Publications By Researchers

Jeremy Nathans

  1. Li, Z, Rattner, A, Wang, Y, Smallwood, PM, Sabbagh, M, Mannion, BJ et al.. Enhancers that direct gene expression to central nervous system vascular endothelial cells in vivo. Neuron. 2026;114 (10):1736-1750.e9. doi: 10.1016/j.neuron.2026.03.002. PubMed PMID:41916278 .
  2. Wang, Y, Rattner, A, Li, Z, Smallwood, PM, Nathans, J. Vascular endothelial-specific loss of TGF-beta signaling as a model for choroidal neovascularization and central nervous system vascular inflammation. Elife. 2025;14 :. doi: 10.7554/eLife.107018. PubMed PMID:41432545 PubMed Central PMC12726833.
  3. Zhu, N, Smallwood, PM, Williams, J, Wang, Y, Nathans, JH. Utility of binding protein fusions to immunoglobulin heavy chain constant regions from mammalian and avian species. J Biol Chem. 2025;301 (4):108324. doi: 10.1016/j.jbc.2025.108324. PubMed PMID:39971160 PubMed Central PMC11964738.
  4. Zhu, N, Smallwood, PM, Rattner, A, Chang, TH, Williams, J, Wang, Y et al.. Utility of protein-protein binding surfaces composed of anti-parallel alpha-helices and beta-sheets selected by phage display. J Biol Chem. 2024;300 (5):107283. doi: 10.1016/j.jbc.2024.107283. PubMed PMID:38608728 PubMed Central PMC11107207.
  5. Rattner, A, Heng, JS, Winer, BL, Goff, LA, Nathans, J. Normal and Sjogren's syndrome models of the murine lacrimal gland studied at single-cell resolution. Proc Natl Acad Sci U S A. 2023;120 (42):e2311983120. doi: 10.1073/pnas.2311983120. PubMed PMID:37812717 PubMed Central PMC10589653.
  6. Nathans, J. Seeing is believing: The development of optical coherence tomography. Proc Natl Acad Sci U S A. 2023;120 (39):e2311129120. doi: 10.1073/pnas.2311129120. PubMed PMID:37732756 PubMed Central PMC10523475.
  7. Wang, J, Rattner, A, Nathans, J. Bacterial meningitis in the early postnatal mouse studied at single-cell resolution. Elife. 2023;12 :. doi: 10.7554/eLife.86130. PubMed PMID:37318981 PubMed Central PMC10270687.
  8. Hsieh, FL, Chang, TH, Gabelli, SB, Nathans, J. Structure of WNT inhibitor adenomatosis polyposis coli down-regulated 1 (APCDD1), a cell-surface lipid-binding protein. Proc Natl Acad Sci U S A. 2023;120 (20):e2217096120. doi: 10.1073/pnas.2217096120. PubMed PMID:37155902 PubMed Central PMC10193966.
  9. Chang, TH, Hsieh, FL, Gu, X, Smallwood, PM, Kavran, JM, Gabelli, SB et al.. Structural insights into plasmalemma vesicle-associated protein (PLVAP): Implications for vascular endothelial diaphragms and fenestrae. Proc Natl Acad Sci U S A. 2023;120 (14):e2221103120. doi: 10.1073/pnas.2221103120. PubMed PMID:36996108 PubMed Central PMC10083539.
  10. Rattner, A, Wang, Y, Nathans, J. Signaling Pathways in Neurovascular Development. Annu Rev Neurosci. 2022;45 :87-108. doi: 10.1146/annurev-neuro-111020-102127. PubMed PMID:35803586 .
  11. Wang, Y, Venkatesh, A, Xu, J, Xu, M, Williams, J, Smallwood, PM et al.. The WNT7A/WNT7B/GPR124/RECK signaling module plays an essential role in mammalian limb development. Development. 2022;149 (9):. doi: 10.1242/dev.200340. PubMed PMID:35552394 PubMed Central PMC9148564.
  12. Wang, J, Rattner, A, Nathans, J. A transcriptome atlas of the mouse iris at single-cell resolution defines cell types and the genomic response to pupil dilation. Elife. 2021;10 :. doi: 10.7554/eLife.73477. PubMed PMID:34783308 PubMed Central PMC8594943.
  13. Rattner, A, Terrillion, CE, Jou, C, Kleven, T, Hu, SF, Williams, J et al.. Developmental, cellular, and behavioral phenotypes in a mouse model of congenital hypoplasia of the dentate gyrus. Elife. 2020;9 :. doi: 10.7554/eLife.62766. PubMed PMID:33084572 PubMed Central PMC7577738.
  14. Chang, TH, Hsieh, FL, Smallwood, PM, Gabelli, SB, Nathans, J. Structure of the RECK CC domain, an evolutionary anomaly. Proc Natl Acad Sci U S A. 2020;117 (26):15104-15111. doi: 10.1073/pnas.2006332117. PubMed PMID:32541044 PubMed Central PMC7334487.
  15. Wang, Y, Smallwood, PM, Williams, J, Nathans, J. A mouse model for kinesin family member 11 (Kif11)-associated familial exudative vitreoretinopathy. Hum Mol Genet. 2020;29 (7):1121-1131. doi: 10.1093/hmg/ddaa018. PubMed PMID:31993640 PubMed Central PMC7206855.
  16. Sabbagh, MF, Nathans, J. A genome-wide view of the de-differentiation of central nervous system endothelial cells in culture. Elife. 2020;9 :. doi: 10.7554/eLife.51276. PubMed PMID:31913116 PubMed Central PMC6948952.
  17. Heng, JS, Hackett, SF, Stein-O'Brien, GL, Winer, BL, Williams, J, Goff, LA et al.. Comprehensive analysis of a mouse model of spontaneous uveoretinitis using single-cell RNA sequencing. Proc Natl Acad Sci U S A. 2019;116 (52):26734-26744. doi: 10.1073/pnas.1915571116. PubMed PMID:31843893 PubMed Central PMC6936593.
