| 1 | CSNB1B, GRM6
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| Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.
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| Scalabrino ML, Boye SL, Fransen KM, Noel JM, Dyka FM, Min SH, Ruan Q, De Leeuw CN, Simpson EM, Gregg RG, McCall MA, Peachey NS, Boye SE.
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| Hum Mol Genet 24(21):6229-39. doi: 10.1093/hmg/ddv341. Epub 2015 Aug 26.
2015
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| 2 | CSNB1B, GRM6
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| Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.
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| Qian H, Ji R, Gregg RG, Peachey NS.
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| Vis Neurosci 32:E004. doi: 10.1017/S0952523815000012.
2015
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| 3 | CSNB1A, CSNB1B, CSNB1C, CSNB1E, CSNB2A, CSNB2B, GPR179, RCD4
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| Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.
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| Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C.
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| Am J Hum Genet 90(2):321-30. 2012
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| 4 | CSNB1B, TRPM1
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| TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
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| Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.
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| Am J Hum Genet 85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5.
2009
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| 5 | CSNB1B, GRM6
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| Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses.
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| Maddox DM, Vessey KA, Yarbrough GL, Invergo BM, Cantrell DR, Inayat S, Balannik V, Hicks WL, Hawes NL, Byers S, Smith RS, Hurd R, Howell D, Gregg RG, Chang B, Naggert JK, Troy JB, Pinto LH, Nishina PM, McCall MA.
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| J Physiol 586(18):4409-24. doi: 10.1113/jphysiol.2008.157289. Epub 2008 Aug 7.
2008
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| 6 | CSNB1B, GRM6
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| Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
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| Zeitz C, Forster U, Neidhardt J, Feil S, Kalin S, Leifert D, Flor PJ, Berger W.
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| Hum Mutat 28(8):771-80. 2007
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| 7 | ACHM2, ACHM3, ACHM4, CABP4, CACNA1F, CNGA3, CNGB3, CRSD, CSNB10, CSNB1A, CSNB1B, CSNB2A, CSNB2B, ESCS, GNAT2, GRM6, NR2E3, NYX
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| Molecular genetics of infantile-onset retinal dystrophies.
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| Moradi P, Moore AT.
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| Eye 21(10):1344-51. 2007
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| 8 | CSNB1B, GRM6
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| Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6.
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| O'Connor E, Allen LE, Bradshaw K, Boylan J, Moore AT, Trump D.
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| Br J Ophthalmol 90(5):653-4. No abstract available. 2006
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| 9 | CSNB1B, GRM6
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| Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
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| Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS.
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| Proc Natl Acad Sci U S A 102(13):4884-9. Epub 2005 Mar 21. 2005
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| 10 | CSNB1B, GRM6
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| Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
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| Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Matyas G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W.
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| Invest Ophthalmol Vis Sci 46(11):4328-35. 2005
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