Congenital ectropion uvea and mechanisms of glaucoma in neurofibromatosis type 1:: New insights

Ophthalmology

Volumn 119, Issue 7, 2012, Pages 1485-1494

  Edward, Deepak P ^a,b,c   Morales, Jose ^b   Bouhenni, Rachida A ^a   Patil, Jayaprakash ^a   Edward, Priya R ^a   Cummings, Thomas J ^d   Chaudhry, Imtiaz A ^b   Alkatan, Hind ^b  

^a SUMMA HEALTH SYSTEM   (United States)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FORMALDEHYDE; GLIAL FIBRILLARY ACIDIC PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; PARAFFIN; VIMENTIN;

ADOLESCENT; ANTERIOR EYE CHAMBER; ANTIBODY LABELING; ARTICLE; BUPHTHALMOS; CHILD; CHILDHOOD DISEASE; CILIARY BODY; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORNEA ENDOTHELIUM; DISEASE ASSOCIATION; ECTROPION; ELECTRON MICROSCOPY; ENUCLEATION; EYEBANK; FEMALE; GENE EXPRESSION; GLAUCOMA; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MALE; NEUROFIBROMA; NEUROFIBROMATOSIS; PATHOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHLEMM CANAL; SCHOOL CHILD; SIGNAL TRANSDUCTION; UPREGULATION; UVEA DISEASE;

ADOLESCENT; ANTERIOR EYE SEGMENT; ENDOTHELIUM, CORNEAL; EYE ENUCLEATION; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GLAUCOMA, ANGLE-CLOSURE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; INFANT, NEWBORN; IRIS DISEASES; MALE; MITOGEN-ACTIVATED PROTEIN KINASES; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PIGMENT EPITHELIUM OF EYE; REAL-TIME POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; VIMENTIN;

EID: 84863307620     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2012.01.027     Document Type: Article

References (23)

1. V.M. Riccardi Neurofibromatosis: past, present, and future N Engl J Med 324 1991 1283 1285
2. S.A. Rasmussen, J.M. Friedman NF1 gene and neurofibromatosis 1 Am J Epidemiol 151 2000 33 40
3. D. Viskochil, A.M. Buchberg, G. Xu Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus Cell 62 1990 187 192
4. A.G. Menon, K.M. Anderson, V.M. Riccardi Chromosome 17p deletions and p53 gene mutations associated with the formation of malignant neurofibrosarcomas in von Recklinghausen neurofibromatosis Proc Natl Acad Sci U S A 87 1990 5435 5439
5. J. Morales, I.A. Chaudhry, T.M. Bosley Glaucoma and globe enlargement associated with neurofibromatosis type 1 Ophthalmology 116 2009 1725 1730
6. J.S. Weiss, R. Ritch Glaucoma in the phakomatoses R. Ritch, M. Shields, T. Krupin, 2nd ed. The Glaucomas vol. 2 1996 Mosby St. Louis, MO 899 924
7. J. Francois, C. Katz Homolateral association of hydrophthalmia, plexiform neuroma of the upper lid and facial hemihypertrophy in Recklinghausen's disease [in French] Ophthalmologica 142 1961 549 571
8. S. Brownstein, J.M. Little Ocular neurofibromatosis Ophthalmology 90 1983 1595 1599
9. R. Ritch, M. Forbes, J. Hetherington Jr Congenital ectropion uveae with glaucoma Ophthalmology 91 1984 326 331
10. S. Snell, E.T. Collins Plexiform neuroma (elephantiasis neuromatosis) of temporal region, orbit, eyelid and eyeball: notes of three cases Trans Ophthal Soc U K 23 1903 157 177
11. M.W. Pfaffl A new mathematical model for relative quantification in real-time RT-PCR [report online] Nucleic Acids Res 29 2001 e45 http://nar.oxfordjournals.org/content/29/9/e45.full.pdf+html Accessed December 23, 2011
12. U.R. Rapp, J. Fensterle, S. Albert, R. Gotz Raf kinases in lung tumor development Adv Enzyme Regul 43 2003 183 195
13. D. Woods, D. Parry, H. Cherwinski Raf-induced proliferation or cell cycle arrest is determined by the level of Raf activity with arrest mediated by p21Cip1 Mol Cell Biol 17 1997 5598 5611
14. N. Rhodes, C.L. Innes, F. Propst, R.S. Paules Serum starved v-mos-transformed cells are unable to appropriately downregulate cyclins and CDKs Oncogene 14 1997 3017 3027
15. M. Kohler, T. Bauknecht, M. Grimm Epidermal growth factor receptor and transforming growth factor alpha expression in human ovarian carcinomas Eur J Cancer 28A 1992 1432 1437
16. T. Bauknecht, M. Kiechle, G. Bauer, J.W. Siebers Characterization of growth factors in human ovarian carcinomas Cancer Res 46 1986 2614 2618
17. P.J. Harasymowycz, D.G. Papamatheakis, R.C. Eagle Jr, R.P. Wilson Congenital ectropion uveae and glaucoma Arch Ophthalmol 124 2006 271 273
18. J.L. Dowling Jr, D.M. Albert, L.B. Nelson, D.S. Walton Primary glaucoma associated with iridotrabecular dysgenesis and ectropion uveae Ophthalmology 92 1985 912 921
19. T.N. Basu, D.H. Gutmann, J.A. Fletcher Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients Nature 356 1992 713 715
20. J.E. DeClue, A.G. Papageorge, J.A. Fletcher Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis Cell 69 1992 265 273
21. H.A. Kim, T. Rosenbaum, M.A. Marchionni Schwann cells from neurofibromin deficient mice exhibit activation of p21ras, inhibition of cell proliferation and morphological changes Oncogene 11 1995 325 335
22. R.R. Mattingly, J.M. Kraniak, J.T. Dilworth The mitogen-activated protein kinase/extracellular signal-regulated kinase kinase inhibitor PD184352 (CI-1040) selectively induces apoptosis in malignant schwannoma cell lines J Pharmacol Exp Ther 316 2006 456 465
23. J.D. Gottsch, G.D. Seitzman, E.H. Margulies Gene expression in donor corneal endothelium Arch Ophthalmol 121 2003 252 258