Simon John Publications

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.

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

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

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.

Lehmann OJ, Tuft S, Brice G, Smith R, Blixt A, Bell R, Johansson B, Jordan T, Hitchings RA, Khaw PT, John SW, 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.

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.

Wang D, Oparil S, Feng JA, 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.

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.

Gould DB, Smith RS, John SW.  2004.  Anterior segment development relevant to glaucoma.  Int J Dev Biol 48:1015-1029.

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.

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. 

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. doi: 10.1135/jmg.2005.035584

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.

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.

Jakobs TC, Libby RT, Ben Y, John SW, 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, Li Y, 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.

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

Anderson MG, Libby RT, Mao M, Cosma IM, Wilson LA, Smith RS, John SW.  2006.  Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma.  BMC Biol 4:20.

Breedveld G, de Coo IF, Lequin MH, Arts WF, Heutink P, Gould DB, John SW, Oostra B, Mancini GM.  2006.  Novel mutations in three families confirm a major role of Col4a1 in hereditary porencephaly.  J Med Genet 43:490-495.

Gould DB, Phalan FC, van Mil SE, Sundberg JP, Vahedi K, Massin P, Bousser MG, Heutink P, Miner JH, Tournier-Lasserve E, John SWM.  2006.  Role of Col4a1 in small-vessel disease and hemorrhagic stroke.  N Engl J Med 354:1489-1496.

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

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 16: 7798-807

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

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 http://www.biomedcentral.com/1471-2156/8/45

Brooks BP, Larson DM, Chan C-C, Kjellstrom S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik FJ, Maminishkis A, John SWM, Bush R, Pavan WJ. 2007. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci 48:9

Stevens B, Allen NJ, Vazquez LE, Howell GR, Christopherson KS, Nouri N, Micheva KD, Mehalow A, Huberman AD, Stafford B, Sher A, Litke AM, Lambris JD, Smith SJ, John SWM, Barres BA. 2007. The Classical Complement Cascade Mediates CNS Synapse Elimination. Cell 131: 1164-1178

Libby RT, Howell GR, Pang I-H, Savinova OV, Barter J, Smith RS, Clark AF, John SWM. 2007. Inducible nitric oxide synthase, Nos2, does not mediate optic neuropathy and retinopathy in the DBA/2J glaucoma model. BMC Neurosci 8:108 doi:10.1186/1471-2202-8-108

Howell GR, Libby RT, Jakobs TC, Smith RS, Phalan FC, Barter JW, Barbay JM, Marchant JK, Mahesh N, Porciatti V, Whitmore AV, Masland RH, John SWM. 2007. Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J Cell Biol 179:1523-1537.

Anderson MG, Nair KS, Amonoo LA, Mehalow A, Trantow C, Masli S, John SWM. 2008. GpnmbR150X allele must be present in bone marrow derived cells to mediate DBA/2J glaucoma. BMC Genet Apr 10; 9:30

Anderson MG, Hawes NL, Trantow CM, Chang B, John SWM. 2008. Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.

Pigment Cell & Melanoma Research PMID

Books

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, Boca Raton, Florida.

Book chapters and reviews

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.

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

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

Sundberg JP, Smith RS, John SWM. 2002. Selection of controls. 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, 77-80.

Gould DB, Smith RS, John SWM.  2004.  Anterior segment development relevant to glaucoma.  Int J Dev Biol 49:1015-1029.

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

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

Libby RT, Gould DB, Anderson MG, John SWM.  2006.  Complex genetics of glaucoma susceptibility.  Annu Rev Genomics Hum Genet 6:15-44.

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, CA.