Research Publications

(for a complete listing enter “Nathans J” in PubMed)

Wang, A., Nathans, J., Van Der Marel, G., Van Boom, J.H., and Rich, A. (1978) Molecular structure of a double helical DNA fragment intercalator complex between deoxy CpG and a terpyridine platinum compound.  Nature 276: 471–474. [link]

Kronenberg, H.M., McDevitt, B.E., Majzoub, J.A., Nathans, J., Sharp, P., Potts, J.T., and Rich, A. (1979) Cloning and nucleotide sequence of DNA coding for bovine preproparathyroid hormone.   Proceedings of the National Academy of Sciences USA 76: 4981–4986. [link]

Nathans, J. and Hogness, D.S. (1983) Isolation, sequence analysis, and intron–exon arrangement of the gene encoding bovine rhodopsin.  Cell 34: 807–814. [link]

Nathans, J. and Hogness, D.S. (1984) Isolation and nucleotide sequence of the gene encoding human rhodopsin.  Proceedings of the National Academy of Sciences USA 81: 4851-4855. [link]

Nathans, J., Thomas, D., and Hogness, D.S. (1986) Molecular genetics of human color vision:  the genes encoding blue, green, and red pigments.  Science 232: 193–202. [link]

Nathans, J., Piantanida, T.P., Eddy, R.L., Shows, T.B., and Hogness, D.S. (1986) Molecular genetics of inherited variation in human color vision.  Science 232: 203–210. [link]

Vollrath, D., Nathans, J., and Davis, R.W. (1988) Tandem array of human visual pigment genes at Xq28. Science 240: 1669–1671. [link]

Nathans, J., Weitz, C.J., Agarwal, N., Nir, I., and Papermaster, D.S. (1989) Production of bovine rhodopsin by mammalian cell lines expressing cloned cDNA:  spectrophotometry and subcellular localization.  Vision Research 29: 907–914. [link]

Nathans, J., Davenport, C.M., Maumenee, I.H., Lewis, R.A., Hejtmancik, J.F., Litt, M., Lovrien, E., Weleber, R., Bachynski, B., Zwas, F., Klingaman, R., and Fishman, G. (1989) Molecular genetics of human blue cone monochromacy.  Science 245: 831–838. [link]

Nathans, J. (1990) Determinants of visual pigment absorbance:  the role of charged amino acids in the putative transmembrane segments.  Biochemistry 29: 937–942. [link]

Nathans, J. (1990) Determinants of visual pigment absorbance:  identification of the retinylidene Schiff’s base counterion in bovine rhodopsin.  Biochemistry 29: 9746–9752. [link]

Zack, D.J., Bennett, J., Wang, Y., Davenport, C., Klaunberg, B., Gearhart, J., and Nathans, J. (1991) Unusual topography of bovine rhodopsin promoter–lacZ fusion gene expression in transgenic mouse retinas.  Neuron 6: 187–199. [link]

Sung, C.–H., Davenport, C.M., Hennessey, J.C., Maumenee, I.H., Jacobson, S.G., Heckenlively, J.R., Nowakowski, R., Fishman, G., Gouras, P., and Nathans, J. (1991) Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proceedings of the National Academy of Sciences USA 88: 6481–6485. [link]

Sung, C.–H., Schneider, B.G., Agarwal, N. Papermaster, D.S., and Nathans, J. (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.  Proceedings of the National Academy of Sciences USA 88: 8840–8844. [link]

Jacobson, S.G., Kemp, C.M., Sung, C.–H., and Nathans, J. (1991) Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.  American Journal of Ophthalmology 112: 256–271. [link]

Weitz, C.J., Miyake, Y., Shinzato, K., Montag, E., Zrenner, E., Went, L.N., and Nathans, J. (1992) Human tritanopia associated with two amino acid substitutions in the blue–sensitive opsin.  American Journal of Human Genetics 50: 498-507. [link]

Kemp, C.M., Jacobson, S.G., Roman, A.J., Sung, C.–H., and Nathans, J. (1992) Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline–23–histidine rhodopsin mutation.   American Journal of Ophthalmology 113: 165-174. [link]

Merbs, S.L., and Nathans, J. (1992) Absorption spectra of human cone pigments.  Nature 356: 433-435. [link]

Weitz, C.J., and Nathans, J. (1992) Histidine residues regulate the transition of photoexcited rhodopsin to its active conformation, metarhodopsin II.  Neuron 8: 465-472. [link]

Wang, S.-Z., Adler, R., and Nathans, J. (1992) A visual pigment from chicken that resembles rhodopsin: amino acid sequence, gene structure, and functional expression.  Biochemistry 31: 3309-3315. [link]

Dhallan, R.S., Macke, J., Eddy, R.L., Shows, T.B., Reed, R.R., Yau, K.-W., and Nathans, J. (1992) Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression.  Journal of Neuroscience 12: 3248-3256. [link]

Weitz, C.J., Went, L.N., and Nathans, J. (1992) Human tritanopia associated with a third amino acid substitution in the blue sensitive visual pigment gene.  American Journal of Human Genetics 51: 444-446. [link]

Merbs, S.L., and Nathans, J. (1992) Photobleaching difference absorption spectra of human cone pigments: quantitative analysis and comparison to other methods.  Photochemistry and Photobiology 56: 869-881. [link]

Wang, Y., Macke, J. P., Merbs, S. L., Klaunberg, B., Bennett, J., Zack, D., Gearhart, J., and Nathans, J. (1992) A locus control region adjacent to the human red and green pigment genes.  Neuron 9: 429-440. [link]

