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Patsy M. Nishina

TitleProfessor
InstitutionThe Jackson Laboratory
DepartmentMedicine
AddressThe Jackson Laboratory
600 Main Street
Bar Harbor ME 04609
Phone(207) 288-6383
Fax(207) 288-6077
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Krebs MP, Collin GB, Hicks WL, Yu M, Charette JR, Shi LY, Wang J, Naggert JK, Peachey NS, Nishina PM. Mouse models of human ocular disease for translational research. PLoS One. 2017; 12(8):e0183837. PMID: 28859131.
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    2. Charette JR, Earp SE, Bell BA, Ackert-Bicknell CL, Godfrey DA, Rao S, Anand-Apte B, Nishina PM, Peachey NS. A mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral density. Mol Vis. 2017; 23:140-148. PMID: 28356706.
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    3. Greenwald SH, Charette JR, Staniszewska M, Shi LY, Brown SD, Stone L, Liu Q, Hicks WL, Collin GB, Bowl MR, Krebs MP, Nishina PM, Pierce EA. Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. Am J Pathol. 2016 Jul; 186(7):1925-38. PMID: 27207593.
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    4. Ji X, Liu Y, Hurd R, Wang J, Fitzmaurice B, Nishina PM, Chang B. Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, ?. Invest Ophthalmol Vis Sci. 2016 Mar 1; 57(3):877-88. PMID: 26978024.
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    5. Krebs MP, Xiao M, Sheppard K, Hicks W, Nishina PM. Bright-Field Imaging and Optical Coherence Tomography of the Mouse Posterior Eye. Methods Mol Biol. 2016; 1438:395-415. PMID: 27150100.
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    6. Charette JR, Samuels IS, Yu M, Stone L, Hicks W, Shi LY, Krebs MP, Naggert JK, Nishina PM, Peachey NS. A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects. Adv Exp Med Biol. 2016; 854:177-83. PMID: 26427409.
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    7. Ji X, Chang B, Naggert JK, Nishina PM. Lysosomal Trafficking Regulator (LYST). Adv Exp Med Biol. 2016; 854:745-50. PMID: 26427484.
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    8. Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016 Feb; 48(2):144-51. PMID: 26691986.
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    9. Zhao L, Spassieva S, Gable K, Gupta SD, Shi LY, Wang J, Bielawski J, Hicks WL, Krebs MP, Naggert J, Hannun YA, Dunn TM, Nishina PM. Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration. Proc Natl Acad Sci U S A. 2015 Oct 20; 112(42):12962-7. PMID: 26438849.
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    10. Collin GB, Hubmacher D, Charette JR, Hicks WL, Stone L, Yu M, Naggert JK, Krebs MP, Peachey NS, Apte SS, Nishina PM. Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. Hum Mol Genet. 2015 Dec 15; 24(24):6958-74. PMID: 26405179.
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    11. Maddox DM, Collin GB, Ikeda A, Pratt CH, Ikeda S, Johnson BA, Hurd RE, Shopland LS, Naggert JK, Chang B, Krebs MP, Nishina PM. A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia. Invest Ophthalmol Vis Sci. 2015 Jun; 56(6):3776-87. PMID: 26066746.
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    12. Soundararajan R, Won J, Stearns TM, Charette JR, Hicks WL, Collin GB, Naggert JK, Krebs MP, Nishina PM. Gene Profiling of Postnatal Mfrprd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs. PLoS One. 2014; 9(10):e110299. PMID: 25357075; PMCID: PMC4214712.
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    13. Song D, Grieco S, Li Y, Hunter A, Chu S, Zhao L, Song Y, DeAngelis RA, Shi LY, Liu Q, Pierce EA, Nishina PM, Lambris JD, Dunaief JL. A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. Am J Pathol. 2014 Oct; 184(10):2721-9. PMID: 25088982; PMCID: PMC4188862 [Available on 10/01/15].
