Literature DB >> 7981701

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

S Fuchs1, H Kranich, M J Denton, E Zrenner, S S Bhattacharya, P Humphries, A Gal.   

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Year:  1994        PMID： 7981701     DOI： 10.1093/hmg/3.7.1203

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


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  16 in total

1.  Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

Authors:  Benjamin M Scott; Steven K Chen; Nihar Bhattacharyya; Abdiwahab Y Moalim; Sergey V Plotnikov; Elise Heon; Sergio G Peisajovich; Belinda S W Chang
Journal:  Genetics       Date:  2018-12-04       Impact factor: 4.562

2.  Structure and function in rhodopsin: kinetic studies of retinal binding to purified opsin mutants in defined phospholipid-detergent mixtures serve as probes of the retinal binding pocket.

Authors:  P J Reeves; J Hwa; H G Khorana
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

3.  Ocular findings in patients with autosomal dominant retinitis pigmentosa and Cys110Phe, Arg135Gly, and Gln344stop mutations of rhodopsin.

Authors:  S Kremmer; A Eckstein; A Gal; E Apfelstedt-Sylla; H Wedemann; K Rüther; E Zrenner
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-09       Impact factor: 3.117

4.  Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

Authors:  A Schuster; N Weisschuh; H Jägle; D Besch; A R Janecke; H Zierler; S Tippmann; E Zrenner; B Wissinger
Journal:  Br J Ophthalmol       Date:  2005-10       Impact factor: 4.638

5.  Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Authors:  Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; Susan H Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma P Shankar; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-07       Impact factor: 4.799

6.  Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled.

Authors:  J Hwa; P Garriga; X Liu; H G Khorana
Journal:  Proc Natl Acad Sci U S A       Date:  1997-09-30       Impact factor: 11.205

7.  Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Authors:  Mounira Hmani-Aifa; Zeineb Benzina; Fareeha Zulfiqar; Houria Dhouib; Amber Shahzadi; Abdelmonem Ghorbel; Ahmed Rebaï; Peter Söderkvist; Sheikh Riazuddin; William J Kimberling; Hammadi Ayadi
Journal:  Eur J Hum Genet       Date:  2008-10-15       Impact factor: 4.246

8.  Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa.

Authors:  X Liu; P Garriga; H G Khorana
Journal:  Proc Natl Acad Sci U S A       Date:  1996-05-14       Impact factor: 11.205

Review 9.  Finding and interpreting genetic variations that are important to ophthalmologists.

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

10.  Comparative sequence and structural analyses of G-protein-coupled receptor crystal structures and implications for molecular models.

Authors:  Catherine L Worth; Gunnar Kleinau; Gerd Krause
Journal:  PLoS One       Date:  2009-09-16       Impact factor: 3.240
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