Merbs, S.L., and Nathans, J. (1992) Absorption spectra of the hybrid pigments responsible for anomalous color vision.  Science 258: 464-466. [link]

Borjigin, J., and Nathans, J. (1993) Bovine pancreatic trypsin inhibitor (BPTI) – trypsin complex as a detection system for recombinant proteins.  Proceedings of the National Academy of Sciences USA 90: 337-341. [link]

Johnson, R.L., Grant, K.B., Zankel, T.C., Boehm, M.F., Merbs, S.L., Nathans, J., and Nakanishi, K. (1993) Cloning and expression of goldfish opsin sequences.  Biochemistry 32: 208-214. [link]

Macke, J.P., Davenport, C.M., Jacobson, S.G., Hennessey, J.C., Gonzalez-Fernandez, F., Conway, B.P., Heckenlively, J., Palmer, R., Maumenee, I.H., Sieving, P., Gouras, P., Good, W., and Nathans, J. (1993) Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.  American Journal of Human Genetics 53: 80-89. [link]

Macke, J. P., Hu, N., Hu, S., Bailey, M., King, V.L., Brown, T., Hamer, D., and Nathans, J. (1993) Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation.  American Journal of Human Genetics 53: 844-852. [link]

Merbs, S. L., and Nathans, J. (1993) Role of hydroxyl-bearing amino acids in differentially tuning the absorption spectra of the human red and green cone pigments.  Photochemistry and Photobiology 58: 706-710. [link]

Nathans, J., Maumenee, I.H., Zrenner, E., Sadowski, B., Sharpe, L.T., Lewis, R.A., Hansen, E., Rosenberg, T., Schwartz, M., Heckenlively, J.R., Traboulsi, E., Klingaman, R., Bech-Hansen, N.T., LaRoche, G.R., Pagon, R.A., Murphey, W.H., and Weleber, R.G. (1993) Genetic heterogeneity among blue cone monochromats.  American Journal of Human Genetics 53: 987-1000. [link]

Xiang, M., Zhou, L., Peng, Y.-W., Eddy, R.L., Shows, T.B., and Nathans, J. (1993) Brn-3b: a POU-domain protein expressed in a subset of retinal ganglion cells.  Neuron 11: 689-701. [link]

Sung, C.-H., Davenport, C. M., and Nathans, J. (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa: clustering of functional classes along the polypeptide chain.  Journal of Biological Chemistry 268: 26645-26649. [link]

Weitz, C., and Nathans, J. (1993) Rhodopsin activation: the effects on the metarhodopsin I – metarhodopsin II equilibrium of neutralization or introduction of charged amino acids within putative transmembrane segments.  Biochemistry 32: 14176-14182. [link]

Portera-Cailliau, C., Sung, C.-H., Nathans, J., and Adler, R. (1994) Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa.  Proceedings of the National Academy of Sciences USA 91: 974-978. [link]

Jacobson, S.G., Kemp, C.M., Cideciyan, A.V., Macke, J.P., Sung, C.-H., and Nathans, J. (1994) Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.  Investigative Ophthalmology and Visual Science 35: 2521-2534. [link]

Chiu, M.I., and Nathans, J. (1994) Blue cones and cone bipolar cells share transcriptional specificity as determined by expression of human blue visual pigment-derived transgenes.  Journal of Neuroscience 14: 3426-3436. [link]

Chiu, M.I., and Nathans, J. (1994) A sequence upstream of the mouse blue visual pigment gene directs blue cone-specific transgene expression in mouse retinas.  Visual Neuroscience 11: 773-780. [link]

Rosas, D.J., Roman, A.J., Weissbrod, P., Macke, J.P., and Nathans, J. (1994) Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study. Investigative Ophthalmology and Visual Science 35: 3134-3144. [link]

Borjigin, J., and Nathans, J. (1994) Insertional mutagenesis as a probe of rhodopsin’s topography, stability, and activity.  Journal of Biological Chemistry 269: 14715-14722. [link]

Chiu, M.I., Zack, D.J., Wang, Y. and Nathans, J. (1994) Murine and bovine blue pigment genes: cloning and characterization of two new members of the S family of visual pigments.  Genomics 21: 440-443. [link]

Sung, C.-H., Makino, C., Baylor, D., and Nathans, J. (1994) A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment.  Journal of Neuroscience 14: 5818-5833. [link]

Macke, J.P., Hennessey, J.C., and Nathans, J. (1995) Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.  Human Molecular Genetics 4: 775-776. [link]

Xiang, M., Zhou, L., Macke, J.P., Yoshioka, T., Hendry, S.H.C., Eddy, R.L., Shows, T.B., and Nathans, J. (1995) The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons.  Journal of Neuroscience 15: 4762-4785. [link]

Wang, Y., Macke, J.P., Abella, B.S., Andreasson, K., Worley, P., Gilbert, D.J., Copeland, N.G., Jenkins, N.A., and Nathans, J. (1996) A large family of putative transmembrane receptors homologous to the product of the Drosophila tissue polarity gene frizzled.  Journal of Biological Chemistry 271: 4468-4476. [link]

Zhou, H., Yoshioka, T., and Nathans, J. (1996) RPF-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells.  Journal of Neuroscience 16: 2261-2274. [link]

Gan, L., Xiang, M., Zhou, L.,Wagner, D.S., Klein, W.H., and Nathans, J. (1996) The POU domain factor Brn-3b is required for the development of a large set of retinal ganglion cells.  Proceedings of the National Academy of Sciences USA 93: 3920-3925. [link]

