the rostral cerebellar boundary. Development. 1998 Jan; 125(1):41-50. PMID: 9389662.
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    56. Heyer BS, Warsowe J, Solter D, Knowles BB, Ackerman SL. New member of the Snf1/AMPK kinase family, Melk, is expressed in the mouse egg and preimplantation embryo. Mol Reprod Dev. 1997 Jun; 47(2):148-56. PMID: 9136115.
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    57. Leonardo ED, Hinck L, Masu M, Keino-Masu K, Ackerman SL, Tessier-Lavigne M. Vertebrate homologues of C. elegans UNC-5 are candidate netrin receptors. Nature. 1997 Apr 24; 386(6627):833-8. PMID: 9126742.
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    58. Ackerman SL, Kozak LP, Przyborski SA, Rund LA, Boyer BB, Knowles BB. The mouse rostral cerebellar malformation gene encodes an UNC-5-like protein. Nature. 1997 Apr 24; 386(6627):838-42. PMID: 9126743.
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    59. Leonardo ED, Hinck L, Masu M, Keino-Masu K, Fazeli A, Stoeckli ET, Ackerman SL, Weinberg RA, Tessier-Lavigne M. Guidance of developing axons by netrin-1 and its receptors. Cold Spring Harb Symp Quant Biol. 1997; 62:467-78. PMID: 9598381.
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    60. Hwang S, Benjamin LE, Oh B, Rothstein JL, Ackerman SL, Beddington RS, Solter D, Knowles BB. Genetic mapping and embryonic expression of a novel, maternally transcribed gene Mem3. Mamm Genome. 1996 Aug; 7(8):586-90. PMID: 8678978.
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    61. Ackerman SL, Knowles BB, Andrews PW. Gene regulation during neuronal and non-neuronal differentiation of NTERA2 human teratocarcinoma-derived stem cells. Brain Res Mol Brain Res. 1994 Aug; 25(1-2):157-62. PMID: 7984043.
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    62. Shepherd NS, Pfrogner BD, Coulby JN, Ackerman SL, Vaidyanathan G, Sauer RH, Balkenhol TC, Sternberg N. Preparation and screening of an arrayed human genomic library generated with the P1 cloning system. Proc Natl Acad Sci U S A. 1994 Mar 29; 91(7):2629-33. PMID: 8146166.
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    63. Ackerman SL, Minden AG, Yeung CY. The minimal self-sufficient element in a murine G+C-rich promoter is a large element with imperfect dyad symmetry. Proc Natl Acad Sci U S A. 1993 Dec 15; 90(24):11865-9. PMID: 8265639.
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    64. Ackerman SL, Minden AG, Williams GT, Bobonis C, Yeung CY. Functional significance of an overlapping consensus binding motif for Sp1 and Zif268 in the murine adenosine deaminase gene promoter. Proc Natl Acad Sci U S A. 1991 Sep 01; 88(17):7523-7. PMID: 1881892.
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    65. Ackerman SL, Siegel RW. Chemically reinforced conditioned courtship in Drosophila: responses of wild-type and the dunce, amnesiac and don giovanni mutants. J Neurogenet. 1986 Mar; 3(2):111-23. PMID: 3083073.
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