Literature DB >> 7987331

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

E Souied1, S Gerber, J M Rozet, D Bonneau, J L Dufier, I Ghazi, N Philip, G Soubrane, G Coscas, A Munnich.   

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Year:  1994        PMID： 7987331     DOI： 10.1093/hmg/3.8.1433

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


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  10 in total

1.  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

Review 2.  Structure and activation of rhodopsin.

Authors:  X Edward Zhou; Karsten Melcher; H Eric Xu
Journal:  Acta Pharmacol Sin       Date:  2012-01-23       Impact factor: 6.150

3.  Amino acid residues critical for endoplasmic reticulum export and trafficking of platelet-activating factor receptor.

Authors:  Nobuaki Hirota; Daisuke Yasuda; Tomomi Hashidate; Teruyasu Yamamoto; Satoshi Yamaguchi; Teruyuki Nagamune; Takahide Nagase; Takao Shimizu; Motonao Nakamura
Journal:  J Biol Chem       Date:  2009-12-10       Impact factor: 5.157

Review 4.  Finding and interpreting genetic variations that are important to ophthalmologists.

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

5.  Misfolded rhodopsin mutants display variable aggregation properties.

Authors:  Megan Gragg; Paul S-H Park
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2018-06-08       Impact factor: 5.187

6.  Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

Authors:  Isabelle Audo; Gaël Manes; Saddek Mohand-Saïd; Anne Friedrich; Marie-Elise Lancelot; Aline Antonio; Veselina Moskova-Doumanova; Oliver Poch; Xavier Zanlonghi; Christian P Hamel; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-02-17       Impact factor: 4.799

7.  Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

Authors:  María González-del Pozo; Salud Borrego; Isabel Barragán; Juan I Pieras; Javier Santoyo; Nerea Matamala; Belén Naranjo; Joaquín Dopazo; Guillermo Antiñolo
Journal:  PLoS One       Date:  2011-12-02       Impact factor: 3.240

8.  Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.

Authors:  Avigail Beryozkin; Gal Levy; Anat Blumenfeld; Segev Meyer; Prasanthi Namburi; Yair Morad; Libe Gradstein; Anand Swaroop; Eyal Banin; Dror Sharon
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-03       Impact factor: 4.799

9.  Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Authors:  Caroline Van Cauwenbergh; Frauke Coppieters; Dimitri Roels; Sarah De Jaegere; Helena Flipts; Julie De Zaeytijd; Sophie Walraedt; Charlotte Claes; Erik Fransen; Guy Van Camp; Fanny Depasse; Ingele Casteels; Thomy de Ravel; Bart P Leroy; Elfride De Baere
Journal:  PLoS One       Date:  2017-01-11       Impact factor: 3.240

Review 10.  Sector retinitis pigmentosa: Report of ten cases and a review of the literature.

Authors:  Razek Georges Coussa; Diana Basali; Akiko Maeda; Meghan DeBenedictis; Elias I Traboulsi
Journal:  Mol Vis       Date:  2019-12-30       Impact factor: 2.367
  10 in total

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