Xiang, M., Zhou, L., and Nathans, J. (1996) Similarities and differences among inner retinal neurons revealed by the expression of reporter transgenes under the control of Brn-3a, Brn-3b, and Brn-3c promotor sequences.  Visual Neuroscience 13: 955-962. [link]

Bhanot, P., Brink, M., Harryman Samos, C., Hsieh, J.-C., Wang, Y., Macke, J.P., Andrew, D., Nathans, J., and Nusse, R. (1996) A new member of the frizzled family from Drosophila functions as a Wingless receptor.  Nature 382: 225-230. [link]

Smallwood, P.M., Munoz-Sanjuan, I., Tong, P., Macke, J.P., Hendry, S.H.C., Gilbert, D.J., Copeland, N.G., Jenkins, N.A., and Nathans, J. (1996) Fibroblast growth factor homologous factors (FHFs): new members of the FGF family implicated in nervous system development.  Proceedings of the National Academy of Sciences USA 93: 9850-9857. [link]

Xiang, M., Gan, L., Zhou, L., Klein, W.H., and Nathans, J. (1996) Targeted deletion of the mouse POU domain gene Brn-3a  causes a selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired suckling.  Proceedings of the National Academy of Sciences USA 93: 11950-11955. [link]

Margolis, R.L., Stine, O.C., McInnes, M.G., Ranen, N.G., Rubinsztein, D.C., Leggo, J., Brando, L.V.J., Kidwai, A.S., Loev, S.J., Breschel, T.S., Callahan, C, Simpson, S.G., DePaulo, J.R., McMahon, F.J., Jain, S., Paykel, E.S., Walsh, C., DeLisi, L.E., Crow, T.J., Torrey, E.F., Ashworth, R.G., Macke, J.P., Nathans, J., and Ross, C.A. (1996) cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat.  Human Molecular Genetics 5: 607-616. [link]

Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A, Chidambaram, A., Gerrard, B., Baird, l., Stauffer, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K.L., Lewis, R.A., Nathans, J., Leppert, M., Dean, M. and Lupski, J.R. (1997) A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Strargardt’s macular dystrophy.  Nature Genetics 15: 236-246. [link]

He, X., Saint-Jeannet, J.-P., Wang, Y., Nathans, J., Dawid, I., and Varmus, R. (1997) A member of the Frizzled protein family mediating axis induction by Wnt-5A.  Science 275: 1652-1654. [link]

Rattner, A.,Hsieh, J.-C., Smallwood, P.M., Debra J. Gilbert, D.J., Copeland, N.G., Jenkins, N.A., and Nathans, J. (1997) A family of secreted proteins containing homology to the cysteine-rich ligand-binding domain of frizzled receptors.  Proceedings of the National Academy of Sciences USA 94: 2859-2863. [link]

Macke, J.P. and Nathans, J. (1997) Individual variation in the size of the human red and green pigment gene array.  Investigative Ophthalmology and Visual Science 38: 1040-1043. [link]

Sun, H., Macke, J.P., and Nathans, J. (1997) Mechanisms of spectral tuning in the mouse green cone pigment.  Proceedings of the National Academy of Sciences USA 94: 8860-8865. [link]

Xiang, M., Gan, L., Li, D., Chen, Z.-Y., Zhou, L., O’Malley, B.W., Klein, W., and Nathans, J. (1997)  Essential role of POU-domain factor Brn-3c in auditory and vestibular hair cell development.  Proceedings of the National Academy of Sciences USA 94: 9445-9450. [link]

Sun, H., and Nathans, J. (1997) Stargardt’s ABCR is localized to the disc membrane of retinal rod outer segments.  Nature Genetics 17: 15-16. [link]

Sun, H., Gilbert, D.J., Copeland, N.G., Jenkins, N.A., and Nathans, J. (1997) Peropsin, a novel visual pigment-like protein located in the apical microvilli of the retinal pigment epithelium.  Proceedings of the National Academy of Sciences USA 94: 9893-9898. [link]

Sherman, P.M., Sun, H., Macke, J.P., Williams, J., Smallwood, P.M., and Nathans, J. (1997) Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C (rdgC).  Proceedings of the National Academy of Sciences USA 94: 11639-11644. [link]

Allikmets, R., Wasserman, W.W., Hutchinson, A., Smallwood, P., Nathans, J., Rogan, P., Schneider, T.D., and Dean, M. (1998) Organization of the ABCR gene: analysis of promotor and splice junction sequences.  Gene 215: 111-122. [link]

Soucy, E. Wang, Y., Nirenberg, S., Nathans, J., and Meister, M. (1998) A novel signaling pathway from rod photoreceptors to ganglion cells in mammalian retina.  Neuron 21: 481-493. [link]

Sharpe, L.T., Stockman, A., Jagle, H., Knau, H., Klausen, G., Reitner, A., and Nathans, J. (1998) Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically-measured spectral sensitivities.  Journal of Neuroscience 18: 10053-10069. [link]

Munoz-Sanjuan, I., Simandl, B.K., Fallon, J.F., and Nathans, J. (1999) Expression of chicken fibroblast growth factor homologous factor-1 (FHF-1) and of differentially spliced isoforms of FHF-2 during development and involvement of FHF-2 in chicken limb development.  Development 126: 409-421. [link]

Sun, H., Molday, R. S., and Nathans, J. (1999) Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ABC transporter responsible for Stargardt disease.  Journal of Biological Chemistry 274: 8269-8281. [link]

