Publications

Publications   pre-1995    1995-1999     2000-2004     2005-2007
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2005-2007

Howell GR, Libby TR, Jakobs TC, Phalan FC, Barter JW, Barbay JM, Smith RS, Wihtmore AV, Masland RH, John SWM. Submitted. Axons of retinal ganglion cells are insulted in the lamina early in a mouse glaucoma.

Stevens B, Allen NJ, Christopherson KS, Vazquez LE, Huberman AD, Nouri N, Howell GR, Stafford B, Sher A, Litke AM, Lambris JD, John SWM, Barres BA. In Press. The classical complement cascade mediates development CNS synapse elimination.

Brooks BP, Larson DM, Chan C-C, Kjellstrom S, Smith RS, Crawford MA,  Lamoreus L, Huizing M, Hess R, Jiao X, Hejtmancik FJ, Maminishkis A, John SWM, Bush R, Pavan. 2007. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci In Press

Howell GR, Libby RT, Marchant JK, Wilson LA, Cosma IM, Smith RS, Anderson MG, John SWM. 2007. Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. BMC Genet 8:45

Fox MA, Sanes JR, Borza, DB, Eswarakumar VP, Fassler R, Hudson B, John SWM, Ninomiya Y, Pedchenko V, Rheault M, Sado Y, Segal Y, Werle MJ, Umemori H. 2007. Distinct targeted-derived signals organize formation, maturation and maintenance of motor nerve terminals. Cell 129: 179-193

Gould DB, Marchant JK, Savinova OV, Smith RS, John SWM. 2007. Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet http://hmg.oxfordjournals.org/cgi/reprint/ddm024v1

Gould DB, Reedy M, Wilson LA, Smith RS, Johnson RL, John SWM. 2006. Mutant myocilin non-secretion in vivo is not sufficient to cause glaucoma. Mol Cell Biol 26: 8427-8436

Anderson MG, Libby RT, Mao M, Cosma IM, Wilson LA, Smith RS, John SWM. 2006. Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. BMC Biol 4:20 http://www.biomedcentral.com/content/pdf/1741-7007-4-20.pdf

Anderson MG, Haraszti T, Petersen GE, Wirick S, Jacobsen C, John SWM, Grunze M. 2006. Scanning transmission X-ray microscopic analysis of purified melanosomes of the mouse iris. Micron 37: 689-698

Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Germaine Bousser M, Heutink P, Miner JH, Tournier-Lasserve E, John SWM. 2006. Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N E J Med 354: 1489-1496

Breedveld G, de Coo RF, Lequin MH, Arts WF, Heutink P, Gould DB, John SWM, Oostra B, Mancini GM. 2005. Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. J Med Genet 43: 490-495

Jakobs TC, Libby RT, Ben Y, John SWM, Masland RH. 2005. Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice. J Cell Biol 171:313-325

Libby RT, Anderson MG, Pang I-H, Robinson Z, Savinova OV, Cosma IM, Snow A, Wilson LA, Smith RS, Clark AF, John SWM. 2005. Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration. Vis Neurosci 22: 637-648

Libby RT, Yan L, Savinova OV, Barter J, Smith RS, Nickells RW, John SWM. 2005. Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage. PLoS Genet 1: 17-26 http://genetics.plosjournals.org/perlserv/?request=get-document&doi=10.1371/journal.pgen.0010004

Hagaman JR, John SWM, Xu L, Smithies O, Maeda N. 2005 An improved technique for tail-cuff blood pressure measurements with dark-tailed mice. Contemp Top Lab Anim Sci 44: 43-46

Gould DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SWM. 2005. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science 308: 1167-1171

Anderson MG, Libby RT, Gould DB, Smith RS, John SWM. 2005. High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma. Proc Natl Acad Sci USA 102: 4566-4571 http://www.pnas.org/cgi/content/full/102/12/4566

2000-2004

Link BA, Gray MP, Smith RS, John SWM. 2004. Intraocular pressure in zebrafish: comparison of inbred strains and identification of a reduced melanin mutant with raised IOP. Invest Ophthalmol Vis Sci 45: 4415-4422

Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SWM. 2004. Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol 24:9019-9025

Wang D, Oparil S, Feng JI, Li P, Perry G, Chen LB, Dai M, John SWM, Chen YF. 2003. Effects of pressure overload on extracellular matrix expression in the heart of the atrial natriuretic peptide null mouse. Hypertension 42: 88-95

