| Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients. | Complete congenital stationary night blindness associated with a novel NYX variant (p.Asn216Lys) in middle-aged and older adult patients.
Hayashi T, Murakami Y, Mizobuchi K, Koyanagi Y, Sonoda KH, Nakano T. | 01/29/2022 |
| NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism. | NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.
Scanga HL, Liasis A, Pihlblad MS, Nischal KK. | 01/29/2022 |
| Frameshift mutation in NYX gene is associated with congenital stationary night blindness. | Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.
Ivanova ME, Zolnikova IV, Gorgisheli KV, Atarshchikov DS, Ghosh P, Barh D. | 07/11/2020 |
| Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness were described. | Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.
Dai S, Ying M, Wang K, Wang L, Han R, Hao P, Li N., Free PMC Article | 08/6/2016 |
| Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. | NYX mutations in four families with high myopia with or without CSNB1.
Zhou L, Li T, Song X, Li Y, Li H, Dan H., Free PMC Article | 09/12/2015 |
| Loss of ERG amplitude and apparent ON-pathway dysfunction at high temporal frequencies distinguish this patient with a Trp237Ter NYX mutation from those with other previously reported NYX mutations. | Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation.
McAnany JJ, Alexander KR, Kumar NM, Ying H, Anastasakis A, Fishman GA., Free PMC Article | 03/15/2014 |
| A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. | A novel missense mutation in the NYX gene associated with high myopia.
Yip SP, Li CC, Yiu WC, Hung WH, Lam WW, Lai MC, Ng PW, Fung WY, Chu PH, Jiang B, Chan HH, Yap MK. | 11/23/2013 |
| A mutation was identified in NYX in 20 male patients with Congenital Stationary Night Blindness 1. | 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. | 11/23/2013 |
| The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB). | Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
Wang Q, Gao Y, Li S, Guo X, Zhang Q. | 11/17/2012 |
| A proteomic search for proteins associated with nyctalopin in the retina identified TRPM1 as the binding partner and nyctalopin additionally interacts with mGluR6 receptor. | TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.
Cao Y, Posokhova E, Martemyanov KA., Free PMC Article | 10/8/2011 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| The c.855delG deletion in NYX seems to be a common mutation associated with CSNB in the Flemish population from Belgium. | A common NYX mutation in Flemish patients with X linked CSNB.
Leroy BP, Budde BS, Wittmer M, De Baere E, Berger W, Zeitz C. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Mutations in NYX of individuals with high myopia, but without night blindness.
Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF, Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF., Free PMC Articles: PMC2642916, PMC2642916 | 03/13/2008 |
| Results support a role for nyctalopin in synaptic transmission and/or synapse formation at ribbon synapses in the retina. | Localization of nyctalopin in the mammalian retina.
Morgans CW, Ren G, Akileswaran L. | 01/21/2010 |
| The results implicated a specific on-pathway signaling deficiency in CSNB1-NYX males with no evidence of off-pathway involvement. Likewise, rapid-on/off ramping stimuli also indicated that the functional deficit was localized to the on pathway. | Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness.
Khan NW, Kondo M, Hiriyanna KT, Jamison JA, Bush RA, Sieving PA. | 01/21/2010 |
| Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. | Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
Jacobi FK, Andréasson S, Langrova H, Meindl A, Zrenner E, Apfelstedt-Sylla E, Pusch CM. | 01/21/2010 |
| X-linked congenital night blindness mutations are reported in Chinese males in two families. | CSNB1 in Chinese families associated with novel mutations in NYX.
Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q, Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q. | 01/21/2010 |
| Mutations in NYX may cause high myopia without congenital stationary night blindness. | Mutations in NYX of individuals with high myopia, but without night blindness.
Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF, Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF., Free PMC Articles: PMC2642916, PMC2642916 | 01/21/2010 |
| Seven in-frame deletion, splicing, missense, nonsense, and frameshift mutations were identified segregating with X-linked congenital stationary night blindness in the NYX gene. | Mutations in the CACNA1F and NYX genes in British CSNBX families.
Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. | 01/21/2010 |
| Human and mouse nyctalopin are membrane-bound extracellular proteins and are functionally conserved. | NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.
Zeitz C, Scherthan H, Freier S, Feil S, Suckow V, Schweiger S, Berger W. | 01/21/2010 |
| In a pool of eight diagnosed XLCSNB (X-linked congenital stationary night blindness) patients, five showed a sequence variation in the CACNA1F and two in the NYX gene. | Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W. | 01/21/2010 |
| The nob (no b-wave) mouse model of CSNB1 (complete form of human X-linked congenital stationary night blindness) involves an 85-bp deletion in the nyx gene. | Identification of the gene and the mutation responsible for the mouse nob phenotype.
Gregg RG, Mukhopadhyay S, Candille SI, Ball SL, Pardue MT, McCall MA, Peachey NS. | 01/4/2007 |
| Novel mutations of NYX were identified in two Chinese families with CSNB1 and myopia. | CSNB1 in Chinese families associated with novel mutations in NYX.
Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q, Xiao X, Jia X, Guo X, Li S, Yang Z, Zhang Q. | 05/12/2006 |