  18. Rattner, A, Williams, J, Nathans, J. Roles of HIFs and VEGF in angiogenesis in the retina and brain. J Clin Invest. 2019;129 (9):3807-3820. doi: 10.1172/JCI126655. PubMed PMID:31403471 PubMed Central PMC6715377.
  19. Peng, X, Williams, J, Smallwood, PM, Nathans, J. Defining the binding interface of Amyloid Precursor Protein (APP) and Contactin3 (CNTN3) by site-directed mutagenesis. PLoS One. 2019;14 (7):e0219384. doi: 10.1371/journal.pone.0219384. PubMed PMID:31318883 PubMed Central PMC6638891.
  20. Cho, C, Wang, Y, Smallwood, PM, Williams, J, Nathans, J. Molecular determinants in Frizzled, Reck, and Wnt7a for ligand-specific signaling in neurovascular development. Elife. 2019;8 :. doi: 10.7554/eLife.47300. PubMed PMID:31225798 PubMed Central PMC6588345.
  21. Cho, C, Wang, Y, Smallwood, PM, Williams, J, Nathans, J. Dlg1 activates beta-catenin signaling to regulate retinal angiogenesis and the blood-retina and blood-brain barriers. Elife. 2019;8 :. doi: 10.7554/eLife.45542. PubMed PMID:31066677 PubMed Central PMC6506210.
  22. Heng, JS, Rattner, A, Stein-O'Brien, GL, Winer, BL, Jones, BW, Vernon, HJ et al.. Hypoxia tolerance in the Norrin-deficient retina and the chronically hypoxic brain studied at single-cell resolution. Proc Natl Acad Sci U S A. 2019;116 (18):9103-9114. doi: 10.1073/pnas.1821122116. PubMed PMID:30988181 PubMed Central PMC6500147.
  23. Wang, Y, Sabbagh, MF, Gu, X, Rattner, A, Williams, J, Nathans, J et al.. Beta-catenin signaling regulates barrier-specific gene expression in circumventricular organ and ocular vasculatures. Elife. 2019;8 :. doi: 10.7554/eLife.43257. PubMed PMID:30932813 PubMed Central PMC6443350.
  24. Wang, Y, Cho, C, Williams, J, Smallwood, PM, Zhang, C, Junge, HJ et al.. Interplay of the Norrin and Wnt7a/Wnt7b signaling systems in blood-brain barrier and blood-retina barrier development and maintenance. Proc Natl Acad Sci U S A. 2018;115 (50):E11827-E11836. doi: 10.1073/pnas.1813217115. PubMed PMID:30478038 PubMed Central PMC6294914.
  25. Peng, X, Emiliani, F, Smallwood, PM, Rattner, A, Lei, H, Sabbagh, MF et al.. Affinity capture of polyribosomes followed by RNAseq (ACAPseq), a discovery platform for protein-protein interactions. Elife. 2018;7 :. doi: 10.7554/eLife.40982. PubMed PMID:30345971 PubMed Central PMC6197854.
  26. Sabbagh, MF, Heng, JS, Luo, C, Castanon, RG, Nery, JR, Rattner, A et al.. Transcriptional and epigenomic landscapes of CNS and non-CNS vascular endothelial cells. Elife. 2018;7 :. doi: 10.7554/eLife.36187. PubMed PMID:30188322 PubMed Central PMC6126923.
  27. Cook, JD, Ng, SY, Lloyd, M, Eddington, S, Sun, H, Nathans, J et al.. Peropsin modulates transit of vitamin A from retina to retinal pigment epithelium. J Biol Chem. 2017;292 (52):21407-21416. doi: 10.1074/jbc.M117.812701. PubMed PMID:29109151 PubMed Central PMC5766940.
  28. Cho, C, Smallwood, PM, Nathans, J. Reck and Gpr124 Are Essential Receptor Cofactors for Wnt7a/Wnt7b-Specific Signaling in Mammalian CNS Angiogenesis and Blood-Brain Barrier Regulation. Neuron. 2017;95 (5):1221-1225. doi: 10.1016/j.neuron.2017.08.032. PubMed PMID:28858622 .
  29. Tischfield, MA, Robson, CD, Gilette, NM, Chim, SM, Sofela, FA, DeLisle, MM et al.. Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura. Dev Cell. 2017;42 (5):445-461.e5. doi: 10.1016/j.devcel.2017.07.027. PubMed PMID:28844842 PubMed Central PMC5595652.
  30. Cho, C, Smallwood, PM, Nathans, J. Reck and Gpr124 Are Essential Receptor Cofactors for Wnt7a/Wnt7b-Specific Signaling in Mammalian CNS Angiogenesis and Blood-Brain Barrier Regulation. Neuron. 2017;95 (5):1056-1073.e5. doi: 10.1016/j.neuron.2017.07.031. PubMed PMID:28803732 PubMed Central PMC5586543.
  31. Nathans, J. Population growth: Help to make food go further in Egypt. Nature. 2017;546 (7657):210. doi: 10.1038/546210e. PubMed PMID:28593965 .
  32. Chang, H, Smallwood, PM, Williams, J, Nathans, J. Intramembrane Proteolysis of Astrotactins. J Biol Chem. 2017;292 (8):3506-3516. doi: 10.1074/jbc.M116.768077. PubMed PMID:28100779 PubMed Central PMC5336181.
  33. Wang, Y, Williams, J, Rattner, A, Wu, S, Bassuk, AG, Goffinet, AM et al.. Patterning of papillae on the mouse tongue: A system for the quantitative assessment of planar cell polarity signaling. Dev Biol. 2016;419 (2):298-310. doi: 10.1016/j.ydbio.2016.09.004. PubMed PMID:27612405 .
