Literature DB >> 8499910

A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa.

G Restagno1, M Maghtheh, S Bhattacharya, M Ferrone, S Garnerone, R Samuelly, A Carbonara.   

Abstract

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Year:  1993        PMID： 8499910     DOI： 10.1093/hmg/2.2.207

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  12 in total

Review 1.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

Review 2.  The functional cycle of visual arrestins in photoreceptor cells.

Authors:  Vsevolod V Gurevich; Susan M Hanson; Xiufeng Song; Sergey A Vishnivetskiy; Eugenia V Gurevich
Journal:  Prog Retin Eye Res       Date:  2011-07-29       Impact factor: 21.198

3.  Deletion in the OA1 gene in a family with congenital X linked nystagmus.

Authors:  M Preising; J P Op de Laak; B Lorenz
Journal:  Br J Ophthalmol       Date:  2001-09       Impact factor: 4.638

Review 4.  Custom-designed proteins as novel therapeutic tools? The case of arrestins.

Authors:  Vsevolod V Gurevich; Eugenia V Gurevich
Journal:  Expert Rev Mol Med       Date:  2010-04-23       Impact factor: 5.600

5.  Enhanced phosphorylation-independent arrestins and gene therapy.

Authors:  Vsevolod V Gurevich; Xiufeng Song; Sergey A Vishnivetskiy; Eugenia V Gurevich
Journal:  Handb Exp Pharmacol       Date:  2014

6.  Targeting individual GPCRs with redesigned nonvisual arrestins.

Authors:  Luis E Gimenez; Sergey A Vishnivetskiy; Vsevolod V Gurevich
Journal:  Handb Exp Pharmacol       Date:  2014

7.  Enhanced arrestin facilitates recovery and protects rods lacking rhodopsin phosphorylation.

Authors:  Xiufeng Song; Sergey A Vishnivetskiy; Owen P Gross; Katrina Emelianoff; Ana Mendez; Jeannie Chen; Eugenia V Gurevich; Marie E Burns; Vsevolod V Gurevich
Journal:  Curr Biol       Date:  2009-04-09       Impact factor: 10.834

Review 8.  Analyzing the roles of multi-functional proteins in cells: The case of arrestins and GRKs.

Authors:  Vsevolod V Gurevich; Eugenia V Gurevich
Journal:  Crit Rev Biochem Mol Biol       Date:  2015       Impact factor: 8.250

9.  Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q.

Authors:  K Evans; M al-Maghtheh; F W Fitzke; A T Moore; M Jay; C F Inglehearn; G B Arden; A C Bird
Journal:  Br J Ophthalmol       Date:  1995-09       Impact factor: 4.638

10.  Mutation analysis of codons 345 and 347 of rhodopsin gene in Indian retinitis pigmentosa patients.

Authors:  M Dikshit; R Agarwal
Journal:  J Genet       Date:  2001-08       Impact factor: 1.508
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