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The roles of the nuclear pore complex in cellular dysfunction, aging and disease.

Sakuma S, D'Angelo MA.

Semin Cell Dev Biol. 2017 Aug;68:72-84. doi: 10.1016/j.semcdb.2017.05.006. Epub 2017 May 12. Review.


Ophthalmic Manifestations of Amyotrophic Lateral Sclerosis (An American Ophthalmological Society Thesis).

Volpe NJ, Simonett J, Fawzi AA, Siddique T.

Trans Am Ophthalmol Soc. 2015;113:T12.


Molecular Characterization and Functional Analysis of Annulate Lamellae Pore Complexes in Nuclear Transport in Mammalian Cells.

Raghunayakula S, Subramonian D, Dasso M, Kumar R, Zhang XD.

PLoS One. 2015 Dec 7;10(12):e0144508. doi: 10.1371/journal.pone.0144508. eCollection 2015.


Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.

Li W, Gong C, Qi Z, Wu DI, Cao B.

Exp Ther Med. 2015 Oct;10(4):1277-1282. Epub 2015 Aug 10.


The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.

Carvalhal S, Ribeiro SA, Arocena M, Kasciukovic T, Temme A, Koehler K, Huebner A, Griffis ER.

Mol Biol Cell. 2015 Oct 1;26(19):3424-38. doi: 10.1091/mbc.E15-02-0113. Epub 2015 Aug 5.


Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.

Jühlen R, Idkowiak J, Taylor AE, Kind B, Arlt W, Huebner A, Koehler K.

PLoS One. 2015 Apr 13;10(4):e0124582. doi: 10.1371/journal.pone.0124582. eCollection 2015.


Dysphagia in a patient with Addison's disease.

Kapoor N, Shetty S, Shetty S, Paul TV.

BMJ Case Rep. 2014 Jun 30;2014. pii: bcr2014203672. doi: 10.1136/bcr-2014-203672. No abstract available.


A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A Syndrome.

Huynh T, McGown I, Nyunt O, Cowley D, Harris M, Cotterill AM, Leong GM.

Clin Pediatr Endocrinol. 2009;18(2):73-5. doi: 10.1297/cpe.18.73. Epub 2009 May 1. No abstract available.


A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene.

Ikemoto S, Sakurai K, Kuwashima N, Saito Y, Miyata I, Katsumata N, Ida H.

Clin Pediatr Endocrinol. 2012 Jan;21(1):11-3. doi: 10.1297/cpe.21.11. Epub 2012 Feb 8. No abstract available.


Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.

Prasad R, Metherell LA, Clark AJ, Storr HL.

Endocrinology. 2013 Sep;154(9):3209-18. doi: 10.1210/en.2013-1241. Epub 2013 Jul 3.


Triple A (Allgrove) syndrome: an unusual association with syringomyelia.

Bizzarri C, Benevento D, Terzi C, Huebner A, Cappa M.

Ital J Pediatr. 2013 Jun 24;39:39. doi: 10.1186/1824-7288-39-39.


Cell type-specific nuclear pores: a case in point for context-dependent stoichiometry of molecular machines.

Ori A, Banterle N, Iskar M, Andrés-Pons A, Escher C, Khanh Bui H, Sparks L, Solis-Mezarino V, Rinner O, Bork P, Lemke EA, Beck M.

Mol Syst Biol. 2013;9:648. doi: 10.1038/msb.2013.4.


Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos.

Zheng X, Yang S, Han Y, Zhao X, Zhao L, Tian T, Tong J, Xu P, Xiong C, Meng A.

J Biol Chem. 2012 Nov 2;287(45):38254-64. doi: 10.1074/jbc.M112.408997. Epub 2012 Sep 10.


A change in nuclear pore complex composition regulates cell differentiation.

D'Angelo MA, Gomez-Cavazos JS, Mei A, Lackner DH, Hetzer MW.

Dev Cell. 2012 Feb 14;22(2):446-58. doi: 10.1016/j.devcel.2011.11.021. Epub 2012 Jan 19.


The functions of the nuclear envelope in mediating the molecular crosstalk between the nucleus and the cytoplasm.

Shimi T, Butin-Israeli V, Goldman RD.

Curr Opin Cell Biol. 2012 Feb;24(1):71-8. doi: 10.1016/ Epub 2011 Dec 20. Review.


The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders.

Miller WL, Auchus RJ.

Endocr Rev. 2011 Feb;32(1):81-151. doi: 10.1210/er.2010-0013. Epub 2010 Nov 4. Review. Erratum in: Endocr Rev. 2011 Aug;32(4):579.


Diseases of the nuclear envelope.

Worman HJ, Ostlund C, Wang Y.

Cold Spring Harb Perspect Biol. 2010 Feb;2(2):a000760. doi: 10.1101/cshperspect.a000760. Review.


Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.

Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJ.

Mol Endocrinol. 2009 Dec;23(12):2086-94. doi: 10.1210/me.2009-0056. Epub 2009 Oct 23.


The role of nuclear pores in gene regulation, development and disease.

Capelson M, Hetzer MW.

EMBO Rep. 2009 Jul;10(7):697-705. doi: 10.1038/embor.2009.147. Epub 2009 Jun 19. Review. Erratum in: EMBO Rep. 2009 Aug;10(8):934.


Evidence for a shared nuclear pore complex architecture that is conserved from the last common eukaryotic ancestor.

DeGrasse JA, DuBois KN, Devos D, Siegel TN, Sali A, Field MC, Rout MP, Chait BT.

Mol Cell Proteomics. 2009 Sep;8(9):2119-30. doi: 10.1074/mcp.M900038-MCP200. Epub 2009 Jun 13.

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