Stockman, A., Sharpe, L.T., Jagle, H., Knau, H., and Nathans, J. (1999) L, M, and L-M hybrid cone photopigments in man: deriving lambda max’s from flicker photometric spectral sensitivities.  Vision Research 39: 3513-3525. [link]

Hsieh, J.-C., Rattner, A., Smallwood, P.M., and Nathans, J. (1999) Biochemical characterization of Wnt-Frizzled interactions using a soluble, biologically active vertebrate Wnt protein.  Proceedings of the National Academy of Sciences USA 96: 3546-3551. [link]

Hsieh, J.-C., Kodjabachian, L., Rebbert, M., Rattner, A., Smallwood, P.M., Harryman Samos, C., Nusse, R., Dawid, I., and Nathans, J. (1999) A new secreted protein that binds to Wnt proteins and inhibits their activities.  Nature 398: 431-436. [link]

Wang, Y., Smallwood, P. M., Cowan, M., Blesh, D., Lawler, A., and Nathans, J. (1999) Mutually exclusive expression of human red and green visual pigment-reporter transgenes occurs at high frequency in murine cone photoreceptors. Proceedings of the National Academy of Sciences USA 96: 5251-5256. [link]

Bhanot, P., Fish, M., Jemison, J., Nusse, R., Nathans, J., and Cadigan, K.M. (1999) Frizzled and frizzled-2 function as redundant receptors for Wingless during Drosophila embryonic development.  Development 126: 4175-4186. [link]

Munoz-Sanjuan, I., Smallwood, P.M., and Nathans, J. (2000) Isoform diversity among fibroblast growth factor homologous factors is generated by alternative promotor usage and differential splicing.  Journal of Biological Chemistry 275: 2589-2597. [link]

Rattner, A., Smallwood, P.M., and Nathans, J. (2000) Identification and characterization of all-trans retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans retinal to all-trans retinol.  Journal of Biological Chemistry 275: 11034-11043. [link]

Munoz-Sanjuan, I., Fallon, J.F., and Nathans, J. (2000) Expression and regulation of chicken fibroblast growth factor homologous factor (FHF)-4 at the base of the developing limb.  Mechanisms of Development 95: 101-112. [link]

Sun, H., Smallwood, P.M., and Nathans, J. (2000) Biochemical defects in ABCR protein variants associated with human retinopathies.  Nature Genetics 26: 242-246. [link]

Muñoz-Sanjuán, I., Cooper, M.K., Beachy, P.A., Fallon, J.F., and Nathans, J. (2001) Expression and regulation of chicken fibroblast growth factor homologous factor (FHF)-4 at the base of the developing limb.  Mechanisms of Development 95: 101-112. [link]

Sun, H. and Nathans, J. (2001)  ABCR, the ATP-binding cassette transporter responsible for Stargardt macular dystrophy, is an efficient target of all-trans retinal-mediated photo-oxidative damage in vitro: implications for retinal disease.  Journal of Biological Chemistry 276: 11766-11774. [link]

Wang, Y., Huso, D., Cahill, H., Ryugo, D., and Nathans, J. (2001)  Progressive cerebellar, auditory, and esophageal dysfunction caused by targeted disruption of the frizzled 4 gene, Journal of Neuroscience 21: 4761-4771. [link]

Ramulu, P., and Nathans, J. (2001) Cellular and subcellular localization, N-terminal acylation, and calcium binding of Caenhorabditis elegans protein phosphatase with EF-hands.  Journal of Biological Chemistry 276: 25127-25135. [link]

Dann, C.E., Hsieh, J.-C., Rattner, A., Sharma, D., Nathans, J., and Leahy, D.J. (2001)  Insights into Wnt binding and signaling from the structures of two Frizzled cysteine-rich domains. Nature 412: 86-90. [link]

Ramulu, P., Kennedy, M., Xiong, W., Williams, J., Cowan, M., Blesh, D., Yau K.-W., Hurley, J.B. and Nathans, J.  (2001)  Normal light response, photoreceptor integrity, and rhodopsin dephosphorylation in mice lacking both protein phosphatases with EF-hands (PPEF-1 and PPEF-2). Molecular and Cellular Biology 21: 8605-8614. [link]

Simovich, M.J., Miller, B., Ezzeldin, H., Kirkland, B.T., McLeod, G., Fulmer, C., Nathans, J., Jacobson, S.G., and Pittler S.J. (2001) Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.  Human Mutation 18: 164. [link]

Rattner, A., Smallwood, P.M., Williams, J., Cooke, C., Savchenko, A., Lyubarsky, A., Pugh, E.N., and Nathans, J. (2001)  A photoreceptor-specific cadherin is essential for the structural integrity of the outer segment and for photoreceptor survival. Neuron 32: 775-786. [link]

Smallwood, P.M., Wang, Y., and Nathans, J. (2002) Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes. Proceedings of the National Academy of Sciences USA 99: 1008-1011. [link]

Sun, H., Tsunenari, T., Yau, K.-W., and Nathans, J. (2002) The vitelliform macular dystrophy protein defines a new family of chloride channels. Proceedings of the National Academy of Sciences USA 99: 4008-4013. [link]

Wang, Y., Thekdi, N., Smallwood, P.M., Macke, J.P., and Nathans, J. (2002) Frizzled-3 is required for the development of major fiber tracts in the rostral CNS.  Journal of Neuroscience 22: 8563-8573. [link]

Badea, T., Wang, Y, and Nathans, J. (2003) A noninvasive genetic/pharmacologic strategy for visualizing cell morphology and clonal relationships in the mouse. Journal of Neuroscience 23: 2314-2322. [link]

