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Year Number of Results
2010 1
2014 2
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2020 2
2021 5
2022 1
2023 1

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12 results

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Page 1
Cav1.4 dysfunction and congenital stationary night blindness type 2.
Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L. Koschak A, et al. Pflugers Arch. 2021 Sep;473(9):1437-1454. doi: 10.1007/s00424-021-02570-x. Epub 2021 Jul 1. Pflugers Arch. 2021. PMID: 34212239 Free PMC article. Review.
In humans, mutations in the CACNA1F gene encoding for Cav1.4 channels are associated with X-linked retinal disorders such as congenital stationary night blindness type 2. Mutations in the Cav1.4 protein result in a spectrum of altered functional channe …
In humans, mutations in the CACNA1F gene encoding for Cav1.4 channels are associated with X-linked retinal disorders such as congenital …
Structural aspects of rod opsin and their implication in genetic diseases.
Fanelli F, Felline A, Marigo V. Fanelli F, et al. Pflugers Arch. 2021 Sep;473(9):1339-1359. doi: 10.1007/s00424-021-02546-x. Epub 2021 Mar 16. Pflugers Arch. 2021. PMID: 33728518 Review.
A number of spontaneous mutations of rod opsin have been found linked to vision-impairing diseases like autosomal dominant or autosomal recessive retinitis pigmentosa (adRP or arRP, respectively) and autosomal congenital stationary night blindness (adC …
A number of spontaneous mutations of rod opsin have been found linked to vision-impairing diseases like autosomal dominant or autosomal rece …
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P. Almutairi F, et al. Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26. Acta Ophthalmol. 2021. PMID: 33369259 Free article. Review.
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. ...
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retin …
Congenital Stationary Night Blindness.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:61-64. doi: 10.1007/978-3-319-95046-4_13. Adv Exp Med Biol. 2018. PMID: 30578486 Review.
In congenital stationary night blindness (CSNB), there is a defect in rod photoreceptor signal transmission. This disorder of night vision is non-progressive. The most common inheritance pattern is X-linked, though autosomal recessive and autoso …
In congenital stationary night blindness (CSNB), there is a defect in rod photoreceptor signal transmission. Thi …
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M, Pattnaik BR. Kabra M, et al. Int J Mol Sci. 2020 Sep 21;21(18):6925. doi: 10.3390/ijms21186925. Int J Mol Sci. 2020. PMID: 32967234 Free PMC article. Review.
A wide range of mutations have been reported in the corresponding genes and their interacting subunit coding genes, which contribute significantly to an array of blindness, termed ocular channelopathies. These mutations result in either a loss- or gain-of channel functions …
A wide range of mutations have been reported in the corresponding genes and their interacting subunit coding genes, which contribute signifi …
The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors.
Rashwan R, Hunt DM, Carvalho LS. Rashwan R, et al. Pflugers Arch. 2021 Sep;473(9):1455-1468. doi: 10.1007/s00424-021-02595-2. Epub 2021 Jul 13. Pflugers Arch. 2021. PMID: 34255151 Review.
Their essential contribution to visual processing is further confirmed in patients suffering from cone dystrophy with supernormal rod response (CDSRR) and congenital stationary night blindness type 2 (CSNB2), both conditions that lead to irreversible v …
Their essential contribution to visual processing is further confirmed in patients suffering from cone dystrophy with supernormal rod respon …
Clinical characteristics and current therapies for inherited retinal degenerations.
Sahel JA, Marazova K, Audo I. Sahel JA, et al. Cold Spring Harb Perspect Med. 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. Cold Spring Harb Perspect Med. 2014. PMID: 25324231 Free PMC article. Review.
., Stargardt disease, Best disease, and Sorsby fundus dystrophy), ultimately leading to blindness. IRDs are a major cause of severe vision loss, with profound impact on patients and society. ...
., Stargardt disease, Best disease, and Sorsby fundus dystrophy), ultimately leading to blindness. IRDs are a major cause of severe v …
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I. Zeitz C, et al. Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13. Prog Retin Eye Res. 2015. PMID: 25307992 Review.
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. ...
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retin …
Shedding light on myopia by studying complete congenital stationary night blindness.
Zeitz C, Roger JE, Audo I, Michiels C, Sánchez-Farías N, Varin J, Frederiksen H, Wilmet B, Callebert J, Gimenez ML, Bouzidi N, Blond F, Guilllonneau X, Fouquet S, Léveillard T, Smirnov V, Vincent A, Héon E, Sahel JA, Kloeckener-Gruissem B, Sennlaub F, Morgans CW, Duvoisin RM, Tkatchenko AV, Picaud S. Zeitz C, et al. Prog Retin Eye Res. 2023 Mar;93:101155. doi: 10.1016/j.preteyeres.2022.101155. Epub 2023 Jan 19. Prog Retin Eye Res. 2023. PMID: 36669906 Free article. Review.
Differentially expressed genes (DEGs) identified in animal models mimicking myopia are helpful in suggesting candidate genes implicated in human myopia. Complete congenital stationary night blindness (cCSNB) in humans and animal models represents an ON …
Differentially expressed genes (DEGs) identified in animal models mimicking myopia are helpful in suggesting candidate genes implicated in h …
1 rhodopsin mutations in congenital night blindness.
McAlear SD, Kraft TW, Gross AK. McAlear SD, et al. Adv Exp Med Biol. 2010;664:263-72. doi: 10.1007/978-1-4419-1399-9_30. Adv Exp Med Biol. 2010. PMID: 20238025 Review.
While there are over 100 distinct mutations in the rhodopsin gene that are found in patients with the degenerative disease autosomal dominant retinitis pigmentosa (ADRP), there are only four known mutations in the rhodopsin gene found in patients with the dysfunction congenita …
While there are over 100 distinct mutations in the rhodopsin gene that are found in patients with the degenerative disease autosomal dominan …
12 results