| 1 | ARRP2, PDE6B
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| Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
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| Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S.
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| Int J Mol Sci. Feb 27;22(5):2374. doi: 10.3390/ijms22052374. 2021
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| 2 | PDE6B
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| Rod Photoreceptor Neuroprotection in Dark-Reared Pde6brd10 Mice. PMID:
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| Berkowitz BA, Podolsky RH, Childers KL, Roche SL, Cotter TG, Graffice E, Harp L, Sinan K, Berri AM, Schneider M, Qian H, Gao S, Roberts R.
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| Invest Ophthalmol Vis Sci. 2020 Nov 2;61(13):14. doi: 10.1167/iovs.61.13.14 2020
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| 3 | PDE6B
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| Development of a Pde6b Gene Knockout Rat Model for Studies of Degenerative Retinal Diseases
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| Yeo JH, Jung BK, Lee H, Baek IJ, Sung YH, Shin HS, Kim HK, Seo KY, Lee JY.
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| Invest Ophthalmol Vis Sci. Apr 1;60(5):1519-1526. doi: 10.1167/iovs.18-25556. 2019
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| 4 | PDE6A, PDE6B
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| Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa
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| Takahashi VKL, Takiuti JT, Jauregui R, Lima LH, Tsang SH.
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| Ophthalmic Genet. Oct;39(5):610-614. doi: 10.1080/13816810.2018.1509354. Epub 2018 Aug 28. 2018
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| 5 | PDE6A, PDE6B, PDE6C, PDE6G, PDE6H
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| Evolution and expression of the phosphodiesterase 6 genes unveils vertebrate novelty to control photosensitivity
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| Lagman D, Franzén IE, Eggert J, Larhammar D, Abalo XM.
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| BMC Evol Biol. Jun 13;16(1):124. doi: 10.1186/s12862-016-0695-z. 2016
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| 6 | ARRP2, PDE6B
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| Novel mutations in PDE6B causing human retinitis pigmentosa.
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| Cheng LL, Han RY, Yang FY, Yu XP, Xu JL, Min QJ, Tian J, Ge XL, Zheng SS, Lin YW, Zheng YH, Qu J, Gu F.
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| Int J Ophthalmol Aug 18;9(8):1094-9. doi: 10.18240/ijo.2016.08.02. 2016
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| 7 | PDE6B
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| Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing
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| Muradov H, Boyd KK, Kerov V, Artemyev NO
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| Vision Res. Mar 15;57:1-8. doi: 10.1016/j.visres.2012.01.017. Epub 2012 Feb 4 2012
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| 8 | PDE6A, PDE6B
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| Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
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| Muradov H, Boyd KK, Artemyev NO.
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| J Biol Chem 285(51):39828-34. Epub 2010 Oct 12.
2010
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| 9 | ADGRV1, PDE6B
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| Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.
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| Hmani-Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, Ghorbel A, Rebaï A, Söderkvist P, Riazuddin S, Kimberling WJ, Ayadi H.
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| Eur J Hum Genet 17(4):474-82. Epub 2008 Oct 15. 2009
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| 10 | PDE6B
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| Regulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene.
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| Verardo MR, Viczian A, Piri N, Akhmedov NB, Knox BE, Farber DB.
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| Invest Ophthalmol Vis Sci 50(6):2591-8. Epub 2009 Feb 14.
2009
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| 11 | PDE6A, PDE6B, PDE6G
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| Direct allosteric regulation between the GAF domain and catalytic domain of photoreceptor phosphodiesterase PDE6.
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| Zhang XJ, Cahill KB, Elfenbein A, Arshavsky VY, Cote RH.
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| J Biol Chem 283(44):29699-705. Epub 2008 Sep 8.
2008
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| 12 | CRX, FIZ1, NRL, PDE6B
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| FIZ1 is expressed during photoreceptor maturation, and synergizes with NRL and CRX at rod-specific promoters in vitro.
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| Mali RS, Zhang X, Hoerauf W, Doyle D, Devitt J, Loffreda-Wren J, Mitton KP.
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| Exp Eye Res 84(2):349-60. Epub 2006 Dec 4.
2007
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| 13 | CSNB3, PDE6B
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| Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness
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| Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S.
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| Hum Mutat. Mar;28(3):243-54. doi: 10.1002/humu.20425. 2007
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| 14 | PDE6B
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| Genotype-phenotype correlation of mouse pde6b mutations.
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| Hart AW, McKie L, Morgan JE, Gautier P, West K, Jackson IJ, Cross SH.
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| Invest Ophthalmol Vis Sci 46(9):3443-50. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5170.
2005
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| 15 | ARRP2, PDE6A, PDE6B, RP43
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| Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
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| Dryja TP, et al.
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| Invest Ophthalmol Vis Sci 40(8):1859-65 1999
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| 16 | ARRP2, PDE6B
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| Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene.
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| Piriev NI, et al.
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| Invest Ophthalmol Vis Sci 39 : 463-470. 1998
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| 17 | ARRP2, PDE6B
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| A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.
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| Valverde D, et al.
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| Hum Genet 97 : 35-38. 1996
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| 18 | ARRP2, PDE6B
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| Identification of a novel R552Q mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
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| Valverde D, et al.
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| Hum Mutat 8 : 393. 1996
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| 19 | ARRP2, PDE6B
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| Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa.
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| Danciger M, et al.
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| Genomics 30 : 1-7. 1995
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| 20 | ARRP2, PDE6B
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| Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.
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| Bays M, et al.
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| Hum Mutat 5 : 228-234. 1995
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| 21 | ARRP2, PDE6B
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| Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
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| McLaughlin ME, et al.
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| Proc Natl Acad Sci U S A 92 : 3249-3253. 1995
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| 22 | CSNB3, PDE6B
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| Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
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| Gal A, et al.
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| Nat Genet 7 : 64-68. 1994
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| 23 | ARRP2, PDE6B
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| Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
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| McLaughlin ME, et al.
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| Nat Genet 4 : 130-133. 1993
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| 24 | D4S227, PDE6B
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| (CA)n-dinucleotide repeat at the PDEB locus in 4p16.3.
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| Weber B, et al.
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| Hum Mol Genet 2 : 827. 1993
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| 25 | PDE6B
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| The human rod photoreceptor cGMP phosphodiesterase beta-subunit. Structural studies of its cDNA and gene.
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| Khramtsov NV, et al.
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| FEBS Lett 327 : 275-278. 1993
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| 26 | PDE6B
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| Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16.
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| Bateman JB, et al.
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| Genomics 12 : 601-603. 1992
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| 27 | PDE6B
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| Chromosome mapping of the rod photoreceptor cGMP phosphodiesterase beta-subunit gene in mouse and human : tight linkage to the Huntington disease region (4p16.3).
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| Altherr MR, et al.
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| Genomics 12 : 750-754. 1992
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| 28 | HTT, PDE6B
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| Exclusion of DNA changes in the beta-subunit of the c-GMP phosphodiesterase gene as the cause for Huntington's disease.
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| Riess O, et al.
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| Nat Genet 1 : 104-108. 1992
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| 29 | PDE6B
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| The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa.
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| Riess O, et al.
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| Am J Hum Genet 51 : 755-762. 1992
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| 30 | PDE6B
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| Genomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3.
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| Weber B, et al.
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| Nucleic Acids Res 19 : 6263-6268. 1991
|