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    14. Low BE, Krebs MP, Joung JK, Tsai SQ, Nishina PM, Wiles MV. Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair. Invest Ophthalmol Vis Sci. 2014 Jan; 55(1):387-95. PMID: 24346171; PMCID: PMC3921157.
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    15. Won J, Charette JR, Philip VM, Stearns TM, Zhang W, Naggert JK, Krebs MP, Nishina PM. Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis. Exp Eye Res. 2014 Jan; 118:30-5. PMID: 24200520; NIHMSID: NIHMS602934 [Available on 01/01/15].
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    16. Samuels IS, Bell BA, Sturgill-Short G, Ebke LA, Rayborn M, Shi L, Nishina PM, Peachey NS. Myosin 6 is required for iris development and normal function of the outer retina. Invest Ophthalmol Vis Sci. 2013 Nov; 54(12):7223-33. PMID: 24106123; PMCID: PMC3816618.
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    17. Chang B, Hurd R, Wang J, Nishina P. Survey of common eye diseases in laboratory mouse strains. Invest Ophthalmol Vis Sci. 2013 Jul; 54(7):4974-81. PMID: 23800770; PMCID: PMC3723375.
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    18. Wert KJ, Davis RJ, Sancho-Pelluz J, Nishina PM, Tsang SH. Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa. Hum Mol Genet. 2013 Feb 1; 22(3):558-67. PMID: 23108158; PMCID: PMC3542865.
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    19. Peachey NS, Pearring JN, Bojang P, Hirschtritt ME, Sturgill-Short G, Ray TA, Furukawa T, Koike C, Goldberg AF, Shen Y, McCall MA, Nawy S, Nishina PM, Gregg RG. Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation. J Neurophysiol. 2012 Nov; 108(9):2442-51. PMID: 22896717; PMCID: PMC3545183.
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    20. Maddox DM, Ikeda S, Ikeda A, Zhang W, Krebs MP, Nishina PM, Naggert JK. An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice. Invest Ophthalmol Vis Sci. 2012 Mar; 53(3):1663-9. PMID: 22323461; PMCID: PMC3339923.
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    21. Collin GB, Won J, Hicks WL, Cook SA, Nishina PM, Naggert JK. Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis. Invest Ophthalmol Vis Sci. 2012 Feb; 53(2):967-74. PMID: 22247471; PMCID: PMC3317434.
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    22. Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10; 90(2):331-9. PMID: 22325362; PMCID: PMC3276656.
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    23. Won J, Shi LY, Hicks W, Wang J, Naggert JK, Nishina PM. Translational vision research models program. Adv Exp Med Biol. 2012; 723:391-7. PMID: 22183357.
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    24. Maddox DM, Hicks WL, Vollrath D, LaVail MM, Naggert JK, Nishina PM. An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration. Invest Ophthalmol Vis Sci. 2011 Jun; 52(7):4703-9. PMID: 21436282; PMCID: PMC3175976.
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    25. Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, Gloeckner CJ, Nishina PM, Roepman R, Ueffing M. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest. 2011 Jun; 121(6):2169-80. PMID: 21606596; PMCID: PMC3104757.
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    26. Won J, Marín de Evsikova C, Smith RS, Hicks WL, Edwards MM, Longo-Guess C, Li T, Naggert JK, Nishina PM. NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. Hum Mol Genet. 2011 Feb 1; 20(3):482-96. PMID: 21078623; PMCID: PMC3016909.
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    27. Won J, Shi LY, Hicks W, Wang J, Hurd R, Naggert JK, Chang B, Nishina PM. Mouse model resources for vision research. J Ophthalmol. 2011; 2011:391384. PMID: 21052544; PMCID: PMC2968714.
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    28. Lee Y, Smith RS, Jordan W, King BL, Won J, Valpuesta JM, Naggert JK, Nishina PM. Prefoldin 5 is required for normal sensory and neuronal development in a murine model. J Biol Chem. 2011 Jan 7; 286(1):726-36. PMID: 20956523; PMCID: PMC3013031.