  34. Adler, PN, Nathans, J. THE CELLULAR COMPASS. Sci Am. 2016;314 (3):66-71. . PubMed PMID:27066647 .
  35. Nathans, J, Sterling, P. How scientists can reduce their carbon footprint. Elife. 2016;5 :. doi: 10.7554/eLife.15928. PubMed PMID:27029962 PubMed Central PMC4829415.
  36. Wang, Y, Chang, H, Rattner, A, Nathans, J. Frizzled Receptors in Development and Disease. Curr Top Dev Biol. 2016;117 :113-39. doi: 10.1016/bs.ctdb.2015.11.028. PubMed PMID:26969975 PubMed Central PMC5103317.
  37. Mo, A, Luo, C, Davis, FP, Mukamel, EA, Henry, GL, Nery, JR et al.. Epigenomic landscapes of retinal rods and cones. Elife. 2016;5 :e11613. doi: 10.7554/eLife.11613. PubMed PMID:26949250 PubMed Central PMC4798964.
  38. Zhou, Y, Williams, J, Smallwood, PM, Nathans, J. Sox7, Sox17, and Sox18 Cooperatively Regulate Vascular Development in the Mouse Retina. PLoS One. 2015;10 (12):e0143650. doi: 10.1371/journal.pone.0143650. PubMed PMID:26630461 PubMed Central PMC4667919.
  39. Chang, H, Smallwood, PM, Williams, J, Nathans, J. The spatio-temporal domains of Frizzled6 action in planar polarity control of hair follicle orientation. Dev Biol. 2016;409 (1):181-193. doi: 10.1016/j.ydbio.2015.10.027. PubMed PMID:26517967 PubMed Central PMC5125082.
  40. Chang, H, Cahill, H, Smallwood, PM, Wang, Y, Nathans, J. Identification of Astrotactin2 as a Genetic Modifier That Regulates the Global Orientation of Mammalian Hair Follicles. PLoS Genet. 2015;11 (9):e1005532. doi: 10.1371/journal.pgen.1005532. PubMed PMID:26418459 PubMed Central PMC4587951.
  41. Hua, ZL, Emiliani, FE, Nathans, J. Rac1 plays an essential role in axon growth and guidance and in neuronal survival in the central and peripheral nervous systems. Neural Dev. 2015;10 :21. doi: 10.1186/s13064-015-0049-3. PubMed PMID:26395878 PubMed Central PMC4580344.
  42. Mo, A, Mukamel, EA, Davis, FP, Luo, C, Henry, GL, Picard, S et al.. Epigenomic Signatures of Neuronal Diversity in the Mammalian Brain. Neuron. 2015;86 (6):1369-84. doi: 10.1016/j.neuron.2015.05.018. PubMed PMID:26087164 PubMed Central PMC4499463.
  43. Vanhollebeke, B, Stone, OA, Bostaille, N, Cho, C, Zhou, Y, Maquet, E et al.. Tip cell-specific requirement for an atypical Gpr124- and Reck-dependent Wnt/β-catenin pathway during brain angiogenesis. Elife. 2015;4 :. doi: 10.7554/eLife.06489. PubMed PMID:26051822 PubMed Central PMC4456509.
  44. Sun, LO, Brady, CM, Cahill, H, Al-Khindi, T, Sakuta, H, Dhande, OS et al.. Functional assembly of accessory optic system circuitry critical for compensatory eye movements. Neuron. 2015;86 (4):971-984. doi: 10.1016/j.neuron.2015.03.064. PubMed PMID:25959730 PubMed Central PMC4441577.
  45. Rattner, A, Wang, Y, Zhou, Y, Williams, J, Nathans, J. The role of the hypoxia response in shaping retinal vascular development in the absence of Norrin/Frizzled4 signaling. Invest Ophthalmol Vis Sci. 2014;55 (12):8614-25. doi: 10.1167/iovs.14-15693. PubMed PMID:25414188 PubMed Central PMC4280883.
  46. Zhou, Y, Nathans, J. Gpr124 controls CNS angiogenesis and blood-brain barrier integrity by promoting ligand-specific canonical wnt signaling. Dev Cell. 2014;31 (2):248-56. doi: 10.1016/j.devcel.2014.08.018. PubMed PMID:25373781 PubMed Central PMC4223636.
  47. Hua, ZL, Chang, H, Wang, Y, Smallwood, PM, Nathans, J. Partial interchangeability of Fz3 and Fz6 in tissue polarity signaling for epithelial orientation and axon growth and guidance. Development. 2014;141 (20):3944-54. doi: 10.1242/dev.110189. PubMed PMID:25294940 PubMed Central PMC4197693.
  48. Zhou, Y, Wang, Y, Tischfield, M, Williams, J, Smallwood, PM, Rattner, A et al.. Canonical WNT signaling components in vascular development and barrier formation. J Clin Invest. 2014;124 (9):3825-46. doi: 10.1172/JCI76431. PubMed PMID:25083995 PubMed Central PMC4151216.
  49. Chang, H, Wang, Y, Wu, H, Nathans, J. Flat mount imaging of mouse skin and its application to the analysis of hair follicle patterning and sensory axon morphology. J Vis Exp. 2014; (88):e51749. doi: 10.3791/51749. PubMed PMID:24999071 PubMed Central PMC4205958.
  50. Wu, H, Williams, J, Nathans, J. Complete morphologies of basal forebrain cholinergic neurons in the mouse. Elife. 2014;3 :e02444. doi: 10.7554/eLife.02444. PubMed PMID:24894464 PubMed Central PMC4038840.
  51. Hua, ZL, Jeon, S, Caterina, MJ, Nathans, J. Frizzled3 is required for the development of multiple axon tracts in the mouse central nervous system. Proc Natl Acad Sci U S A. 2014;111 (29):E3005-14. doi: 10.1073/pnas.1406399111. PubMed PMID:24799694 PubMed Central PMC4115534.
