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SUPPLEMENTARY TABLE: References for candidate genes in Table 4.
S1. Fricke C, Lee JS, Geiger-Rudolph S, Bonhoeffer F, Chien CB: astray, a zebrafish
roundabout homolog required for retinal axon guidance. Science 292:507-510, 2001
S2. Makris M, Leach M, Beauchamp NJ, Daly ME, Cooper PC, Hampton KK, Bayliss P,
Peake IR, Miller GJ, Preston FE: Genetic analysis, phenotypic diagnosis, and risk of
venous thrombosis in families with inherited deficiencies of protein S. Blood 95:19351941, 2000
S3. Mintz-Hittner HA, Miyashiro MJ, Knight-Nanan DM, O'Malley RE, Marlar RA:
Vitreoretinal findings similar to retinopathy of prematurity in infants with compound
heterozygous protein S deficiency. Ophthalmology 106:1525-1530, 1999
S4. Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun
T, Casavant T, Stone EM, Sheffield VC: Comparative genomic analysis identifies an
ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J
Hum Genet 75:475-484, 2004
S5. Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano
JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS,
Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR: Mutations in a member of
the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat
Genet 36:989-993, 2004
S6. Kuehn MH, Stone EM, Hageman GS: Organization of the human IMPG2 gene and its
evaluation as a candidate gene in age-related macular degeneration and other retinal
degenerative disorders. Invest Ophthalmol Vis Sci 42:3123-3129, 2001
S7. Fuchsjäger-Mayrl G, Kautzky-Willer A, Kiss B, Roden M, Wagner O, Pleiner J, Wolzt
M, Schmetterer L: Ocular hyperperfusion following onset of intensified insulin therapy is
inversely correlated with plasma endothelin-1 in Type 1 diabetes. Diabetologia 45:883889, 2002
S8. Chauhan BC, LeVatte TL, Jollimore CA, Yu PK, Reitsamer HA, Kelly ME, Yu D-Y,
Tremblay F, Archibald ML: Model of endothelin-1-induced chronic optic neuropathy in
rat. Invest Ophthalmol Vis Sci 45:144-152, 2004
S9. Del Bene F, Tessmar-Raible K, Wittbrodt J: Direct interaction of geminin and Six3 in eye
development. Nature 427:687-688, 2004
S10. Kanazawa A, Tsukada S, Sekine A, Tsunoda T, Takahashi A, Kashigawi A, Tanaka Y,
Babazono T, Matsuda M, Kaku K, Iwamoto Y, Kawamori R, Kikkawa R, Nakamura Y,
Maeda S: Association of the gene encoding wingless-type mammary tumor virus
1
integration-site family member 5B (WNT5B) with type 2 diabetes. Am J Hum Genet
75:832-843, 2004
S11. 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 USA 94:3128-3133,
1997
S12. Hagstrom SA, North MA, Nishina PM, Berson EL, Dryja TP: Recessive mutations in the
gene encoding tubby-like protein TULP1 in patients with Retinitis pigmentosa. Nat Genet
18:174-176, 1998
S13. 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 54:215-220,
1998
S14. Siffert W, Rosskopf D, Siffert G, Busch S, Moritz A, Erbel R, Sharma AM, Ritz E,
Wichmann H-E, Jakobs KH, Horsthemke B: Association of a human G-protein β3
subunit variant with hypertension. Nat Genet 18:45-48, 1998
S15. Siffert W, Forster P, Jöckel K-H, Mvere DA, Brinkmann B, Naber C, Crookes R, Heyns
ADP, Epplen JT, Fridey J, Freedman BI, Müller N, Stolke D, Sharma AM, Al Moutaery
K, Grosse-Wilde H, Buerbaum B, Ehrlich T, Ahmad HR, Horsthemke B, Du Toit ED,
Tiilikainen A, Ge J, Wang Y, Yang D, Hüsing J, Rosskopf D: Worldwide ethnic
distribution of the G protein β3 subunit 825T allele and its association with obesity in
Caucasian, Chinese, and Black African individuals. J Am Soc Nephrol 10:1921-1930,
1999
S16. Wilson FH, Disse-Nicodème S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I,