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    29. Budzynski E, Gross AK, McAlear SD, Peachey NS, Shukla M, He F, Edwards M, Won J, Hicks WL, Wensel TG, Naggert JK, Nishina PM. Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice. J Biol Chem. 2010 May 7; 285(19):14521-33. PMID: 20207741; PMCID: PMC2863193.
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    30. Edwards MM, Marín de Evsikova C, Collin GB, Gifford E, Wu J, Hicks WL, Whiting C, Varvel NH, Maphis N, Lamb BT, Naggert JK, Nishina PM, Peachey NS. Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2. Invest Ophthalmol Vis Sci. 2010 Jun; 51(6):3264-72. PMID: 20071672; PMCID: PMC2891478.
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    31. Edwards MM, Mammadova-Bach E, Alpy F, Klein A, Hicks WL, Roux M, Simon-Assmann P, Smith RS, Orend G, Wu J, Peachey NS, Naggert JK, Lefebvre O, Nishina PM. Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation. J Biol Chem. 2010 Mar 5; 285(10):7697-711. PMID: 20048158; PMCID: PMC2844215.
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    32. Won J, Gifford E, Smith RS, Yi H, Ferreira PA, Hicks WL, Li T, Naggert JK, Nishina PM. RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis. Hum Mol Genet. 2009 Nov 15; 18(22):4329-39. PMID: 19679561; PMCID: PMC2766293.
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    33. Matsumura H, Kano K, Marín de Evsikova C, Young JA, Nishina PM, Naggert JK, Naito K. Transcriptome analysis reveals an unexpected role of a collagen tyrosine kinase receptor gene, Ddr2, as a regulator of ovarian function. Physiol Genomics. 2009 Oct 7; 39(2):120-9. PMID: 19671659; PMCID: PMC2765065.
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    34. Wang Y, Nishina PM, Naggert JK. Degradation of IRS1 leads to impaired glucose uptake in adipose tissue of the type 2 diabetes mouse model TALLYHO/Jng. J Endocrinol. 2009 Oct; 203(1):65-74. PMID: 19587264; NIHMSID: NIHMS189221.
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    35. Lee B, Bokryeon L, Kano K, Young J, John SW, Nishina PM, Naggert JK, Naito K. A novel ENU-induced mutation, peewee, causes dwarfism in the mouse. Mamm Genome. 2009 Jul; 20(7):404-13. PMID: 19513787; NIHMSID: NIHMS187067.
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    36. Wang Y, Zheng Y, Nishina PM, Naggert JK. A new mouse model of metabolic syndrome and associated complications. J Endocrinol. 2009 Jul; 202(1):17-28. PMID: 19398498; NIHMSID: NIHMS189216.
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    37. Haider NB, Mollema N, Gaule M, Yuan Y, Sachs AJ, Nystuen AM, Naggert JK, Nishina PM. Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction. Exp Eye Res. 2009 Sep; 89(3):365-72. PMID: 19379737; NIHMSID: NIHMS111980.
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    38. Sakamoto K, McCluskey M, Wensel TG, Naggert JK, Nishina PM. New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene. Hum Mol Genet. 2009 Jan 1; 18(1):178-92. PMID: 18849587; PMCID: PMC2644649.
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    39. Maddox DM, Vessey KA, Yarbrough GL, Invergo BM, Cantrell DR, Inayat S, Balannik V, Hicks WL, Hawes NL, Byers S, Smith RS, Hurd R, Howell D, Gregg RG, Chang B, Naggert JK, Troy JB, Pinto LH, Nishina PM, McCall MA. Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses. J Physiol. 2008 Sep 15; 586(Pt 18):4409-24. PMID: 18687716; PMCID: PMC2614010.
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    40. Won J, Smith RS, Peachey NS, Wu J, Hicks WL, Naggert JK, Nishina PM. Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments. Vis Neurosci. 2008 Jul-Aug; 25(4):563-74. PMID: 18764959; NIHMSID: NIHMS132811.