Mo JS, Anderson MG, Gregory M, Smith RS, Savinova OV, Serreze DV, Ksander BR, Streilein JW, John SWM. 2003. By altering ocular immune privilege, bone marrow-derived cells pathogenically contribute to DBA/2J pigmentary glaucoma. J Exp Med 197: 1335-1344

Lehmann OJ, Tuft S, Brice G, Smith RS, Blixt A, Bell R, Jordan T, Hitchings RA, Khaw PT, John SWM, Carlsson P, Bhattacharya SS. 2003. Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function. Invest Ophthalmol Vis Sci 44: 2627-2633

Libby RT, Smith RS, Savinova OV, Zabaleta A, Martin JE, Gonzalez FJ, John SWM. 2003. Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science 299: 1578-1581 http://www.sciencemag.org/cgi/content/full/299/5612/1578?ijkey=RnOYI2djaEVuI&keytype=ref&siteid=sci

Sugiyama F, Churchill GA, Li R, Libby LJM, Carver T, Yagami K-I, John SWM, Paigen B. 2002. Quantitative trait loci associated with blood pressure, heart rate and heart weight in CBA/CaJ and BALB/cJ mice. Physiol Genomics 10: 5-12

Kim HS, Lee G, John SWM, Maeda N, Smithies O. 2002. Molecular phenotying for analyzing subtle genetic effects in mice: application to an angiotensinogen gene titration. Proc Natl Acad Sci USA 99: 4602-4607

Smith RS, Korb D, John SWM. 2002. A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve. Mol Vis 8: 26-31 http://www.molvis.org/molvis/v8a4/

Anderson MG, Smith RS, Hawes NL, Zabaleta A, Chang B, Wiggs JL, John SWM. 2002. Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet 30: 81-85

Kim BS, Savinova OV, Reedy MV, Martin J, Lun Y, Gan L, Smith RS, Tomarev SI, John SWM, Johnson RL. 2001. Targeted disruption of myocilin (Myoc) suggests that human glaucoma-causing mutations are gain of function. Mol Cell Biol 21: 7707-7713

Chen Z, Karaplis AC, Ackerman SL, Pogribny IP, Melnyk S, Lussier-Cacan S, Chen MF, Pai A, John SWM, Smith RS, Bottiglieri T, Bagley P, Selhub J, Rudnicki MA, James, SJ, Rozen R. 2001. Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet 10: 433-443

Smith RS, Zabaleta A, Savinova OV, John SWM. 2001. The mouse anterior chamber angle and trabecular meshwork develop without cell death. BMC Dev Biol 1: 3 http://www.biomedcentral.com/1471-213X/1/3

Chang B, Smith RS, Peters M, Savinova OV, Hawes NL, Zabaleta A, Nusinowitz S, Martin JE, Davisson MT, Cepko CL, Hogan BLM, John SWM. 2001. Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure. BMC Genetics 2:18 http://www.biomedcentral.com/1471-2156/2/18

Savinova OV, Sugiyama F, Martin JE, Tomarev SI, Paigen BJ, Smith RS, John SWM. 2001. Intraocular pressure in genetically distinct mice: an update and strain survey. BMC Genetics 2:12 http://www.biomedcentral.com/1471-2156/2/12

Anderson MG, Smith RS, Savinova OV, Hawes NL, Chang B, Zabaleta A, Wilpan R, Heckenlively JR, Davisson MT, John SWM. 2001. Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice. BMC Genetics 2: 1 http://www.biomedcentral.com/1471-2156/2/1

Vera N, Yat Tse M, Watson JD, Sarda S, Steinhelper ME, John SWM, Flynn TG, Pang SC. 2000. Altered expression of natriuretic peptide receptors in proANP gene disrupted mice. Cardiovasc Res 46: 595-603

Smith RS, Zabaleta A, Kume T, Savinova OV, Kidson SH, Martin JE, Nishimura DY, Alward WL, Hogan BLM, John SWM. 2000. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet 9: 1021-1032

Munroe RJ, Bergstron RA, Zheng QY, Libby B, Smith RS, John SWM, Schimenti KJ, Browning VL, Schimenti JC. 2000. Mouse mutants from chemically mutagenized embryonic stem cells. Nat Genet 24: 318-321

Smith RS, John SWM, Zabaleta A, Davisson MT, Hawes NL, Chang B. 2000. The Bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization. Proc Natl Acad Sci USA 97: 2191-2195

1995-1999

Hawes NL, Smith RS, Chang B, Davisson MT, Heckenlively JR, John SWM. 1999. Mouse fundus photography and angiography: A catalogue of normal and mutant phenotypes. Mol. Vis 5: 22-29.