Tsunenari, T., Sun, H, Williams, J., Cahill, H., Smallwood, P., Yau K.-W., and Nathans, J. (2003) Structure-function analysis of the bestrophin family of anion channels. Journal of Biological Chemistry 278: 41114-41125. [link]

Smallwood, P.M., Ölveczky, B.P., Williams, G.L., Jacobs, G.H., Reese, B.E., Meister, M., and Nathans, J. (2003) Genetically engineered mice with a novel class of cone photoreceptors: implications for the evolution of color vision. Proceedings of the National Academy of Sciences USA 100: 11706-11711. [link]

Parikh, V., Shugart, Y.Y., Doheny, K.F., Zhang, J., Li, L., Williams, J., Hayden, D., Craig, B., Capo, H., Chamblee, D., Chen, C., Collins, M., Dankner, S., Fiergang, D., Guyton, D., Hunter, D., Hutcheon, M., Keys, M., Morrison, N., Munoz, M., Parks, M., Plotsky, D., Protzko, E., Repka, M.X., Sarubbi, M., Schnall, B., Siatkowski, R.M., Traboulsi, E., Waeltermann, J., and Nathans, J. (2003) A strabismus susceptibility locus on chromosome 7p. Proceedings of the National Academy of Sciences USA 100:12283-12288. [link]

Lyuksyutova, A.I., Lu C.C., Milanesio, N., King, L.A., Guo, N., Wang, Y., Nathans, J., Tessier-Lavigne, M., and Zou, Y. (2003) Anterior-posterior guidance of commissural axons by Wnt-frizzled signaling. Science 302: 1984-1988. [link]

Xu, Q., Wang, Y., Dabdoub, A., Smallwood, P.M., Williams, J., Woods, C., Kelley, M.W., Jiang, L., Tasman, W., Zhang, K., and Nathans, J. (2004) Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell 116: 883-895. [link]

Luo, W., Marsh-Armstrong, N., Rattner, A., and Nathans J. (2004) An outer segment localization signal at the carboxy-terminus of the photoreceptor-specific retinol dehydrogenase.  Journal of Neuroscience 24: 2623-2632. [link]

Luo, W., Williams, J., Smallwood, P.M., Touchman, J.W., Roman, L.M., and Nathans, J. (2004) Proximal and distal sequences control UV cone pigment gene expression in transgenic zebrafish.  Journal of Biological Chemistry 279: 19286-19293. [link]

Guo, N., Hawkins, C., and Nathans, J. (2004) Frizzled6 controls hair patterning in mice. Proceedings of the National Academy of Sciences USA 101: 9277-9281. [link]

Badea, T., and Nathans, J. (2004) Quantitative analysis of neuronal morphologies in the mouse retina visualized using a genetically directed reporter. Journal of Comparative Neurology 480: 331-351. [link]

Rattner, A., Chen, J., and Nathans, J. (2004) Proteolytic shedding of the extracellular domain of photoreceptor cadherin: implications for outer segment assembly. Journal of Biological Chemistry 279: 42202-42210. [link]

Chen, J., Rattner, A., and Nathans, J. (2005) The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. Journal of Neuroscience 25: 118-129. [link]

Rattner A., and Nathans J. (2005) The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia. Journal of Neuroscience 25: 4540-4549. [link]

Wang Y., Zhang J., Mori S., and Nathans J. (2006) Axonal growth and guidance defects in Frizzled3 knockout mice: a comparison of diffusion tensor magnetic resonance imaging, neurofilament staining, and genetically directed cell labeling.  Journal of Neuroscience 26: 355-364. [link]

Wang Y., Guo N., and Nathans J. (2006) The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner ear sensory hair cells. Journal of Neuroscience 26: 2147-2156. [link]

Chen, J., Rattner, A., and Nathans J. (2006) Effects of L1 retrotransposon insertion on transcript processing, localization, and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements. Human Molecular Genetics 15: 2146-2156. [link]

Tsunenari, T., Nathans, J., and Yau, K.-W. (2006) Calcium-activated chloride currents from human Bestrophin-4 in excised membrane patches. Journal of General Physiology 127: 749-754. [link]

Wang, Y. Badea, T., and Nathans, J. (2006) Order from disorder: self-organization in mammalian hair patterning. Proceedings of the National Academy of Sciences USA 103: 19800-19805. [link]

Smallwood, P.M., Williams, J., Xu, Q., Leahy, D.J., and Nathans, J. (2007) Mutational analysis of Norrin-Frizzled4 recognition. Journal of Biological Chemistry 282: 4057-4068. [link]

Jacobs, G.H., Williams, G.A., Cahill, H., and Nathans, J. (2007) Emergence of novel color vision in mice engineered to express a human cone photopigment. Science 315: 1723-1725. [link]

Chen, J. and Nathans, J. (2007) Genetic ablation of cone photoreceptors eliminates retinal folds in the retinal degeneration 7 (rd7) mouse. Investigative Ophthalmology and Visual Science 48: 2799-2805. [link]

Chen, J. and Nathans, J. (2007) Estrogen related receptor beta (NR3B2) controls epithelial cell fate and endolymph production by the stria vascularis. Developmental Cell 13: 325-337. [link]

Cahill, H. and Nathans, J. (2008) The optokinetic reflex as a tool for quantitative analyses of nervous system function in mice: application to genetic and drug-induced variation. Public Library of Science One 3: e2055. [link]

Liu, C., Wang, Y., Smallwood, P.M., and Nathans, J. (2008) An essential role for Frizzled5 in neuronal survival in the parafascicular nucleus of the thalamus. Journal of Neuroscience 28: 5641-5653. [link]