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    41. Kano K, Marín de Evsikova C, Young J, Wnek C, Maddatu TP, Nishina PM, Naggert JK. A novel dwarfism with gonadal dysfunction due to loss-of-function allele of the collagen receptor gene, Ddr2, in the mouse. Mol Endocrinol. 2008 Aug; 22(8):1866-80. PMID: 18483174; PMCID: PMC2505327.
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    42. Haider NB, Zhang W, Hurd R, Ikeda A, Nystuen AM, Naggert JK, Nishina PM. Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity. Mamm Genome. 2008 Mar; 19(3):145-54. PMID: 18286335.
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    43. Malm E, Ponjavic V, Nishina PM, Naggert JK, Hinman EG, Andréasson S, Marshall JD, Möller C. Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome. Arch Ophthalmol. 2008 Jan; 126(1):51-7. PMID: 18195218.
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    44. Marshall JD, Hinman EG, Collin GB, Beck S, Cerqueira R, Maffei P, Milan G, Zhang W, Wilson DI, Hearn T, Tavares P, Vettor R, Veronese C, Martin M, So WV, Nishina PM, Naggert JK. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat. 2007 Nov; 28(11):1114-23. PMID: 17594715.
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    45. Hirasawa M, Xu X, Trask RB, Maddatu TP, Johnson BA, Naggert JK, Nishina PM, Ikeda A. Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum. Mol Cell Neurosci. 2007 May; 35(1):161-70. PMID: 17376701; NIHMSID: NIHMS23189.
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    46. Budzynski E, Lee Y, Sakamoto K, Naggert JK, Nishina PM. From vivarium to bedside: lessons learned from animal models. Ophthalmic Genet. 2006 Dec; 27(4):123-37. PMID: 17148039.
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    47. Haider NB, Demarco P, Nystuen AM, Huang X, Smith RS, McCall MA, Naggert JK, Nishina PM. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Vis Neurosci. 2006 Nov-Dec; 23(6):917-29. PMID: 17266784.
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    48. Wang Y, Seburn K, Bechtel L, Lee BY, Szatkiewicz JP, Nishina PM, Naggert JK. Defective carbohydrate metabolism in mice homozygous for the tubby mutation. Physiol Genomics. 2006 Oct 11; 27(2):131-40. PMID: 16849632.
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    49. Lee Y, Kameya S, Cox GA, Hsu J, Hicks W, Maddatu TP, Smith RS, Naggert JK, Peachey NS, Nishina PM. Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci. 2005 Oct; 30(2):160-72. PMID: 16111892.
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    50. Collin GB, Cyr E, Bronson R, Marshall JD, Gifford EJ, Hicks W, Murray SA, Zheng QY, Smith RS, Nishina PM, Naggert JK. Alms1-disrupted mice recapitulate human Alström syndrome. Hum Mol Genet. 2005 Aug 15; 14(16):2323-33. PMID: 16000322; NIHMSID: NIHMS197310.
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    51. Kim JH, Stewart TP, Zhang W, Kim HY, Nishina PM, Naggert JK. Type 2 diabetes mouse model TallyHo carries an obesity gene on chromosome 6 that exaggerates dietary obesity. Physiol Genomics. 2005 Jul 14; 22(2):171-81. PMID: 15870394.
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    52. Cursiefen C, Ikeda S, Nishina PM, Smith RS, Ikeda A, Jackson D, Mo JS, Chen L, Dana MR, Pytowski B, Kruse FE, Streilein JW. Spontaneous corneal hem- and lymphangiogenesis in mice with destrin-mutation depend on VEGFR3 signaling. Am J Pathol. 2005 May; 166(5):1367-77. PMID: 15855638; PMCID: PMC1606392.
