Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

1.

Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.

Ueyama H, Muraki-Oda S, Yamade S, Tanabe S, Yamashita T, Shichida Y, Ogita H.

Biochem Biophys Res Commun. 2012 Jul 20;424(1):152-7. doi: 10.1016/j.bbrc.2012.06.094. Epub 2012 Jun 23.

PMID:
22732407
2.

Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency.

Ueyama H, Kuwayama S, Imai H, Oda S, Nishida Y, Tanabe S, Shichida Y, Yamade S.

Vision Res. 2004;44(19):2241-52.

3.

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.

Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3884-92. doi: 10.1167/iovs.09-4592. Epub 2010 Mar 10.

PMID:
20220053
4.

Analysis of introns and promoters of L/M visual pigment genes in relation to deutan color-vision deficiency with an array of normal gene orders.

Ueyama H, Tanabe S, Muraki-Oda S, Yamade S, Ohji M, Ohkubo I.

J Hum Genet. 2009 Sep;54(9):525-30. doi: 10.1038/jhg.2009.73. Epub 2009 Aug 7.

PMID:
19662027
5.

Molecular patterns and sequence polymorphisms in the red and green visual pigment genes of Japanese men.

Deeb SS, Alvarez A, Malkki M, Motulsky AG.

Hum Genet. 1995 May;95(5):501-6.

PMID:
7759069
6.

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ.

Hum Mutat. 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679.

7.

Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in the THRβ2 gene.

Weiss AH, Kelly JP, Bisset D, Deeb SS.

Ophthalmic Genet. 2012 Dec;33(4):187-95. doi: 10.3109/13816810.2012.681096. Epub 2012 May 2.

PMID:
22551329
8.

Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.

McClements M, Davies WI, Michaelides M, Young T, Neitz M, MacLaren RE, Moore AT, Hunt DM.

Invest Ophthalmol Vis Sci. 2013 Feb 15;54(2):1361-9. doi: 10.1167/iovs.12-11156.

9.

[Individual variations in color vision and its molecular biology].

Kitahara K.

Nippon Ganka Gakkai Zasshi. 1998 Dec;102(12):837-49. Japanese.

PMID:
10025115
10.

Nonsense-associated alternative splicing of the human thyroglobulin gene.

Mendive FM, Rivolta CM, González-Sarmiento R, Medeiros-Neto G, Targovnik HM.

Mol Diagn. 2005;9(3):143-9.

PMID:
16271015
11.

A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.

Kanai N, Yanai F, Hirose S, Nibu K, Izuhara K, Tani T, Kubota T, Mitsudome A.

Hum Genet. 1999 Jan;104(1):36-42. Erratum in: Hum Genet 1999 Feb;104(2):196.

PMID:
10071190
12.

Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA.

Hayakawa M, Sakashita E, Ueno E, Tominaga S, Hamamoto T, Kagawa Y, Endo H.

J Biol Chem. 2002 Mar 1;277(9):6974-84. Epub 2001 Dec 13.

13.

Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.

Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ.

Am J Hum Genet. 2002 Apr;70(4):994-1002. Epub 2002 Feb 4.

14.
15.

The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes.

Jagla WM, Jägle H, Hayashi T, Sharpe LT, Deeb SS.

Hum Mol Genet. 2002 Jan 1;11(1):23-32.

PMID:
11772996
16.

The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.

Pepe CM, Saraco NI, Baquedano MS, Guercio G, Vaiani E, Marino R, Pandey AV, Flück CE, Rivarola MA, Belgorosky A.

Clin Endocrinol (Oxf). 2007 Nov;67(5):698-705. Epub 2007 Jul 2.

PMID:
17608756
17.

A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.

Gonçalves V, Theisen P, Antunes O, Medeira A, Ramos JS, Jordan P, Isidro G.

Mutat Res. 2009 Mar 9;662(1-2):33-6. doi: 10.1016/j.mrfmmm.2008.12.001. Epub 2008 Dec 6.

PMID:
19111562
18.

Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3.

Winderickx J, Battisti L, Hibiya Y, Motulsky AG, Deeb SS.

Hum Mol Genet. 1993 Sep;2(9):1413-21.

PMID:
8242064
19.

Number and variations of the red and green visual pigment genes in Japanese men with normal color vision.

Hayashi S, Ueyama H, Tanabe S, Yamade S, Kani K.

Jpn J Ophthalmol. 2001 Jan-Feb;45(1):60-7.

PMID:
11163047
20.

Supplemental Content

Support Center