Literature DB >> 17249567

Transgenic animal studies of human retinal disease caused by mutations in peripherin/rds.

Xi-Qin Ding1, Muna I Naash.   

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Year:  2006        PMID： 17249567      PMCID： PMC2793174          DOI： 10.1007/0-387-32442-9_21

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  23 in total

1.  Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors.

Authors:  W Kedzierski; M Lloyd; D G Birch; D Bok; G H Travis
Journal:  Invest Ophthalmol Vis Sci       Date:  1997-02       Impact factor: 4.799

2.  Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene.

Authors:  A M Payne; S M Downes; D A Bessant; A C Bird; S S Bhattacharya
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

3.  Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

Authors:  T P Dryja; L B Hahn; K Kajiwara; E L Berson
Journal:  Invest Ophthalmol Vis Sci       Date:  1997-09       Impact factor: 4.799

4.  Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene.

Authors:  S G Jacobson; A V Cideciyan; A M Maguire; J Bennett; V C Sheffield; E M Stone
Journal:  Exp Eye Res       Date:  1996-11       Impact factor: 3.467

5.  A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.

Authors:  M Saga; Y Mashima; K Akeo; Y Oguchi; J Kudoh; N Shimizu
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

6.  Macular dystrophy associated with monogenic Arg172Trp mutation of the peripherin/RDS gene in a Japanese family.

Authors:  M Nakazawa; Y Wada; M Tamai
Journal:  Retina       Date:  1995       Impact factor: 4.256

7.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Authors:  J Wells; J Wroblewski; J Keen; C Inglehearn; C Jubb; A Eckstein; M Jay; G Arden; S Bhattacharya; F Fitzke
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

8.  Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes.

Authors:  A F Goldberg; O L Moritz; R S Molday
Journal:  Biochemistry       Date:  1995-10-31       Impact factor: 3.162

9.  Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene.

Authors:  E Apfelstedt-Sylla; M Theischen; K Rüther; H Wedemann; A Gal; E Zrenner
Journal:  Br J Ophthalmol       Date:  1995-01       Impact factor: 4.638

10.  [Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

Authors:  E Millá; E Héon; B Piguet; N Ducrey; N Butler; E Stone; D F Schorderet; F Munier
Journal:  Klin Monbl Augenheilkd       Date:  1998-05       Impact factor: 0.700
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  1 in total

Review 1.  The cell biology of vision.

Authors:  Ching-Hwa Sung; Jen-Zen Chuang
Journal:  J Cell Biol       Date:  2010-09-20       Impact factor: 10.539
  1 in total

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