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    53. Marshall JD, Bronson RT, Collin GB, Nordstrom AD, Maffei P, Paisey RB, Carey C, Macdermott S, Russell-Eggitt I, Shea SE, Davis J, Beck S, Shatirishvili G, Mihai CM, Hoeltzenbein M, Pozzan GB, Hopkinson I, Sicolo N, Naggert JK, Nishina PM. New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med. 2005 Mar 28; 165(6):675-83. PMID: 15795345.
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    54. Mehalow AK, Kameya S, Smith RS, Hawes NL, Denegre JM, Young JA, Bechtold L, Haider NB, Tepass U, Heckenlively JR, Chang B, Naggert JK, Nishina PM. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet. 2003 Sep 1; 12(17):2179-89. PMID: 12915475.
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    55. Ikeda S, Cunningham LA, Boggess D, Hawes N, Hobson CD, Sundberg JP, Naggert JK, Smith RS, Nishina PM. Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor). Hum Mol Genet. 2003 May 1; 12(9):1029-37. PMID: 12700171.
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    56. Kim JH, Taylor PN, Young D, Karst SY, Nishina PM, Naggert JK. New leptin receptor mutations in mice: Lepr(db-rtnd), Lepr(db-dmpg) and Lepr(db-rlpy). J Nutr. 2003 May; 133(5):1265-71. PMID: 12730408.
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    57. Pacione LR, Szego MJ, Ikeda S, Nishina PM, McInnes RR. Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations. Annu Rev Neurosci. 2003; 26:657-700. PMID: 14527271.
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    58. Nishina PM, Naggert JK. Mouse genetic approaches to access pathways important in retinal function. Adv Exp Med Biol. 2003; 533:29-34. PMID: 15180244.
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    59. Ikeda S, Ikeda A, Naggert JK, Nishina PM. Towards understanding the function of the tubby gene family in the retina. Adv Exp Med Biol. 2003; 533:309-14. PMID: 15180278.
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    60. Kameya S, Hawes NL, Chang B, Heckenlively JR, Naggert JK, Nishina PM. Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6. Hum Mol Genet. 2002 Aug 1; 11(16):1879-86. PMID: 12140190.
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    61. Haider NB, Ikeda A, Naggert JK, Nishina PM. Genetic modifiers of vision and hearing. Hum Mol Genet. 2002 May 15; 11(10):1195-206. PMID: 12015279.
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    62. Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet. 2002 May; 31(1):74-8. PMID: 11941369.
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    63. Ikeda A, Naggert JK, Nishina PM. Genetic modification of retinal degeneration in tubby mice. Exp Eye Res. 2002 Apr; 74(4):455-61. PMID: 12076089.
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    64. Ikeda A, Zheng QY, Zuberi AR, Johnson KR, Naggert JK, Nishina PM. Microtubule-associated protein 1A is a modifier of tubby hearing (moth1). Nat Genet. 2002 Apr; 30(4):401-5. PMID: 11925566; NIHMSID: NIHMS197170.
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    65. Ikeda A, Nishina PM, Naggert JK. The tubby-like proteins, a family with roles in neuronal development and function. J Cell Sci. 2002 Jan 1; 115(Pt 1):9-14. PMID: 11801719.
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    66. Haider NB, Naggert JK, Nishina PM. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet. 2001 Aug 1; 10(16):1619-26. PMID: 11487564.
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    67. Kim JH, Sen S, Avery CS, Simpson E, Chandler P, Nishina PM, Churchill GA, Naggert JK. Genetic analysis of a new mouse model for non-insulin-dependent diabetes. Genomics. 2001 Jun 15; 74(3):273-86. PMID: 11414755.
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    68. Ikeda A, Ikeda S, Gridley T, Nishina PM, Naggert JK. Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice. Hum Mol Genet. 2001 Jun 1; 10(12):1325-34. PMID: 11406614.
