| 1. |
- Acar, C, et al.
(author)
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Mutation screening of patients with Leber congenital amaurosis or the enhanced S-cone syndrome reveals a lack of sequence variations in the NRL gene
- 2003
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In: Molecular Vision. - 1090-0535. ; 9:3-4, s. 14-17
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Journal article (peer-reviewed)abstract
- Purpose: To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP). Methods: Genomic DNA was isolated from blood samples obtained from 50 patients with Leber Congenital Amaurosis (LCA), 17 patients with the Enhanced S-Cone Syndrome (ESCS), and a patient with an atypical retinal degeneration that causes photoreceptor rosettes with blue cone opsin. The 5' upstream region (putative promoter), untranslated exon 1, coding exons 2 and 3, and exon-intron boundaries of the NRL gene were analyzed by direct sequencing of the PCR-amplified products. Results: Complete sequencing of the NRL gene in DNA samples from this cohort of patients revealed only one nucleotide change. The C->G transversion at nucleotide 711 of NRL exon 3 was detected in one LCA patient; however, this change did not alter the amino acid (L237L). Conclusions: No potential disease causing mutation was identified in the NRL gene in patients with LCA, ESCS, or the atypical retinal degeneration. Together with previous studies, our results demonstrate that mutations in the NRL gene are not a major cause of retinopathy. To date, only missense changes have been reported in adRP patients, and sequence variations are rare. It is possible that the loss of NRL function in humans is associated with a more complex clinical phenotype due to its expression in pineal gland in addition to rod photoreceptors.
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| 2. |
- Pan, Jingxi, et al.
(author)
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Stepwise charge separation from a ruthenium-tyrosine complex to a nanocrystalline TiO2 film
- 2004
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In: Journal of Physical Chemistry B. - : American Chemical Society (ACS). - 1520-6106 .- 1520-5207. ; 108:34, s. 12904-12910
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Journal article (peer-reviewed)abstract
- A supramolecular complex composed of Ru(II) tris-bipyridine, tyrosine, and dipicolylamine was synthesized and characterized. This complex was attached to TiO2 nanocrystalline films via ester groups at the Ru(II) chromophore, and photoinduced multistep electron transfer was investigated by laser flash photolysis and electron paramagnetic resonance techniques. Following ultrafast electron injection from the metal-ligand charge transfer excited states of Ru(II) to the conduction band of TiO2, fast intramolecular electron transfer from the tyrosine moiety to the photogenerated Ru(III) was observed, characterized by a rate constant of similar to2 x 10(6) s(-1). By comparison of recovery kinetics at the isosbestic point with that of the reference compound lacking the tyrosine, it was found that the intramolecular electron-transfer efficiency is 90%. A hydrogen-bond-promoted electron-transfer mechanism is proposed.
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