  52. Wu, H, Luo, J, Yu, H, Rattner, A, Mo, A, Wang, Y et al.. Cellular resolution maps of X chromosome inactivation: implications for neural development, function, and disease. Neuron. 2014;81 (1):103-19. doi: 10.1016/j.neuron.2013.10.051. PubMed PMID:24411735 PubMed Central PMC3950970.
  53. Hua, ZL, Smallwood, PM, Nathans, J. Frizzled3 controls axonal development in distinct populations of cranial and spinal motor neurons. Elife. 2013;2 :e01482. doi: 10.7554/eLife.01482. PubMed PMID:24347548 PubMed Central PMC3865743.
  54. Rattner, A, Yu, H, Williams, J, Smallwood, PM, Nathans, J. Endothelin-2 signaling in the neural retina promotes the endothelial tip cell state and inhibits angiogenesis. Proc Natl Acad Sci U S A. 2013;110 (40):E3830-9. doi: 10.1073/pnas.1315509110. PubMed PMID:24043815 PubMed Central PMC3791783.
  55. Huang, L, Rattner, A, Liu, H, Nathans, J. How to draw the line in biomedical research. Elife. 2013;2 :e00638. doi: 10.7554/eLife.00638. PubMed PMID:23538852 PubMed Central PMC3601633.
  56. Chang, H, Nathans, J. Responses of hair follicle-associated structures to loss of planar cell polarity signaling. Proc Natl Acad Sci U S A. 2013;110 (10):E908-17. doi: 10.1073/pnas.1301430110. PubMed PMID:23431170 PubMed Central PMC3593913.
  57. Wu, H, Williams, J, Nathans, J. Morphologic diversity of cutaneous sensory afferents revealed by genetically directed sparse labeling. Elife. 2012;1 :e00181. doi: 10.7554/eLife.00181. PubMed PMID:23256042 PubMed Central PMC3524796.
  58. Wang, Y, Rattner, A, Zhou, Y, Williams, J, Smallwood, PM, Nathans, J et al.. Norrin/Frizzled4 signaling in retinal vascular development and blood brain barrier plasticity. Cell. 2012;151 (6):1332-44. doi: 10.1016/j.cell.2012.10.042. PubMed PMID:23217714 PubMed Central PMC3535266.
  59. Yu, H, Ye, X, Guo, N, Nathans, J. Frizzled 2 and frizzled 7 function redundantly in convergent extension and closure of the ventricular septum and palate: evidence for a network of interacting genes. Development. 2012;139 (23):4383-94. doi: 10.1242/dev.083352. PubMed PMID:23095888 PubMed Central PMC3509732.
  60. Badea, TC, Williams, J, Smallwood, P, Shi, M, Motajo, O, Nathans, J et al.. Combinatorial expression of Brn3 transcription factors in somatosensory neurons: genetic and morphologic analysis. J Neurosci. 2012;32 (3):995-1007. doi: 10.1523/JNEUROSCI.4755-11.2012. PubMed PMID:22262898 PubMed Central PMC3428801.
  61. Julius, D, Nathans, J. Signaling by sensory receptors. Cold Spring Harb Perspect Biol. 2012;4 (1):a005991. doi: 10.1101/cshperspect.a005991. PubMed PMID:22110046 PubMed Central PMC3249628.
  62. Matsuoka, RL, Chivatakarn, O, Badea, TC, Samuels, IS, Cahill, H, Katayama, K et al.. Class 5 transmembrane semaphorins control selective Mammalian retinal lamination and function. Neuron. 2011;71 (3):460-73. doi: 10.1016/j.neuron.2011.06.009. PubMed PMID:21835343 PubMed Central PMC3164552.
  63. Cahill, H, Rattner, A, Nathans, J. Preclinical assessment of CNS drug action using eye movements in mice. J Clin Invest. 2011;121 (9):3528-41. doi: 10.1172/JCI45557. PubMed PMID:21821912 PubMed Central PMC3163951.
  64. Ye, X, Wang, Y, Rattner, A, Nathans, J. Genetic mosaic analysis reveals a major role for frizzled 4 and frizzled 8 in controlling ureteric growth in the developing kidney. Development. 2011;138 (6):1161-72. doi: 10.1242/dev.057620. PubMed PMID:21343368 PubMed Central PMC3042871.
  65. Nathans, J. China's plan flawed but courageous. Science. 2010;330 (6011):1625. doi: 10.1126/science.330.6011.1625-a. PubMed PMID:21163997 .
  66. Wang, Y, Chang, H, Nathans, J. When whorls collide: the development of hair patterns in frizzled 6 mutant mice. Development. 2010;137 (23):4091-9. doi: 10.1242/dev.057455. PubMed PMID:21062866 PubMed Central PMC2976288.
  67. Ye, X, Smallwood, P, Nathans, J. Expression of the Norrie disease gene (Ndp) in developing and adult mouse eye, ear, and brain. Gene Expr Patterns. 2011;11 (1-2):151-5. doi: 10.1016/j.gep.2010.10.007. PubMed PMID:21055480 PubMed Central PMC3061303.
  68. Yu, H, Smallwood, PM, Wang, Y, Vidaltamayo, R, Reed, R, Nathans, J et al.. Frizzled 1 and frizzled 2 genes function in palate, ventricular septum and neural tube closure: general implications for tissue fusion processes. Development. 2010;137 (21):3707-17. doi: 10.1242/dev.052001. PubMed PMID:20940229 PubMed Central PMC2964100.
  69. Badea, TC, Nathans, J. 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 Res. 2011;51 (2):269-79. doi: 10.1016/j.visres.2010.08.039. PubMed PMID:20826176 PubMed Central PMC3038626.