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    69. Chen F, Collin GB, Liu KC, Beier DR, Eccles M, Nishina PM, Moshang T, Epstein JA. Characterization of the murine Lbx2 promoter, identification of the human homologue, and evaluation as a candidate for Alström syndrome. Genomics. 2001 Jun 1; 74(2):219-27. PMID: 11386758.
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    70. Wang I, Kao CW, Liu C, Saika S, Nishina PM, Sundberg JP, Smith RS, Kao WW. Characterization of Corn1 mice: Alteration of epithelial and stromal cell gene expression. Mol Vis. 2001 Feb 8; 7:20-6. PMID: 11182022.
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    71. He W, Ikeda S, Bronson RT, Yan G, Nishina PM, North MA, Naggert JK. GFP-tagged expression and immunohistochemical studies to determine the subcellular localization of the tubby gene family members. Brain Res Mol Brain Res. 2000 Sep 30; 81(1-2):109-17. PMID: 11000483.
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    72. Hawes NL, Chang B, Hageman GS, Nusinowitz S, Nishina PM, Schneider BS, Smith RS, Roderick TH, Davisson MT, Heckenlively JR. Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2000 Sep; 41(10):3149-57. PMID: 10967077.
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    73. Milam AH, Hendrickson AE, Xiao M, Smith JE, Possin DE, John SK, Nishina PM. Localization of tubby-like protein 1 in developing and adult human retinas. Invest Ophthalmol Vis Sci. 2000 Jul; 41(8):2352-6. PMID: 10892883.
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    74. Akhmedov NB, Piriev NI, Chang B, Rapoport AL, Hawes NL, Nishina PM, Nusinowitz S, Heckenlively JR, Roderick TH, Kozak CA, Danciger M, Davisson MT, Farber DB. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A. 2000 May 9; 97(10):5551-6. PMID: 10805811; PMCID: PMC25866.
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    75. Ikeda S, Shiva N, Ikeda A, Smith RS, Nusinowitz S, Yan G, Lin TR, Chu S, Heckenlively JR, North MA, Naggert JK, Nishina PM, Duyao MP. Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene. Hum Mol Genet. 2000 Jan 22; 9(2):155-63. PMID: 10607826.
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    76. Collin GB, Marshall JD, Boerkoel CF, Levin AV, Weksberg R, Greenberg J, Michaud JL, Naggert JK, Nishina PM. Alström syndrome: further evidence for linkage to human chromosome 2p13. Hum Genet. 1999 Nov; 105(5):474-9. PMID: 10598815.
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    77. Ikeda S, He W, Ikeda A, Naggert JK, North MA, Nishina PM. Cell-specific expression of tubby gene family members (tub, Tulp1,2, and 3) in the retina. Invest Ophthalmol Vis Sci. 1999 Oct; 40(11):2706-12. PMID: 10509669.
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    78. Ikeda A, Zheng QY, Rosenstiel P, Maddatu T, Zuberi AR, Roopenian DC, North MA, Naggert JK, Johnson KR, Nishina PM. Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (moth1) which protects tubby mice from hearing loss. Hum Mol Genet. 1999 Sep; 8(9):1761-7. PMID: 10441341; NIHMSID: NIHMS197290.
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    79. Ikeda S, Hawes NL, Chang B, Avery CS, Smith RS, Nishina PM. Severe ocular abnormalities in C57BL/6 but not in 129/Sv p53-deficient mice. Invest Ophthalmol Vis Sci. 1999 Jul; 40(8):1874-8. PMID: 10393064.
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    80. Mu JL, Naggert JK, Svenson KL, Collin GB, Kim JH, McFarland C, Nishina PM, Levine DM, Williams KJ, Paigen B. Quantitative trait loci analysis for the differences in susceptibility to atherosclerosis and diabetes between inbred mouse strains C57BL/6J and C57BLKS/J. J Lipid Res. 1999 Jul; 40(7):1328-35. PMID: 10393218.
