Literature DB >> 9238087

A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.

M Danciger1, V Heilbron, Y Q Gao, D Y Zhao, S G Jacobson, D B Farber.   

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Year:  1996        PMID： 9238087

Source DB:  PubMed          Journal:  Mol Vis        ISSN： 1090-0535            Impact factor:   2.367


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  13 in total

1.  Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation.

Authors:  Samuel G Jacobson; Alexander Sumaroka; Tomas S Aleman; Artur V Cideciyan; Michael Danciger; Debora B Farber
Journal:  Br J Ophthalmol       Date:  2007-05       Impact factor: 4.638

2.  Regulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene.

Authors:  Mark R Verardo; Andrea Viczian; Natik Piri; Novrouz B Akhmedov; Barry E Knox; Debora B Farber
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-02-14       Impact factor: 4.799

3.  Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.

Authors:  Kazuki Kuniyoshi; Hiroyuki Sakuramoto; Kazutoshi Yoshitake; Kazuho Ikeo; Masaaki Furuno; Kazushige Tsunoda; Shunji Kusaka; Yoshikazu Shimomura; Takeshi Iwata
Journal:  Doc Ophthalmol       Date:  2015-04-01       Impact factor: 2.379

4.  Novel mutations in PDE6B causing human retinitis pigmentosa.

Authors:  Lu-Lu Cheng; Ru-Yi Han; Fa-Yu Yang; Xin-Ping Yu; Jin-Ling Xu; Qing-Jie Min; Jie Tian; Xiang-Lian Ge; Si-Si Zheng; Ye-Wen Lin; Yi-Han Zheng; Jia Qu; Feng Gu
Journal:  Int J Ophthalmol       Date:  2016-08-18       Impact factor: 1.779

5.  Restoration of vision in the pde6β-deficient dog, a large animal model of rod-cone dystrophy.

Authors:  Lolita Petit; Elsa Lhériteau; Michel Weber; Guylène Le Meur; Jack-Yves Deschamps; Nathalie Provost; Alexandra Mendes-Madeira; Lyse Libeau; Caroline Guihal; Marie-Anne Colle; Philippe Moullier; Fabienne Rolling
Journal:  Mol Ther       Date:  2012-07-24       Impact factor: 11.454

6.  AAV-mediated Gene Therapy Halts Retinal Degeneration in PDE6β-deficient Dogs.

Authors:  Virginie Pichard; Nathalie Provost; Alexandra Mendes-Madeira; Lyse Libeau; Philippe Hulin; Kizito-Tshitoko Tshilenge; Marine Biget; Baptiste Ameline; Jack-Yves Deschamps; Michel Weber; Guylène Le Meur; Marie-Anne Colle; Philippe Moullier; Fabienne Rolling
Journal:  Mol Ther       Date:  2016-02-09       Impact factor: 11.454

7.  Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

Authors:  Samer Khateb; Marco Nassisi; Kinga M Bujakowska; Cécile Méjécase; Christel Condroyer; Aline Antonio; Marine Foussard; Vanessa Démontant; Saddek Mohand-Saïd; José-Alain Sahel; Christina Zeitz; Isabelle Audo
Journal:  JAMA Ophthalmol       Date:  2019-06-01       Impact factor: 7.389

8.  Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

Authors:  A V Cideciyan; D C Hood; Y Huang; E Banin; Z Y Li; E M Stone; A H Milam; S G Jacobson
Journal:  Proc Natl Acad Sci U S A       Date:  1998-06-09       Impact factor: 11.205

9.  Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.

Authors:  Sherry Shen; Tharikarn Sujirakul; Stephen H Tsang
Journal:  Ophthalmic Genet       Date:  2014-05-14       Impact factor: 1.803

Review 10.  Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.

Authors:  Alexandra V Garafalo; Artur V Cideciyan; Elise Héon; Rebecca Sheplock; Alexander Pearson; Caberry WeiYang Yu; Alexander Sumaroka; Gustavo D Aguirre; Samuel G Jacobson
Journal:  Prog Retin Eye Res       Date:  2019-12-30       Impact factor: 21.198
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