  70. Ye, X, Wang, Y, Nathans, J. The Norrin/Frizzled4 signaling pathway in retinal vascular development and disease. Trends Mol Med. 2010;16 (9):417-25. doi: 10.1016/j.molmed.2010.07.003. PubMed PMID:20688566 PubMed Central PMC2963063.
  71. Chuang, N, Mori, S, Yamamoto, A, Jiang, H, Ye, X, Xu, X et al.. An MRI-based atlas and database of the developing mouse brain. Neuroimage. 2011;54 (1):80-9. doi: 10.1016/j.neuroimage.2010.07.043. PubMed PMID:20656042 PubMed Central PMC2962762.
  72. Badea, TC, Hua, ZL, Smallwood, PM, Williams, J, Rotolo, T, Ye, X et al.. New mouse lines for the analysis of neuronal morphology using CreER(T)/loxP-directed sparse labeling. PLoS One. 2009;4 (11):e7859. doi: 10.1371/journal.pone.0007859. PubMed PMID:19924248 PubMed Central PMC2775668.
  73. Ye, X, Wang, Y, Cahill, H, Yu, M, Badea, TC, Smallwood, PM et al.. Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization. Cell. 2009;139 (2):285-98. doi: 10.1016/j.cell.2009.07.047. PubMed PMID:19837032 PubMed Central PMC2779707.
  74. Jacobs, GH, Nathans, J. The evolution of Primate color vision. Sci Am. 2009;300 (4):56-63. doi: 10.1038/scientificamerican0409-56. PubMed PMID:19363921 .
  75. Badea, TC, Cahill, H, Ecker, J, Hattar, S, Nathans, J. Distinct roles of transcription factors brn3a and brn3b in controlling the development, morphology, and function of retinal ganglion cells. Neuron. 2009;61 (6):852-64. doi: 10.1016/j.neuron.2009.01.020. PubMed PMID:19323995 PubMed Central PMC2679215.
  76. Rotolo, T, Smallwood, PM, Williams, J, Nathans, J. Genetically-directed, cell type-specific sparse labeling for the analysis of neuronal morphology. PLoS One. 2008;3 (12):e4099. doi: 10.1371/journal.pone.0004099. PubMed PMID:19116659 PubMed Central PMC2605552.
  77. Liu, C, Nathans, J. An essential role for frizzled 5 in mammalian ocular development. Development. 2008;135 (21):3567-76. doi: 10.1242/dev.028076. PubMed PMID:18832390 .
  78. Rattner, A, Toulabi, L, Williams, J, Yu, H, Nathans, J. The genomic response of the retinal pigment epithelium to light damage and retinal detachment. J Neurosci. 2008;28 (39):9880-9. doi: 10.1523/JNEUROSCI.2401-08.2008. PubMed PMID:18815272 PubMed Central PMC2570851.
  79. Liu, C, Wang, Y, Smallwood, PM, Nathans, J. An essential role for Frizzled5 in neuronal survival in the parafascicular nucleus of the thalamus. J Neurosci. 2008;28 (22):5641-53. doi: 10.1523/JNEUROSCI.1056-08.2008. PubMed PMID:18509025 PubMed Central PMC6670808.
  80. Cahill, H, Nathans, J. The optokinetic reflex as a tool for quantitative analyses of nervous system function in mice: application to genetic and drug-induced variation. PLoS One. 2008;3 (4):e2055. doi: 10.1371/journal.pone.0002055. PubMed PMID:18446207 PubMed Central PMC2323102.
  81. Chen, J, Nathans, J. Estrogen-related receptor beta/NR3B2 controls epithelial cell fate and endolymph production by the stria vascularis. Dev Cell. 2007;13 (3):325-37. doi: 10.1016/j.devcel.2007.07.011. PubMed PMID:17765677 .
  82. Chen, J, Nathans, J. Genetic ablation of cone photoreceptors eliminates retinal folds in the retinal degeneration 7 (rd7) mouse. Invest Ophthalmol Vis Sci. 2007;48 (6):2799-805. doi: 10.1167/iovs.06-0922. PubMed PMID:17525215 .
  83. Jacobs, GH, Williams, GA, Cahill, H, Nathans, J. Emergence of novel color vision in mice engineered to express a human cone photopigment. Science. 2007;315 (5819):1723-5. doi: 10.1126/science.1138838. PubMed PMID:17379811 .
  84. Wang, Y, Nathans, J. Tissue/planar cell polarity in vertebrates: new insights and new questions. Development. 2007;134 (4):647-58. doi: 10.1242/dev.02772. PubMed PMID:17259302 .
  85. Wang, Y, Badea, T, Nathans, J. Order from disorder: Self-organization in mammalian hair patterning. Proc Natl Acad Sci U S A. 2006;103 (52):19800-5. doi: 10.1073/pnas.0609712104. PubMed PMID:17172440 PubMed Central PMC1750877.
  86. Smallwood, PM, Williams, J, Xu, Q, Leahy, DJ, Nathans, J. Mutational analysis of Norrin-Frizzled4 recognition. J Biol Chem. 2007;282 (6):4057-68. doi: 10.1074/jbc.M609618200. PubMed PMID:17158104 .
  87. Rattner, A, Nathans, J. Macular degeneration: recent advances and therapeutic opportunities. Nat Rev Neurosci. 2006;7 (11):860-72. doi: 10.1038/nrn2007. PubMed PMID:17033682 .
  88. Chen, J, Rattner, A, Nathans, J. 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. Hum Mol Genet. 2006;15 (13):2146-56. doi: 10.1093/hmg/ddl138. PubMed PMID:16723373 .
  89. Tsunenari, T, Nathans, J, Yau, KW. Ca2+-activated Cl- current from human bestrophin-4 in excised membrane patches. J Gen Physiol. 2006;127 (6):749-54. doi: 10.1085/jgp.200609527. PubMed PMID:16702355 PubMed Central PMC2151534.