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    81. Craig WY, Rawstron MW, Rundell CA, Robinson E, Poulin SE, Neveux LM, Nishina PM, Keilson LM. Relationship between lipoprotein- and oxidation-related variables and atheroma lipid composition in subjects undergoing coronary artery bypass graft surgery. Arterioscler Thromb Vasc Biol. 1999 Jun; 19(6):1512-7. PMID: 10364083.
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    82. McKusick VA, Naggert J, Nishina P, Valle D. 40 years of the annual 'Bar Harbor Course' (1960-1999): a pictorial history. Clin Genet. 1999 Jun; 55(6):398-415. PMID: 10450856.
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    83. Collin GB, Marshall JD, Naggert JK, Nishina PM. TGFA: exon-intron structure and evaluation as a candidate gene for Alström syndrome. Clin Genet. 1999 Jan; 55(1):61-2. PMID: 10066034.
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    84. Nishina PM, North MA, Ikeda A, Yan Y, Naggert JK. Molecular characterization of a novel tubby gene family member, TULP3, in mouse and humans. Genomics. 1998 Dec 1; 54(2):215-20. PMID: 9828123.
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    85. Collin GB, Nishina PM, Marshall JD, Naggert JK. Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome. Genomics. 1998 Nov 1; 53(3):359-64. PMID: 9799602.
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    86. Kim JH, Nishina PM, Naggert JK. Genetic models for non insulin dependent diabetes mellitus in rodents. J Basic Clin Physiol Pharmacol. 1998; 9(2-4):325-45. PMID: 10212842.
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    87. Marshall JD, Ludman MD, Shea SE, Salisbury SR, Willi SM, LaRoche RG, Nishina PM. Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families. Am J Med Genet. 1997 Dec 12; 73(2):150-61. PMID: 9409865.
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    88. Noben-Trauth K, Zheng QY, Johnson KR, Nishina PM. mdfw: a deafness susceptibility locus that interacts with deaf waddler (dfw). Genomics. 1997 Sep 15; 44(3):266-72. PMID: 9325047.
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    89. Noben-Trauth K, Naggert JK, Nishina PM. Cloning and expression analysis of mouse Cclp1, a new gene encoding a coiled-coil-like protein. Biochim Biophys Acta. 1997 May 30; 1352(2):133-7. PMID: 9199242.
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    90. Naggert JK, Recinos A, Lamerdin JE, Krauss RM, Nishina PM. The atherogenic lipoprotein phenotype is not caused by a mutation in the coding region of the low density lipoprotein receptor gene. Clin Genet. 1997 Apr; 51(4):236-40. PMID: 9184244.
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    91. North MA, Naggert JK, Yan Y, Noben-Trauth K, Nishina PM. Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proc Natl Acad Sci U S A. 1997 Apr 1; 94(7):3128-33. PMID: 9096357; PMCID: PMC20333.
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    92. Naggert JK, Svenson KL, Lin L, Cheah Y, Nishina PM, Mu J, Devereux TR, You M, Paigen B. An additional 136 SSLP markers typed for the AXB and BXA recombinant inbred mouse strains. Mamm Genome. 1997 Mar; 8(3):209-11. PMID: 9069122.
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    93. Collin GB, Marshall JD, Cardon LR, Nishina PM. Homozygosity mapping at Alström syndrome to chromosome 2p. Hum Mol Genet. 1997 Feb; 6(2):213-9. PMID: 9063741.
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    94. Collin GB, Münch A, Mu JL, Naggert JK, Olsen AS, Nishina PM. Physical and genetic mapping of novel microsatellite polymorphisms on human chromosome 19. Genomics. 1996 Oct 1; 37(1):125-30. PMID: 8921379.
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    95. Noben-Trauth K, Naggert JK, Nishina PM. The ets-related mouse Pea3 gene maps to distal chromosome 11. Mamm Genome. 1996 Jul; 7(7):551. PMID: 8672139.
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    96. Noben-Trauth K, Naggert JK, North MA, Nishina PM. A candidate gene for the mouse mutation tubby. Nature. 1996 Apr 11; 380(6574):534-8. PMID: 8606774.