Chang B, Smith RS, Hawes NL, Anderson MG, Zabaleta A, Savinova O, Roderick TH, Heckenlively JR, Davisson MT, John SWM. 1999. Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice. Nat Genet 21: 405-409

John SWM, Smith RS, Hawes NL, Savinova OV, Chang B, Turnbull D, Davisson MT, Roderick TH, Heckenlively JR. 1998. Essential Iris atrophy, pigment dispersion and glaucoma in DBA2/J mice. Invest Ophthalmol Vis Sci 39: 951-962

Oliver PM, John SWM, Purdy KE, Kim R, Maeda N, Goy M, Smithies O, 1998. Natriuretic peptide receptor 1 expression influences blood pressures of mice in a dose dependent manner. Proc Natl Acad Sci USA 95: 2547-2551

Savinova OV, Matsukawa N, Smithies O, John SWM. 1997. Mouse natriuretic peptide receptor 3 gene maps to proximal Chromosome 15. Mamm Genome 8:788

MacTaggart TE, Ito M, Smithies O, John SWM. 1997. Mouse angiotensin receptor genes Agtr1a and Agtr1b map to Chromosomes 13 and 3. Mamm Genome 8:294-295

John SWM, Hagaman JR, MacTaggart TE, Peng L, Smithies O. 1997. Intraocular pressure in inbred mouse strains. Invest Ophthalmol Vis Sci 38:249-253

Huang H, John SWM, Steinhelper ME. 1996. Organization of the mouse cardiac natriuretic peptide locus encoding BNP and ANP. J Mol Cell Cardiol 28: 1823-1828

John SWM, Veress AT, Honrath U, Chong CK, Peng L, Smithies O, Sonnenberg H. 1996. Blood pressure and fluid electrolyte balance in mice with reduced or absent ANP gene expression. Am J Physiol 271:R109-114

Krege JH, John SWM, Hodgin JB, Hagaman JR, Langenbach LL, Bachman ES, Jennette JC, O'Brien DA, Smithies O. 1995. Male-female differences in fertility and blood pressure in mice deficient in angiotensin-converting enzyme ACE. Nature 375:146-8

John SWM, Krege JH, Oliver PM, Hagaman JR, Hodgin JB, Pang SC, Flynn TG, Smithies O. 1995. Genetic decreases in atrial natriuretic peptide and salt-sensitive hypertension. Science 267:679-81

Pre-1995

Detloff PJ, Lewis J, John SWM, Shehee WR, Langenbach R, Maeda N, Smithies O. 1994. Deletion and replacement of the mouse adult ï?¢-globin genes by a "plug and socket" repeated targeting strategy. Mol Cell Biol 14:6936-43

Lyonnet S, Melle D, DeBraekeleer M, Laframboise R, Rey F, John SWM, Berthelon M, Berthelot J, Journel H, Le Marec B, Parent P, Parscau L, Saudubray J-M, Rozen R, Rey J, Munnich A, Scriver CR. 1992. Time and space clusters of the French Canadian M1V phenylketonuria mutation in France. Am J Hum Genet 51:191-6

John SWM, Scriver CR, Rozen R. 1992. In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus. Hum Mutat 1:147-53

John SWM, Rozen R, Laframboise R, Laberge C, Scriver CR. 1992. Five mutations at the PAH locus account for almost 90% of PKU mutations in French Canadians from eastern Quebec. Hum Mutat 1:72-4

Italiano C, John SWM, Hum DW, MacKenzie RE, Rozen R. 1991. A pseudogene on the X chromosome for the human trifunctional enzyme, MTHFD (methylenetetrahydrofolate dehydrogenase-methylenetetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase). Genomics 10:1073-4

John SWM, Weitzner G, Rozen R, Scriver CR. 1991. A rapid procedure for extracting genomic DNA from leukocytes. Nucleic Acids Res 19:408