  90. Wang, Y, Guo, N, Nathans, J. The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells. J Neurosci. 2006;26 (8):2147-56. doi: 10.1523/JNEUROSCI.4698-05.2005. PubMed PMID:16495441 PubMed Central PMC6674805.
  91. Rattner, A, Nathans, J. An evolutionary perspective on the photoreceptor damage response. Am J Ophthalmol. 2006;141 (3):558-562. doi: 10.1016/j.ajo.2005.10.045. PubMed PMID:16490507 .
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  97. Rattner, A, Chen, J, Nathans, J. Proteolytic shedding of the extracellular domain of photoreceptor cadherin. Implications for outer segment assembly. J Biol Chem. 2004;279 (40):42202-10. doi: 10.1074/jbc.M407928200. PubMed PMID:15284225 .
  98. Guo, N, Hawkins, C, Nathans, J. Frizzled6 controls hair patterning in mice. Proc Natl Acad Sci U S A. 2004;101 (25):9277-81. doi: 10.1073/pnas.0402802101. PubMed PMID:15169958 PubMed Central PMC438967.
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  101. Luo, W, Williams, J, Smallwood, PM, Touchman, JW, Roman, LM, Nathans, J et al.. Proximal and distal sequences control UV cone pigment gene expression in transgenic zebrafish. J Biol Chem. 2004;279 (18):19286-93. doi: 10.1074/jbc.M400161200. PubMed PMID:14966125 .
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Search PubMed

Mary Armanios

  1. Davidson-Swinton, HR, Iyer, S, Kolchinski, A, Salem, JA, DeBoy, EA, Kilada, AG et al.. Lymphoid malignancy and clonality in the POT1-mediated long telomere syndrome. Blood. 2026;147 (19):2226-2237. doi: 10.1182/blood.2025031287. PubMed PMID:41564438 PubMed Central PMC13155964.
  2. Light, J, Schratz, KE, Nanegrungsunk, O, Rudnick, N, Armanios, M, Bressler, NM et al.. Adult-Onset Presentations of Retinopathy Associated With Short Telomere Syndromes. J Vitreoretin Dis. 2025;9 (3):357-361. doi: 10.1177/24741264251316324. PubMed PMID:39911301 PubMed Central PMC11791962.
  3. Shah, PD, Armanios, M. Viewpoint: Pre- and post-lung transplant considerations for patients with ultra-short telomere length. Eur Respir J. 2025;65 (3):. doi: 10.1183/13993003.01545-2024. PubMed PMID:39884762 PubMed Central PMC11883148.
  4. DeBoy, EA, Nicosia, AM, Liyanarachchi, S, Iyer, SS, Shah, MH, Ringel, MD et al.. Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype. Am J Hum Genet. 2024;111 (6):1114-1124. doi: 10.1016/j.ajhg.2024.04.006. PubMed PMID:38688277 PubMed Central PMC11179366.
  5. Armanios, M. Familial Clonal Hematopoiesis in a Long Telomere Syndrome. Reply. N Engl J Med. 2023;389 (16):1535-1536. doi: 10.1056/NEJMc2309139. PubMed PMID:37851888 .
  6. DeBoy, EA, Tassia, MG, Schratz, KE, Yan, SM, Cosner, ZL, McNally, EJ et al.. Familial Clonal Hematopoiesis in a Long Telomere Syndrome. N Engl J Med. 2023;388 (26):2422-2433. doi: 10.1056/NEJMoa2300503. PubMed PMID:37140166 PubMed Central PMC10501156.
  7. Schratz, KE, Flasch, DA, Atik, CC, Cosner, ZL, Blackford, AL, Yang, W et al.. T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers. Cancer Cell. 2023;41 (4):807-817.e6. doi: 10.1016/j.ccell.2023.03.005. PubMed PMID:37037617 PubMed Central PMC10188244.
  8. Armanios, M. The Role of Telomeres in Human Disease. Annu Rev Genomics Hum Genet. 2022;23 :363-381. doi: 10.1146/annurev-genom-010422-091101. PubMed PMID:35609925 PubMed Central PMC10111244.
  9. Alder, JK, Armanios, M. Telomere-mediated lung disease. Physiol Rev. 2022;102 (4):1703-1720. doi: 10.1152/physrev.00046.2021. PubMed PMID:35532056 PubMed Central PMC9306791.
  10. Taub, MA, Conomos, MP, Keener, R, Iyer, KR, Weinstock, JS, Yanek, LR et al.. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. Cell Genom. 2022;2 (1):. doi: 10.1016/j.xgen.2021.100084. PubMed PMID:35530816 PubMed Central PMC9075703.
  11. Newton, CA, Oldham, JM, Applegate, C, Carmichael, N, Powell, K, Dilling, D et al.. The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group. Chest. 2022;162 (2):394-405. doi: 10.1016/j.chest.2022.03.023. PubMed PMID:35337808 PubMed Central PMC9424324.
  12. Vellanki, PJ, DeBoy, EA, Bawadkji, MM, Schuchter, L, Rooper, L, Mehra, R et al.. Ovarian Failure Preceding Head and Neck Squamous Cell Carcinoma Identifies an Adult-Onset Cancer-Prone Syndrome Caused by FANCM Mutations. JCO Precis Oncol. 2021;5 :. doi: 10.1200/PO.21.00110. PubMed PMID:34568721 PubMed Central PMC8457871.
  13. Schratz, KE, Gaysinskaya, V, Cosner, ZL, DeBoy, EA, Xiang, Z, Kasch-Semenza, L et al.. Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders. J Clin Invest. 2021;131 (18):. doi: 10.1172/JCI147598. PubMed PMID:34343137 PubMed Central PMC8439599.
