Literature DB >> 8353500

Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.

H Kranich1, S Bartkowski, M J Denton, S Krey, P Dickinson, C Duvigneau, A Gal.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8353500     DOI： 10.1093/hmg/2.6.813

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


× No keyword cloud information.
  20 in total

1.  Sector Retinitis Pigmentosa caused by mutations of the RHO gene.

Authors:  Ting Xiao; Ke Xu; Xiaohui Zhang; Yue Xie; Yang Li
Journal:  Eye (Lond)       Date:  2018-11-02       Impact factor: 3.775

Review 2.  Lifting the lid on GPCRs: the role of extracellular loops.

Authors:  M Wheatley; D Wootten; M T Conner; J Simms; R Kendrick; R T Logan; D R Poyner; J Barwell
Journal:  Br J Pharmacol       Date:  2012-03       Impact factor: 8.739

Review 3.  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

4.  Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Authors:  Lori S Sullivan; Sara J Bowne; Melissa J Reeves; Delphine Blain; Kerry Goetz; Vida Ndifor; Sally Vitez; Xinjing Wang; Santa J Tumminia; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-09-19       Impact factor: 4.799

5.  The G protein-coupled receptor rhodopsin: a historical perspective.

Authors:  Lukas Hofmann; Krzysztof Palczewski
Journal:  Methods Mol Biol       Date:  2015

Review 6.  Finding and interpreting genetic variations that are important to ophthalmologists.

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

7.  Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa.

Authors:  C Reig; J Antich; E Gean; B Garcia-Sandoval; C Ramos; C Ayuso; M Carballo
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

8.  Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

Authors:  R Y Kim; F W Fitzke; A T Moore; M Jay; C Inglehearn; G B Arden; S S Bhattacharya; A C Bird
Journal:  Br J Ophthalmol       Date:  1995-01       Impact factor: 4.638

9.  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

10.  Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.

Authors:  K T Oh; D M Oh; R G Weleber; E M Stone; A Parikh; J White; K A Deboer-Shields; L Streb; C Vallar
Journal:  Br J Ophthalmol       Date:  2004-12       Impact factor: 4.638
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.