Literature DB >> 7987385

Missense rhodopsin mutation in a family with recessive RP.

G Kumaramanickavel, M Maw, M J Denton, S John, C R Srikumari, U Orth, R Oehlmann, A Gal.   

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Year:  1994        PMID： 7987385     DOI： 10.1038/ng0994-10

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  26 in total

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2.  Simple tests for rhodopsin involvement in retinitis pigmentosa.

Authors:  E Tarttelin; M Al-Maghtheh; J Keen; S Bhattacharya; C Inglehearn
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

3.  A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.

Authors:  S van Soest; J Swart; N Tijmes; L A Sandkuijl; J Rommers; A A Bergen
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4.  Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene.

Authors:  Li Zhu; Yoshikazu Imanishi; Sławomir Filipek; Andrei Alekseev; Beata Jastrzebska; Wenyu Sun; David A Saperstein; Krzysztof Palczewski
Journal:  J Biol Chem       Date:  2006-05-31       Impact factor: 5.157

5.  Electrostatic compensation restores trafficking of the autosomal recessive retinitis pigmentosa E150K opsin mutant to the plasma membrane.

Authors:  Lakshmi Padmavathi Pulagam; Krzysztof Palczewski
Journal:  J Biol Chem       Date:  2010-07-13       Impact factor: 5.157

6.  Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa.

Authors:  Kota Lalitha; Subhadra Jalali; Tejas Kadakia; Chitra Kannabiran
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7.  Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization.

Authors:  Ning Zhang; Alexander V Kolesnikov; Beata Jastrzebska; Debarshi Mustafi; Osamu Sawada; Tadao Maeda; Christel Genoud; Andreas Engel; Vladimir J Kefalov; Krzysztof Palczewski
Journal:  J Clin Invest       Date:  2012-12-10       Impact factor: 14.808

Review 8.  Finding and interpreting genetic variations that are important to ophthalmologists.

Authors:  Edwin M Stone
Journal:  Trans Am Ophthalmol Soc       Date:  2003

9.  A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

Authors:  Maleeha Azam; Muhammad Imran Khan; Andreas Gal; Alamdar Hussain; Syed Tahir Abbas Shah; Muhammad Shakil Khan; Ahmed Sadeque; Habib Bokhari; Rob W J Collin; Ulrike Orth; Maria M van Genderen; A I den Hollander; Frans P M Cremers; Raheel Qamar
Journal:  Mol Vis       Date:  2009-12-03       Impact factor: 2.367

10.  Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.

Authors:  Yuichiro Ando; Masayuki Ohmori; Hideki Ohtake; Kuniyo Ohtoko; Shigeru Toyama; Ron Usami; Aya O'hira; Hiromi Hata; Kenji Yanashima; Seishi Kato
Journal:  Mol Vis       Date:  2007-06-29       Impact factor: 2.367
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