PubMed (OMIM) for id: 57010

Year	Number of Results
2000	1
2004	1
2005	1
2006	1
2008	1
2009	1
2010	1
2012	2
2013	4
2014	1
2024	0

1

CABP4 mutations do not cause congenital stationary night blindness.

Khan AO. Khan AO. Ophthalmology. 2014 Mar;121(3):e15. doi: 10.1016/j.ophtha.2013.11.005. Epub 2013 Dec 12. Ophthalmology. 2014. PMID: 24332535 No abstract available.

2

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. Bijveld MM, et al. Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25. Ophthalmology. 2013. PMID: 23714322

3

Childhood retinal dystrophies: what's in a name?

Traboulsi EI. Traboulsi EI. Br J Ophthalmol. 2013 Mar;97(3):247. doi: 10.1136/bjophthalmol-2012-302703. Epub 2012 Dec 13. Br J Ophthalmol. 2013. PMID: 23242674 No abstract available.

4

Clinical characterisation of the CABP4-related retinal phenotype.

Khan AO, Alrashed M, Alkuraya FS. Khan AO, et al. Br J Ophthalmol. 2013 Mar;97(3):262-5. doi: 10.1136/bjophthalmol-2012-302186. Epub 2012 Oct 25. Br J Ophthalmol. 2013. PMID: 23099293

5

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.

Aldahmesh MA, Al-Owain M, Alqahtani F, Hazzaa S, Alkuraya FS. Aldahmesh MA, et al. Mol Vis. 2010 Feb 10;16:207-12. Mol Vis. 2010. PMID: 20157620 Free PMC article.

6

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI. Littink KW, et al. Invest Ophthalmol Vis Sci. 2009 May;50(5):2344-50. doi: 10.1167/iovs.08-2553. Epub 2008 Dec 13. Invest Ophthalmol Vis Sci. 2009. PMID: 19074807

7

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. Zeitz C, et al. Am J Hum Genet. 2006 Oct;79(4):657-67. doi: 10.1086/508067. Epub 2006 Aug 23. Am J Hum Genet. 2006. PMID: 16960802 Free PMC article.

8

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. Mansergh F, et al. Hum Mol Genet. 2005 Oct 15;14(20):3035-46. doi: 10.1093/hmg/ddi336. Epub 2005 Sep 9. Hum Mol Genet. 2005. PMID: 16155113

9

Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.

Haeseleer F, Imanishi Y, Maeda T, Possin DE, Maeda A, Lee A, Rieke F, Palczewski K. Haeseleer F, et al. Nat Neurosci. 2004 Oct;7(10):1079-87. doi: 10.1038/nn1320. Epub 2004 Sep 26. Nat Neurosci. 2004. PMID: 15452577 Free PMC article.

10

Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin.

Haeseleer F, Sokal I, Verlinde CL, Erdjument-Bromage H, Tempst P, Pronin AN, Benovic JL, Fariss RN, Palczewski K. Haeseleer F, et al. J Biol Chem. 2000 Jan 14;275(2):1247-60. doi: 10.1074/jbc.275.2.1247. J Biol Chem. 2000. PMID: 10625670 Free PMC article.

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