John SWM, Rozen R, Scriver CR, Laframboise R, Laberge C. 1990. Recurrent mutation, gene conversion or recombination at the human phenylalanine hydroxylase locus: evidence in French Canadians and a catalog of mutations. Am J Hum Genet 46:970-4

John SWM, Rozen R, Laframboise R, Laberge C, Scriver CR. 1989. Novel PKU mutation on haplotype 2 in French Canadians. Am J Hum Genet 45:905-9

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Reviews

  1. Scriver CR, John SWM, Rozen R, Eisensmith R, Woo SLC. 1993. Associations between populations, PKU mutations and RFLP haplotypes at the PAH locus: an overview. Dev Brain Dysfunct 6:11-25

  2. John SWM, Anderson MG, Smith, RS. 1999. Mouse Genetics: A tool to help unlock the mechanisms of glaucoma. J Glaucoma 8: 400-412

  3. Gould DB, John SWM. 2002. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet 11: 1185-1193

  4. Gould DB, Smith RS, John SWM. 2004. Anterior Segment Development Relevant to Glaucoma. Int J Dev Biol 49: 1015-1029

  5. John SWM. 2005. Mechanistic insights to glaucoma provided by experimental genetics: The Cogan Lecture. Invest Ophthalmol Vis Sci 46: 2650-2661

  6. Whitmore AV, Libby RT, John SWM. 2005. Glaucoma: thinking in new ways Ã? a role for autonomous axonal self-destruction and other compartmentalized processes? Prog Retin Eye Res 24:639-662

  7. Libby RT, Gould DB, Anderson MG, John SWM. 2005. Complex Genetics of Glaucoma Susceptibility. Ann Rev Genom Hum Genet 6: 15-44

  8. John SWM, Magnuson T. 2007. The 2007 Thomas Hunt Morgan Medal: Oliver Smithies. Genetics 175: 459-462

  9. John SWM. 2007. The mouse is an important model system for determining molecular mechanisms of glaucoma. Association of International Glaucoma Societies, International Glaucoma Review. In Press

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Book chapters

  1. Smith RS, Nishina PM, Ikeda S, Jewett P, Zabaleta A, John SWM. 2000. Interpretation of Ocular Pathology in Genetically-Engineered and Spontaneous Mutant Mice. In Pathology of Genetically Engineered Mice. Ward J, Sundberg J, (Eds.) University of Iowa Press, Iowa City, Iowa, 217-231

  2. Smith RS, Sundberg JP, John SWM. 2002. The anterior segment and ocular adnexae. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods, Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, 3-24

  3. Smith RS, John SWM, Nishina PM. 2002. The posterior segment and orbit. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, 25-45

  4. Smith RS, Kao W, John SWM. 2002. Ocular development. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, 45-66

  5. Smith RS, Sundberg JP, John SWM. 2002. The anterior segment. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, 111-160

  6. Smith RS, John SWM, Sundberg JP. 2002. Optic nerve and orbit. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, 227-250

  7. Smith RS, Hawes NL, Miller J, Sundberg JP, John SWM. 2002. Necrospy and photography. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, 251-264

  8. Smith RS, Zabaleta A, John SWM. 2002. Light microscopy. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, 266-271

  9. John SWM, Savinova OV. 2002. Intraocular pressure measurement in mice: Technical aspects. In Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Boca Raton, Florida, 313-319

  10. Smith RS, Nishina PM, Sundberg JP, Zwaan J, John SWM. In Press. The mouse in biomedical research. In Eye Research. Fox J, Newcomer C, Smith A, Barthold S, Quimby F, Davisson M, (Eds.) Elsevier, San Diego, California

  11. Anderson MG, Streilen W, John SWM. In Press. Role of ocular antigen presenting cells in pigmentary forms of glaucoma. In Antigen-presenting Cells and the Eye. Zierhut M, Rammensee HG, Streilein W (Eds.), Taylor & Francis Group, New York/London.

  12. Howell GR, Marchant JK, John SWM. In Press. Mouse models: A key system in revolutionizing understanding of glaucoma. In Eye, Retina, and Visual System of the Mouse, Chalupa LM, Williams RW (Eds.) MIT Press, Massachusetts.

Books

  1. Smith RS, John SWM, Nishina PM, Sundberg JP. 2002. Systematic Evaluation of the Mouse Eye: Anatomy, Pathology and Biomethods. Smith RS, John SWM, Nishina PM, Sundberg JP, (Eds.) CRC Press, Florida.

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