  14. Oseini, AM, Hamilton, JP, Hammami, MB, Kim, A, Oshima, K, Woreta, T et al.. Liver Transplantation in Short Telomere-Mediated Hepatopulmonary Syndrome Following Bone Marrow Transplantation Using HCV Positive Allografts: A Case Series. Liver Transpl. 2021;27 (12):1844-1848. doi: 10.1002/lt.26109. PubMed PMID:34043865 PubMed Central PMC8626542.
  15. Cosner, Z, Armanios, M, Hacker-Prietz, A, Murphy, A, Narang, A. Anal Cancer as a First Presentation of a Germline Mutation in TERT. JCO Oncol Pract. 2021;17 (4):209-211. doi: 10.1200/OP.20.00763. PubMed PMID:33147109 .
  16. Gaysinskaya, V, Stanley, SE, Adam, S, Armanios, M. Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis. Chest. 2020;158 (6):2449-2457. doi: 10.1016/j.chest.2020.07.025. PubMed PMID:32710892 PubMed Central PMC7768939.
  17. Schratz, KE, Armanios, M. Cancer and myeloid clonal evolution in the short telomere syndromes. Curr Opin Genet Dev. 2020;60 :112-118. doi: 10.1016/j.gde.2020.02.019. PubMed PMID:32276199 PubMed Central PMC8122241.
  18. Schratz, KE, Haley, L, Danoff, SK, Blackford, AL, DeZern, AE, Gocke, CD et al.. Cancer spectrum and outcomes in the Mendelian short telomere syndromes. Blood. 2020;135 (22):1946-1956. doi: 10.1182/blood.2019003264. PubMed PMID:32076714 PubMed Central PMC7256360.
  19. Santa-Maria, CA, Coughlin, JW, Sharma, D, Armanios, M, Blackford, AL, Schreyer, C et al.. The Effects of a Remote-based Weight Loss Program on Adipocytokines, Metabolic Markers, and Telomere Length in Breast Cancer Survivors: the POWER-Remote Trial. Clin Cancer Res. 2020;26 (12):3024-3034. doi: 10.1158/1078-0432.CCR-19-2935. PubMed PMID:32071117 PubMed Central PMC7299780.
  20. Resar, LM, Jaffee, EM, Armanios, M, Jackson, S, Azad, NS, Horton, MR et al.. Equity and diversity in academic medicine: a perspective from the JCI editors. J Clin Invest. 2019;129 (10):3974-3977. doi: 10.1172/JCI130902. PubMed PMID:31524636 PubMed Central PMC6763240.
  21. Gable, DL, Gaysinskaya, V, Atik, CC, Talbot, CC Jr, Kang, B, Stanley, SE et al.. ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. Genes Dev. 2019;33 (19-20):1381-1396. doi: 10.1101/gad.326785.119. PubMed PMID:31488579 PubMed Central PMC6771387.
  22. McNally, EJ, Luncsford, PJ, Armanios, M. Long telomeres and cancer risk: the price of cellular immortality. J Clin Invest. 2019;129 (9):3474-3481. doi: 10.1172/JCI120851. PubMed PMID:31380804 PubMed Central PMC6715353.
  23. Lakota, K, Hanumanthu, VS, Agrawal, R, Carns, M, Armanios, M, Varga, J et al.. Short lymphocyte, but not granulocyte, telomere length in a subset of patients with systemic sclerosis. Ann Rheum Dis. 2019;78 (8):1142-1144. doi: 10.1136/annrheumdis-2018-214499. PubMed PMID:30679155 .
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  27. Armanios, M. Telomeres in the Clinic, Not on TV. Mayo Clin Proc. 2018;93 (7):815-817. doi: 10.1016/j.mayocp.2018.05.024. PubMed PMID:29976370 .
  28. Alder, JK, Hanumanthu, VS, Strong, MA, DeZern, AE, Stanley, SE, Takemoto, CM et al.. Diagnostic utility of telomere length testing in a hospital-based setting. Proc Natl Acad Sci U S A. 2018;115 (10):E2358-E2365. doi: 10.1073/pnas.1720427115. PubMed PMID:29463756 PubMed Central PMC5877993.
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  30. Parry, EM, Gable, DL, Stanley, SE, Khalil, SE, Antonescu, V, Florea, L et al.. Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma. J Thorac Oncol. 2017;12 (11):1673-1678. doi: 10.1016/j.jtho.2017.08.011. PubMed PMID:28843361 PubMed Central PMC5659909.
  31. Budinger, GRS, Kohanski, RA, Gan, W, Kobor, MS, Amaral, LA, Armanios, M et al.. The Intersection of Aging Biology and the Pathobiology of Lung Diseases: A Joint NHLBI/NIA Workshop. J Gerontol A Biol Sci Med Sci. 2017;72 (11):1492-1500. doi: 10.1093/gerona/glx090. PubMed PMID:28498894 PubMed Central PMC5861849.
  32. Lee, M, Roos, P, Sharma, N, Atalar, M, Evans, TA, Pellicore, MJ et al.. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites. Am J Hum Genet. 2017;100 (5):751-765. doi: 10.1016/j.ajhg.2017.04.001. PubMed PMID:28475858 PubMed Central PMC5420354.
  33. Stanley, SE, Merck, SJ, Armanios, M. Telomerase and the Genetics of Emphysema Susceptibility. Implications for Pathogenesis Paradigms and Patient Care. Ann Am Thorac Soc. 2016;13 Suppl 5 (Suppl 5):S447-S451. doi: 10.1513/AnnalsATS.201609-718AW. PubMed PMID:28005428 PubMed Central PMC5291473.
  34. Merck, SJ, Armanios, M. Shall we call them "telomere-mediated"? Renaming the idiopathic after the cause is found. Eur Respir J. 2016;48 (6):1556-1558. doi: 10.1183/13993003.02115-2016. PubMed PMID:27903687 .
  35. Bhatt, N, Ghosh, R, Roy, S, Gao, Y, Armanios, M, Cheng, L et al.. Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T). Stem Cell Res. 2016;17 (2):205-207. doi: 10.1016/j.scr.2016.08.003. PubMed PMID:27879207 .
