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241 related items for PubMed ID: 15897456
21. Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. Naylor MJ, Rancourt DE, Bech-Hansen NT. Genomics; 2000 Jun 15; 66(3):324-7. PubMed ID: 10873387 [Abstract] [Full Text] [Related]
22. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. Nat Genet; 1998 Jul 15; 19(3):260-3. PubMed ID: 9662399 [Abstract] [Full Text] [Related]
23. Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels. Williams B, Lopez JA, Maddox JW, Lee A. J Biol Chem; 2020 Dec 11; 295(50):17215-17226. PubMed ID: 33037074 [Abstract] [Full Text] [Related]
24. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Nat Genet; 1998 Jul 11; 19(3):264-7. PubMed ID: 9662400 [Abstract] [Full Text] [Related]
25. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W. Am J Hum Genet; 2006 Oct 11; 79(4):657-67. PubMed ID: 16960802 [Abstract] [Full Text] [Related]
26. Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness. Mihalich A, Cammarata G, Tremolada G, Pollazzon M, Di Blasio AM, Marzoli SB. Exp Eye Res; 2022 Aug 11; 221():109143. PubMed ID: 35697328 [Abstract] [Full Text] [Related]
28. Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation. Jia S, Muto A, Orisme W, Henson HE, Parupalli C, Ju B, Baier H, Taylor MR. Hum Mol Genet; 2014 Jun 01; 23(11):2981-94. PubMed ID: 24419318 [Abstract] [Full Text] [Related]
29. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM. Eur J Hum Genet; 2002 Aug 01; 10(8):449-56. PubMed ID: 12111638 [Abstract] [Full Text] [Related]
30. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Mahmood U, Méjécase C, Ali SMA, Moosajee M, Kozak I. Genes (Basel); 2021 Jan 27; 12(2):. PubMed ID: 33513752 [Abstract] [Full Text] [Related]
31. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. Nakamura M, Ito S, Terasaki H, Miyake Y. Invest Ophthalmol Vis Sci; 2001 Jun 27; 42(7):1610-6. PubMed ID: 11381068 [Abstract] [Full Text] [Related]
32. Visual signal pathway reorganization in the Cacna1f mutant rat model. Tao Y, Chen T, Liu B, Xue JH, Zhang L, Xia F, Pang JJ, Zhang ZM. Invest Ophthalmol Vis Sci; 2013 Mar 19; 54(3):1988-97. PubMed ID: 23425697 [Abstract] [Full Text] [Related]
33. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. Jalkanen R, Mäntyjärvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT. J Med Genet; 2006 Aug 19; 43(8):699-704. PubMed ID: 16505158 [Abstract] [Full Text] [Related]
34. Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy. Pasutto F, Ekici A, Reis A, Kremers J, Huchzermeyer C. Ophthalmic Genet; 2018 Dec 19; 39(6):741-748. PubMed ID: 30260717 [Abstract] [Full Text] [Related]
35. The role of voltage-gated ion channels in visual function and disease in mammalian photoreceptors. Rashwan R, Hunt DM, Carvalho LS. Pflugers Arch; 2021 Sep 19; 473(9):1455-1468. PubMed ID: 34255151 [Abstract] [Full Text] [Related]
36. Structural determinants of L-type channel activation in segment IIS6 revealed by a retinal disorder. Hohaus A, Beyl S, Kudrnac M, Berjukow S, Timin EN, Marksteiner R, Maw MA, Hering S. J Biol Chem; 2005 Nov 18; 280(46):38471-7. PubMed ID: 16157588 [Abstract] [Full Text] [Related]
37. Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F. Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P. Ophthalmic Genet; 2018 Oct 18; 39(5):659-661. PubMed ID: 30067413 [No Abstract] [Full Text] [Related]
38. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Boycott KM, Pearce WG, Bech-Hansen NT. Can J Ophthalmol; 2000 Jun 18; 35(4):204-13. PubMed ID: 10900517 [Abstract] [Full Text] [Related]
39. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F, Barnes S, Rancourt DE, Bech-Hansen NT. Hum Mol Genet; 2005 Oct 15; 14(20):3035-46. PubMed ID: 16155113 [Abstract] [Full Text] [Related]
40. 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 Oct 15; 10(9):e0137072. PubMed ID: 26368928 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]