Gunel M, Milford DV, Lipkin GW, Achard J-M, Feely MP, Dussol B, Berland Y, Unwin
RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP: Human hypertension
caused by mutations in WNK kinases. Science 293:1107-1112, 2001
S17. Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, Schild L, Lu
Y, Shimkets RA, Nelson-Williams C, Rossier BC, Lifton RP: Mutations in subunits of
the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis,
pseudohypoaldosteronism type 1. Nat Genet 12:248-253, 1996
S18. Iwai N, Baba S, Mannami T, Ogihara T, Ogata J: Association of a sodium channel alpha
subunit promoter variant with blood pressure. J Am Soc Nephrol 13:80-85, 2002
S19. Garkavtsev I, Kozin SV, Chernova O, Xu L, Winkler F, Brown E, Barnett GH, Jain RK:
The candidate tumour suppressor protein ING4 regulates brain tumour growth and
angiogenesis. Nature 428:328-332, 2004
2
S20. Ando K, Fujita T: Role of lectin-like oxidized low-density lipoprotein receptor-1 (LOX1) in the development of hypertensive organ damage. Clin Exp Nephrol 8:178-182, 2004
S21. Honjo M, Sawamura T, Hinagata J, Nakamura K, Sanada N, Tanihara H, Honda Y, Kiryu
J: Expression of LOX-1, an oxidized low-density lipoprotein receptor, in choroidal
neovascularization. Arch Ophthalmol 122:1873-1876, 2004
S22. Kondo T, Vicent D, Suzuma K, Yanagisawa M, King GL, Holzenberger M, Kahn CR:
Knockout of insulin and IGF-1 receptors on vascular endothelial cells protects against
retinal neovascularization. J Clin Invest 111:1835-1842, 2003
S23. Monnier PP, Sierra A, Macchi P, Deitinghoff L, Andersen JS, Mann M, Flad M,
Hornberger MR, Stahl B, Bonhoeffer F, Mueller BK: RGM is a repulsive guidance
molecule for retinal axons. Nature 419:392-395, 2002
S24. You LR, Lin FJ, Lee CT, DeMayo FJ, Tsai MJ, Tsai SY: Suppression of Notch signalling
by the COUP-TFII transcription factor regulates vein identity. Nature 435:98-104, 2005
S25. Wang L, Fan C, Topol SE, Topol EJ, Wang Q: Mutation of MEF2A is an inherited
disorder with features of coronary artery disease. Science 302:1578-1581, 2003
S26. Field LL, Tobias R, Magnus T: A locus on chromosome 15q26 (IDDM3) produces
susceptibility to insulin-dependent diabetes mellitus. Nat Genet 8:189-194, 1994
S27. Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, AlMaghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS:
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal
dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 8:375-381,
2001
S28. Mitton KP, Swain PK, Khanna H, Dowd M, Apel IJ, Swaroop A: Interaction of retinal
bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible
role of Fiz1 as a transcriptional repressor. Hum Mol Genet 12:365-373, 2003
S29. Priglinger SG, May CA, Neubauer AS, Alge CS, Schonfield CL, Kampik A, WelgeLussen U: Tissue transglutaminase as a modifying enzyme of the extracellular matrix in
PVR membranes. Invest Ophthalmol Vis Sci 44:355-364, 2003
S30. Salinas M, Duprat F, Heurteaux C, Hugnot JP, Lazdunski M: New modulatory α subunits
for mammalian Shab K+ channels. J Biol Chem 272:24371-24379, 1997
S31. Fajas L, Landsberg RL, Huss-Garcia Y, Sardet C, Lees JA, Auwerx J: E2Fs regulate
adipocyte differentiation. Dev Cell 3:39-49, 2002
3
S32. Voisey J, Imbeault P, Hutley L, Prins JB, van Daal A: Body mass index-related human
adipocyte agouti expression is sex-specific, but not depot-specific. Obesity Res 10:447452, 2002
S33. Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S,
Stoffel M, Bell GI: Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset
diabetes of the young (MODY-1). Nature 384:458-460, 1996
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