  36. Bhatt, N, Ghosh, R, Roy, S, Gao, Y, Armanios, M, Cheng, L et al.. Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells. Stem Cell Res. 2016;17 (2):296-305. doi: 10.1016/j.scr.2016.08.006. PubMed PMID:27596957 .
  37. Stanley, SE, Gable, DL, Wagner, CL, Carlile, TM, Hanumanthu, VS, Podlevsky, JD et al.. Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema. Sci Transl Med. 2016;8 (351):351ra107. doi: 10.1126/scitranslmed.aaf7837. PubMed PMID:27510903 PubMed Central PMC5351811.
  38. Walter, JE, Armanios, M. Case 41-2015: A Boy with Immune and Liver Abnormalities. N Engl J Med. 2016;374 (22):2193. doi: 10.1056/NEJMc1601156. PubMed PMID:27248644 .
  39. DiNardo, CD, Bannon, SA, Routbort, M, Franklin, A, Mork, M, Armanios, M et al.. Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC). Clin Lymphoma Myeloma Leuk. 2016;16 (7):417-428.e2. doi: 10.1016/j.clml.2016.04.001. PubMed PMID:27210295 PubMed Central PMC4925265.
  40. You, J, Sobreira, NL, Gable, DL, Jurgens, J, Grange, DK, Belnap, N et al.. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. Am J Hum Genet. 2016;98 (5):909-918. doi: 10.1016/j.ajhg.2016.03.014. PubMed PMID:27132593 PubMed Central PMC4863664.
  41. Felgentreff, K, Baxi, SN, Lee, YN, Dobbs, K, Henderson, LA, Csomos, K et al.. Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. J Clin Immunol. 2016;36 (4):341-53. doi: 10.1007/s10875-016-0266-5. PubMed PMID:27063650 PubMed Central PMC4842108.
  42. Walter, JE, Armanios, M, Shah, U, Friedmann, AM, Spitzer, T, Sharatz, SM et al.. CASE RECORDS of the MASSACHUSETTS GENERAL HOSPITAL. Case 41-2015. A 14-Year-Old Boy with Immune and Liver Abnormalities. N Engl J Med. 2015;373 (27):2664-76. doi: 10.1056/NEJMcpc1408595. PubMed PMID:26716919 .
  43. Armanios, M, de Cabo, R, Mannick, J, Partridge, L, van Deursen, J, Villeda, S et al.. Translational strategies in aging and age-related disease. Nat Med. 2015;21 (12):1395-9. doi: 10.1038/nm.4004. PubMed PMID:26646495 PubMed Central PMC8785908.
  44. Stanley, SE, Rao, AD, Gable, DL, McGrath-Morrow, S, Armanios, M. Radiation Sensitivity and Radiation Necrosis in the Short Telomere Syndromes. Int J Radiat Oncol Biol Phys. 2015;93 (5):1115-7. doi: 10.1016/j.ijrobp.2015.08.048. PubMed PMID:26581148 PubMed Central PMC4708077.
  45. Armanios, M, Greider, CW. Treating Myeloproliferation--On Target or Off?. N Engl J Med. 2015;373 (10):965-6. doi: 10.1056/NEJMe1508740. PubMed PMID:26332552 .
  46. Stanley, SE, Armanios, M. The short and long telomere syndromes: paired paradigms for molecular medicine. Curr Opin Genet Dev. 2015;33 :1-9. doi: 10.1016/j.gde.2015.06.004. PubMed PMID:26232116 PubMed Central PMC4741306.
  47. Gorgy, AI, Jonassaint, NL, Stanley, SE, Koteish, A, DeZern, AE, Walter, JE et al.. Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders. Chest. 2015;148 (4):1019-1026. doi: 10.1378/chest.15-0825. PubMed PMID:26158642 PubMed Central PMC4594621.
  48. Alder, JK, Barkauskas, CE, Limjunyawong, N, Stanley, SE, Kembou, F, Tuder, RM et al.. Telomere dysfunction causes alveolar stem cell failure. Proc Natl Acad Sci U S A. 2015;112 (16):5099-104. doi: 10.1073/pnas.1504780112. PubMed PMID:25840590 PubMed Central PMC4413294.
  49. Stanley, SE, Noth, I, Armanios, M. What the genetics "RTEL"ing us about telomeres and pulmonary fibrosis. Am J Respir Crit Care Med. 2015;191 (6):608-10. doi: 10.1164/rccm.201501-0119ED. PubMed PMID:25767920 PubMed Central PMC4384782.
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  52. Stanley, SE, Armanios, M. Short telomeres: a repeat offender in IPF. Lancet Respir Med. 2014;2 (7):513-4. doi: 10.1016/S2213-2600(14)70140-7. PubMed PMID:24973280 .
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  54. Armanios, M. Reply: telomerase makes connections between pulmonary fibrosis and emphysema. Am J Respir Crit Care Med. 2014;189 (6):754-5. doi: 10.1164/rccm.201401-0019LE. PubMed PMID:24628320 PubMed Central PMC3983841.
  55. DeZern, AE, Symons, HJ, Resar, LS, Borowitz, MJ, Armanios, MY, Brodsky, RA et al.. Detection of paroxysmal nocturnal hemoglobinuria clones to exclude inherited bone marrow failure syndromes. Eur J Haematol. 2014;92 (6):467-70. doi: 10.1111/ejh.12299. PubMed PMID:24612308 PubMed Central PMC4161035.
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  58. Jonassaint, NL, Guo, N, Califano, JA, Montgomery, EA, Armanios, M. The gastrointestinal manifestations of telomere-mediated disease. Aging Cell. 2013;12 (2):319-23. doi: 10.1111/acel.12041. PubMed PMID:23279657 PubMed Central PMC3602337.
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