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    97. Khanuja B, Cheah YC, Hunt M, Nishina PM, Wang DQ, Chen HW, Billheimer JT, Carey MC, Paigen B. Lith1, a major gene affecting cholesterol gallstone formation among inbred strains of mice. Proc Natl Acad Sci U S A. 1995 Aug 15; 92(17):7729-33. PMID: 7644485; PMCID: PMC41219.
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    98. Naggert JK, Fricker LD, Varlamov O, Nishina PM, Rouille Y, Steiner DF, Carroll RJ, Paigen BJ, Leiter EH. Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. Nat Genet. 1995 Jun; 10(2):135-42. PMID: 7663508.
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    99. Nishina PM, Naggert JK, Verstuyft J, Paigen B. Atherosclerosis in genetically obese mice: the mutants obese, diabetes, fat, tubby, and lethal yellow. Metabolism. 1994 May; 43(5):554-8. PMID: 8177043.
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    100. Nishina PM, Lowe S, Wang J, Paigen B. Characterization of plasma lipids in genetically obese mice: the mutants obese, diabetes, fat, tubby, and lethal yellow. Metabolism. 1994 May; 43(5):549-53. PMID: 8177042.
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    101. Nishina PM, Lowe S, Verstuyft J, Naggert JK, Kuypers FA, Paigen B. Effects of dietary fats from animal and plant sources on diet-induced fatty streak lesions in C57BL/6J mice. J Lipid Res. 1993 Aug; 34(8):1413-22. PMID: 8409772.
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    102. Nishina PM, Wang J, Toyofuku W, Kuypers FA, Ishida BY, Paigen B. Atherosclerosis and plasma and liver lipids in nine inbred strains of mice. Lipids. 1993 Jul; 28(7):599-605. PMID: 8355588.
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    103. Mu JL, Naggert JK, Nishina PM, Cheah YC, Paigen B. Strain distribution pattern in AXB and BXA recombinant inbred strains for loci on murine chromosomes 10, 13, 17, and 18. Mamm Genome. 1993; 4(3):148-52. PMID: 8094988.
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    104. Nishina PM, Johnson JP, Naggert JK, Krauss RM. Linkage of atherogenic lipoprotein phenotype to the low density lipoprotein receptor locus on the short arm of chromosome 19. Proc Natl Acad Sci U S A. 1992 Jan 15; 89(2):708-12. PMID: 1731344; PMCID: PMC48308.
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    105. Nishina PM, Schneeman BO, Freedland RA. Effects of dietary fibers on nonfasting plasma lipoprotein and apolipoprotein levels in rats. J Nutr. 1991 Apr; 121(4):431-7. PMID: 1848886.
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    106. Carmona A, Nishina PM, Avery EH, Freedland RA. Time course changes in glycogen accretion, 6-phosphogluconate, fructose-2,6-bisphosphate, and lipogenesis upon refeeding a high sucrose diet to starved rats. Int J Biochem. 1991; 23(4):455-60. PMID: 2015953.
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    107. Johnson JP, Nishina PM, Naggert JK. PCR assay for a polymorphic PvuII site in the LPL gene. Nucleic Acids Res. 1990 Dec 25; 18(24):7469. PMID: 1979679; PMCID: PMC332908.
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    108. Nishina PM, Freedland RA. Effects of propionate on lipid biosynthesis in isolated rat hepatocytes. J Nutr. 1990 Jul; 120(7):668-73. PMID: 2366102.
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    109. Nishina PM, Freedland RA. The effects of dietary fiber feeding on cholesterol metabolism in rats. J Nutr. 1990 Jul; 120(7):800-5. PMID: 2164080.
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    110. Nishina PM, Verstuyft J, Paigen B. Synthetic low and high fat diets for the study of atherosclerosis in the mouse. J Lipid Res. 1990 May; 31(5):859-69. PMID: 2380634.
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