Rattner, A., Toulabi, L., Williams, J., Yu, H., Nathans J. (2008) The genomic response of the retinal pigment epithelium to light damage and retinal detachment. Journal of Neuroscience 28: 9880-9889. [link]

Liu, C., and Nathans, J. (2008) An essential role for Frizzled5 in mammalian ocular development. Development 135: 3567-3576. [link]

Rotolo, T., Smallwood, P.M., Williams, J., and Nathans, J. (2008) Genetically-directed, cell type-specific sparse labeling for the analysis of neuronal morphology. Public Library of Science One 3: e4099. [link]

Badea, T.C., Cahill, H., Ecker, J., Hattar, S., and Nathans, J. (2009) Distinct roles of transcription factors Brn3a and Brn3b in controlling the development, morphology, and function of retinal ganglion cells.  Neuron 61: 852-864. [link]

Ye, X., Wang, Y., Cahill, H., Yu, Y., Badea, T.C., Smallwood, P.M., Peachey, N.S., and Nathans, J. (2009) Norrin, Frizzled4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization.  Cell 139: 285-298. [link]

Badea, T.C., Hua, Z.L., Smallwood, P.M., Williams, J., Rotolo, T., Ye, X., and Nathans, J. (2009) New mouse lines for the analysis of neuronal morphology using CreER(T)/loxP-directed sparse labeling. Public Library of Science One 16: e7859. [link]

Yu, H., Smallwood, P.M., Wang, Y., Vidaltamayo, R., Reed, R., and Nathans, J. (2010) Frizzled 1 and frizzled 2 genes function in palate, ventricular septum and neural tube closure: general implications for tissue fusion processes. Development 137:3707-3717. [link]

Wang, Y., Chang, H., and Nathans, J. (2010) When whorls collide: the development of hair patterns in frizzled6 mutant mice. Development 137: 4091-4099. [link]

Ye, X., Smallwood, P., and Nathans, J. (2011) Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain. Gene Expression Patterns 11: 151-155. [link]

Badea, T., and Nathans, J. (2011) Morphologies of mouse retinal ganglion cells expressing transcription factors Brn3a, Brn3b, and Brn3c: analysis of wild type and mutant cells using genetically-directed sparse labeling. Vision Research 51:269-279. [link]

Chuang, N., Mori, S., Yamamoto, A., Jiang, H., Ye, X., Xu, X., Richards, L.J., Nathans, J., Miller, M.I., Toga, A.W., Sidman, R.L., and Zhang, J. (2011) An MRI-based atlas and database of the developing mouse brain. Neuroimage 54: 80-89. [link]

Ye, X., Wang, Y., Rattner, A., and Nathans, J. (2011) Genetic mosaic analysis reveals a major role for frizzled4 and frizzled8 in controlling ureteric growth in the developing kidney. Development 138: 1161-1172. [link]

Cahill, H., Rattner, A., and Nathans, J. (2011) Preclinical assessment of central nervous system drug action using eye movements in mice. Journal of Clinical Investigation 121: 3528-3541. [link]

Matsuoka, R.L., Chivatakarn, O., Badea, T.C., Samuels, I.S., Cahill, H., Katayama, K., Kumar, S.R., Suto, F., Chédotal, A., Peachey, N.S., Nathans, J., Yoshida, Y., Giger, R.J., Kolodkin, A.L. (2011) Class 5 transmembrane semaphorins control mammalian inner retinal lamination, neurite arborization, and function. Neuron 71: 460-473. [link]

Badea, T.C., Williams, J., Smallwood, P., Shi, M., Motajo, O., and Nathans, J. (2012) Combinatorial expression of Brn3 transcription factors in somatosensory neurons: genetic and morphologic analysis. Journal of Neuroscience 32: 995-1007. [link]

Yu, H., Ye, X., Guo, N. and Nathans, J. (2012) Frizzled2 and Frizzled7 function redundantly in convergent extension and closure of the ventricular septum and palate: evidence for a network of interacting genes. Development 139: 4383-4394. [link]

Wang, Y., Rattner, A., Zhou, Y., Williams, J., Smallwood, P.M., and Nathans, J. (2012) Norrin/Frizzled4 signaling in retinal vascular development and blood brain barrier plasticity. Cell 151: 1332-1344. [link]

Wu, H., Williams, J., and Nathans, J. (2012) Morphologic diversity of cutaneous sensory afferents revealed by genetically directed sparse labeling. eLife 1: e00181. [link]

Chang, H., and Nathans, J. (2013) Responses of hair follicle-associated structures to loss of planar cell polarity signaling. Proceedings of the National Academy of Sciences USA 110: E908-E917. [link]

Rattner, A., Yu, H. Williams, J., Smallwood, P.M., and Nathans, J. (2013) Endothelin2 signaling in the neural retina promotes the endothelial tip cell state and inhibits angiogenesis. Proceedings of the National Academy of Sciences USA 110: E3830-E3839. [link]

Hua, Z.L., Smallwood, P.M., and Nathans, J. (2013) Frizzled3 controls axonal development in distinct populations of cranial and spinal motor neurons. eLife 2: e01482. [link]

Wu, H., Luo, J, Yu, H., Rattner, A., Mo, A., Smallwood, P.M., Erlanger, B., Wheelan, S.J., and Nathans, J. (2014) Cellular resolution maps of X-chromosome inactivation: implications for neural development, function, and disease. Neuron 81: 103-119. [link]

