Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 113

1.

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.

Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG.

Am J Hum Genet. 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006.

2.

Presence of the Gpr179(nob5) allele in a C3H-derived transgenic mouse.

Balmer J, Ji R, Ray TA, Selber F, Gassmann M, Peachey NS, Gregg RG, Enzmann V.

Mol Vis. 2013 Dec 31;19:2615-25. eCollection 2013.

3.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

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.

Am J Hum Genet. 2012 Feb 10;90(2):321-30. doi: 10.1016/j.ajhg.2011.12.007. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209.

4.

Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.

Orhan E, Prézeau L, El Shamieh S, Bujakowska KM, Michiels C, Zagar Y, Vol C, Bhattacharya SS, Sahel JA, Sennlaub F, Audo I, Zeitz C.

Invest Ophthalmol Vis Sci. 2013 Dec 9;54(13):8041-50. doi: 10.1167/iovs.13-12610.

PMID:
24222301
5.

Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.

Klooster J, van Genderen MM, Yu M, Florijn RJ, Riemslag FC, Bergen AA, Gregg RG, Peachey NS, Kamermans M.

Invest Ophthalmol Vis Sci. 2013 Oct 23;54(10):6973-81. doi: 10.1167/iovs.13-12293.

6.

GPR179 is required for high sensitivity of the mGluR6 signaling cascade in depolarizing bipolar cells.

Ray TA, Heath KM, Hasan N, Noel JM, Samuels IS, Martemyanov KA, Peachey NS, McCall MA, Gregg RG.

J Neurosci. 2014 Apr 30;34(18):6334-43. doi: 10.1523/JNEUROSCI.4044-13.2014.

7.

Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.

Qian H, Ji R, Gregg RG, Peachey NS.

Vis Neurosci. 2015 Jan;32:E004. doi: 10.1017/S0952523815000012.

8.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I.

Am J Hum Genet. 2013 Jan 10;92(1):67-75. doi: 10.1016/j.ajhg.2012.10.023. Epub 2012 Dec 13.

9.

Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

Malaichamy S, Sen P, Sachidanandam R, Arokiasamy T, Lancelot ME, Audo I, Zeitz C, Soumittra N.

Mol Vis. 2014 Mar 21;20:341-51. eCollection 2014. Erratum in: Mol Vis. 2014;20:780.

10.

Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.

Peachey NS, Pearring JN, Bojang P Jr, Hirschtritt ME, Sturgill-Short G, Ray TA, Furukawa T, Koike C, Goldberg AF, Shen Y, McCall MA, Nawy S, Nishina PM, Gregg RG.

J Neurophysiol. 2012 Nov;108(9):2442-51. doi: 10.1152/jn.00137.2012. Epub 2012 Aug 15.

11.

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W.

Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35.

PMID:
16249515
12.

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.

Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR.

Acta Ophthalmol. 2012 May;90(3):e192-7. doi: 10.1111/j.1755-3768.2011.02267.x. Epub 2011 Oct 19.

13.

A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.

Kondo M, Das G, Imai R, Santana E, Nakashita T, Imawaka M, Ueda K, Ohtsuka H, Sakai K, Aihara T, Kato K, Sugimoto M, Ueno S, Nishizawa Y, Aguirre GD, Miyadera K.

PLoS One. 2015 Sep 14;10(9):e0137072. doi: 10.1371/journal.pone.0137072. eCollection 2015.

14.

Differentiation of murine models of "negative ERG" by single and repetitive light stimuli.

Tanimoto N, Akula JD, Fulton AB, Weber BH, Seeliger MW.

Doc Ophthalmol. 2016 Apr;132(2):101-9. doi: 10.1007/s10633-016-9534-1. Epub 2016 Mar 21.

PMID:
26996188
15.

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.

Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25.

PMID:
23714322
16.

Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness.

Gregg RG, Kamermans M, Klooster J, Lukasiewicz PD, Peachey NS, Vessey KA, McCall MA.

J Neurophysiol. 2007 Nov;98(5):3023-33. Epub 2007 Sep 19.

17.

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.

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.

Hum Mol Genet. 2015 Nov 1;24(21):6229-39. doi: 10.1093/hmg/ddv341. Epub 2015 Aug 26.

18.

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

Neuillé M, El Shamieh S, Orhan E, Michiels C, Antonio A, Lancelot ME, Condroyer C, Bujakowska K, Poch O, Sahel JA, Audo I, Zeitz C.

PLoS One. 2014 Mar 5;9(3):e90342. doi: 10.1371/journal.pone.0090342. eCollection 2014.

19.

Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C.

Clin Genet. 2016 Jun;89(6):690-9. doi: 10.1111/cge.12746. Epub 2016 Mar 4.

PMID:
26822852
20.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E.

Am J Hum Genet. 2016 May 5;98(5):1011-9. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7.

Supplemental Content

Support Center