Chang, H., Wang, Y., Wu, H., and Nathans, J. (2014) Flat mount imaging of mouse skin and its application to the analysis of hair follicle patterning and sensory axon morphology. Journal of Visualized Experiments: e51749. [link]

Hua, Z.L., Jeon, S., Caterina, M., and Nathans, J. (2014) Frizzled3 is required for the development of multiple axon tracts in the mouse central nervous system. Proceedings of the National Academy of Sciences USA 111: E3005-3014. [link]

Wu, H., Williams, J., and Nathans, J. (2014) Complete morphologies of basal forebrain cholinergic neurons in the mouse. eLife 3: e02444. [link]

Zhou, Y., Wang, Y., Tischfield, M., Williams, J., Smallwood, P.M., Rattner, A., Taketo, M.M., and Nathans, J. (2014) Canonical Wnt signaling components in vascular development and barrier formation. Journal of Clinical Investigation 124: 3825-3846. [link]

Hua, Z.L., Chang, H., Wang, Y., Smallwood, P.M., and Nathans, J. (2014) Partial interchangeability of Frizzled3 and Frizzled6 in tissue polarity signaling for epithelial orientation and axon growth and guidance. Development 141: 3944-3954. [link]

Zhou, Y., and Nathans, J. (2014) Gpr124 controls CNS angiogenesis and blood-brain barrier integrity by promoting ligand-specific canonical Wnt signaling. Developmental Cell 31: 248-256. [link]

Rattner, A., Wang, Y., Zhou, Y., Williams, J., and Nathans, J. (2014) The role of the hypoxia response in shaping retinal vascular development in the absence of Norrin/Frizzled4 signaling. Investigative Ophthalmology and Visual Science 55: 8614-8625. [link]

Sun, L.O., Brady, C.M., Cahill, H., Al-Khindi, T., Sakuta, H., Dhande, O.S., Noda, M., Huberman, A.D., Nathans, J., and Kolodkin, A.L. (2015) Functional assembly of accessory optic system circuitry critical for compensatory eye movements. Neuron 86:971-984. [link]

Vanhollebeke, B., Stone, O.A., Bostaille, N., Cho, C., Zhou, Y., Maquet, E., Gauquier, A., Cabochette, P., Fukuhara, S., Mochizuki, N., Nathans, J., and Stainier, D.Y. (2015) Tip cell-specific requirement for an atypical Gpr124- and Reck-dependent Wnt/β-catenin pathway during brain angiogenesis. eLife 4: e06489. [link]

Mo, A., Mukamel, E.A., Davis, F.P., Luo, C., Henry, G.L., Picard, S., Urich, M.A., Nery, J.R., Sejnowski, T.J., Lister, R., Eddy, S.R., Ecker, J.R., and Nathans, J. (2015) Epigenomic signatures of neuronal diversity in the mammalian brain. Neuron 86: 1369-1384. [link]

Chang, H., Cahill, H., Smallwood, P.M., Wang, Y., and Nathans, J. (2015) Identification of Astrotactin2 as a genetic modifier that regulates the global orientation of mammalian hair follicles. PLOS Genetics 11: e1005532. [link]

Hua, Z.L., Emiliani, F.E., and Nathans, J. (2015) Rac1 plays an essential role in axon growth and guidance and in neuronal survival in the central and peripheral nervous systems. Neural Development 10: 21. [link]

Zhou, Y., Williams, J., Smallwood, P.M., and Nathans, J. (2015) Sox7, Sox17, and Sox18 cooperatively regulate vascular development in the mouse retina. PLOS One 10: e0143650. [link]

Chang, H., Smallwood, P.M., Williams, J., and Nathans, J. (2016) The spatio-temporal domains of Frizzled6 action in planar polarity control of hair follicle orientation. Developmental Biology 409: 181-193. [link]

Mo, A., Luo, C., Davis, F.P., Mukamel, E.A., Henry, G.L., Nery, J.R., Urich, M.A., Picard, S., Lister, R., Eddy, S.R., Beer, M.A., Ecker, J.R., and Nathans, J. (2016) Epigenomic landscapes of retinal rods and cones. eLife 5: e11613. [link]

Wang, Y., Williams, J., Rattner, A., Wu, S., Bassuk, A.G., Goffinet, A.M., and Nathans, J. (2016) Patterning of papillae on the mouse tongue: A system for the quantitative assessment of planar cell polarity signaling. Developmental Biology 419: 298-310. [link]

Chang, H., Smallwood, P.M., Williams, J., and Nathans, J. (2017) Intramembrane proteolysis of Astrotactins. Journal of Biological Chemistry 292: 3506-3516. [link]

Cho C., Smallwood P.M., and Nathans J. (2017) Reck and Gpr124 Are Essential Receptor Cofactors for Wnt7a/Wnt7b-Specific Signaling in Mammalian CNS Angiogenesis and Blood-Brain Barrier Regulation. Neuron 95: 1056-1073. [link]

Tischfield, M.A., Robson, C.D., Gilette, N.M., Chim, S.M., Sofela, F.A., DeLisle, M.M., Gelber, A., Barry, B.J., MacKinnon, S., Dagi, L.R., Nathans, J., and Engle, E.C. (2017) Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. Developmental Cell 42: 445-461. [link]

Cook, J.D., Ng, S.Y., Lloyd, M., Eddington, S., Sun, H., Nathans, J., Bok, D., Radu, R.A., and Travis, G.H. (2017) Peropsin modulates transit of vitamin A from retina to retinal pigment epithelium. Journal of Biological Chemistry 292: 21407-21416. [link]

Sabbagh, M.F., Heng, J.S., Luo, C., Castanon, R.G., Nery, J.R., Rattner, A., Goff, L.A., Ecker, J.R., and Nathans, J. (2018) Transcriptional and epigenomic landscapes of CNS and non-CNS vascular endothelial cells. eLife 7: e36187. [link]

Peng, X., Emiliani, F., Smallwood, P.M., Rattner, A., Lei, H., Sabbagh, M.F., and Nathans, J. (2018) Affinity capture of polyribosomes followed by RNAseq (ACAPseq), a discovery platform for protein-protein interactions.  eLife 7: e40982. [link]

Wang, Y., Cho, C., Williams, J., Smallwood, P.M., Zhang, C., Junge, H.J., and Nathans, J. (2018) Interplay of the Norrin and Wnt7a/Wnt7b signaling systems in blood-brain barrier and blood-retina barrier development and maintenance. Proceedings of the National Academy of Sciences USA 15: E11827-E11836. [link]

Wang, Y., Sabbagh, M.F., Gu, X., Rattner, A., Williams, J., and Nathans, J. (2019) Beta-catenin signaling regulates barrier-specific gene expression in circumventricular organ and ocular vasculatures. eLife 8: e43257. [link]

Heng, J.S., Rattner, A., Stein-O’Brien, G.L., Winer, B.L., Jones, B.W., Vernon, H.J., Goff, L.A., and Nathans, J. (2019) Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution. Proceedings of the National Academy of Sciences USA 116: 9103-9114. [link]

Cho, C., Wang, Y., Smallwood, P.M., Williams, J., and Nathans, J. (2019) Dlg1 activates beta-catenin signaling to regulate retinal angiogenesis and the blood-retina and blood-brain barriers. eLife 8: e45542. [link]

Cho, C., Wang, Y., Smallwood, P.M., Williams, J., and Nathans, J. (2019) Molecular determinants in Frizzled, Reck, and Wnt7a for ligand-specific signaling in neurovascular development. eLife 8: e47300. [link]

Peng, X., Williams J., Smallwood, P.M., and Nathans, J. (2019) Defining the binding interface of Amyloid Precursor Protein (APP) and Contactin3 (CNTN3) by site-directed mutagenesis. PLoS One 14: e0219384. [link]

Rattner, A., Williams, J., and Nathans J. (2019) Roles of HIFs and VEGF in angiogenesis in the retina and brain. Journal of Clinical Investigation 130: 3807-3820. [link]

Heng, J.S., Hackett, S.F., Wang, Y., Stein-O’Brien, G.L., Winer, B.L., Williams, J., Goff, L.A. and Nathans, J. (2019) Comprehensive analysis of a mouse model of spontaneous uveoretinitis using single-cell RNA sequencing. Proceedings of the National Academy of Sciences USA 116: 26734-26744. [link]

Sabbagh, M.F., and Nathans, J. (2020) A genome-wide view of the de-differentiation of central nervous system endothelial cells in culture. eLife 9: e51276. [link]

Wang, Y., Smallwood, P.M., Williams, J., and Nathans, J. (2020) A mouse model for Kinesin Family Member 11 (Kif11) associated familial exudative vitreoretinopathy. Human Molecular Genetics 29: 1121-1131. [link]

Chang, T.-H., Hsieh, F.-L., Smallwood, P.M., Gabelli, S.B., and Nathans, J. (2020) Structure of the RECK CC domain, an evolutionary anomaly. Proceedings of the National Academy of Sciences USA 117: 15104-15111. [link]

Rattner, A., Terrillion, C.E., Jou, C., Kleven, T., Hu, S.F., Williams, J., Hou, Z., Aggarwal, M., Mori, S., Shin, G., Goff, L.A., Witter, M.P., Pletnikov, M., Fenton, A.A., and Nathans, J. (2020) Developmental, cellular, and behavioral phenotypes in a mouse model of congenital hypoplasia of the dentate gyrus. eLife 9: e62766. [link]

Wang, J., Rattner, A., and Nathans, J. (2021) A transcriptome atlas of the mouse iris at single-cell resolution defines cell types and the genomic response to pupil dilation. eLife. 10: e73477. [link]

Wang, Y., Venkatesh, A., Xu, J., Xu, M., Williams, J., Smallwood, P.M., and Nathans, J. (2022) The WNT7A/WNT7B/GPR124/RECK Signaling Module Plays an Essential Role in Mammalian Limb Development. Development 149: dev200340. [link]

Chang, T.-H., Hsieh, F.-L., Gu, X., Smallwood, P.M., Kavran, J., Gabelli, S., and Nathans, J. (2023) Biochemical and structural insights into Plasmalemma Vesicle-Associated Protein (PLVAP): implications for vascular endothelial diaphragms and fenestrae.  Proceedings of the National Academy of Sciences USA 120: e2221103120. [link]

Hsieh, F.-L., Chang, T.-H., Gabelli, S., and Nathans, J. (2023) Structure of WNT inhibitor Adenomatosis Polyposis Coli Down-Regulated 1 (APCDD1), a cell-surface lipid-binding protein.  Proceedings of the National Academy of Sciences USA 120: e2217096120. [link]

Wang, J., Rattner, A. and Nathans, J. (2023) Bacterial meningitis in the early postnatal mouse studied at single-cell resolution.  eLife 12: e86130. [link]

Rattner, A., Heng, J., Winer, B.L., Goff, L.A., and Nathans, J. (2023) Normal and Sjogren’s syndrome models of the murine lacrimal gland studied at single-cell resolution. Proceedings of the National Academy of Sciences USA 120:e2311983120. [link]