Literature DB >> 21039428

Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.

M Corton, M J Blanco, M Torres, M Sanchez-Salorio, A Carracedo, M Brion.   

Abstract

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Year:  2010        PMID： 21039428     DOI： 10.1111/j.1399-0004.2010.01487.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

1.  Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.

Authors:  Maxence S Macia; Jan Halbritter; Marion Delous; Cecilie Bredrup; Arthur Gutter; Emilie Filhol; Anne E C Mellgren; Sabine Leh; Albane Bizet; Daniela A Braun; Heon Y Gee; Flora Silbermann; Charline Henry; Pauline Krug; Christine Bole-Feysot; Patrick Nitschké; Dominique Joly; Philippe Nicoud; André Paget; Heidi Haugland; Damien Brackmann; Nayir Ahmet; Richard Sandford; Nurcan Cengiz; Per M Knappskog; Helge Boman; Bolan Linghu; Fan Yang; Edward J Oakeley; Pierre Saint Mézard; Andreas W Sailer; Stefan Johansson; Eyvind Rødahl; Sophie Saunier; Friedhelm Hildebrandt; Alexandre Benmerah
Journal:  Am J Hum Genet       Date:  2017-01-12       Impact factor: 11.025

2.  Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease.

Authors:  Ana M Peiró; Chih-Min Tang; Fiona Murray; Lingzhi Zhang; Loren M Brown; Daisy Chou; Laura Rassenti; Thomas J Kipps; Thomas A Kipps; Paul A Insel
Journal:  J Hum Genet       Date:  2011-07-28       Impact factor: 3.172

3.  Allosteric Regulation of Rod Photoreceptor Phosphodiesterase 6 (PDE6) Elucidated by Chemical Cross-Linking and Quantitative Mass Spectrometry.

Authors:  Feixia Chu; Donna Hogan; Richa Gupta; Xiong-Zhuo Gao; Hieu T Nguyen; Rick H Cote
Journal:  J Mol Biol       Date:  2019-08-05       Impact factor: 5.469

4.  Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.

Authors:  Laura Kuehlewein; Torsten Straßer; Gunnar Blumenstock; Katarina Stingl; M Dominik Fischer; Barbara Wilhelm; Eberhart Zrenner; Bernd Wissinger; Susanne Kohl; Nicole Weisschuh; Ditta Zobor
Journal:  Invest Ophthalmol Vis Sci       Date:  2022-05-02       Impact factor: 4.925

5.  Efficacy of PARP inhibition in Pde6a mutant mouse models for retinitis pigmentosa depends on the quality and composition of individual human mutations.

Authors:  K Jiao; A Sahaboglu; E Zrenner; M Ueffing; P A R Ekström; F Paquet-Durand
Journal:  Cell Death Discov       Date:  2016-07-04

6.  NUTRARET: Effect of 2-Year Nutraceutical Supplementation on Redox Status and Visual Function of Patients With Retinitis Pigmentosa: A Randomized, Double-Blind, Placebo-Controlled Trial.

Authors:  Lorena Olivares-González; David Salom; Emilio González-García; David Hervás; Natalia Mejía-Chiqui; Mar Melero; Sheyla Velasco; Bianca Tabita Muresan; Isabel Campillo; Nieves Vila-Clérigues; Eduardo López-Briz; Juan Francisco Merino-Torres; José María Millán; José Miguel Soriano Del Castillo; Regina Rodrigo
Journal:  Front Nutr       Date:  2022-03-21

7.  Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.

Authors:  Shahid Y Khan; Shahbaz Ali; Muhammad Asif Naeem; Shaheen N Khan; Tayyab Husnain; Nadeem H Butt; Zaheeruddin A Qazi; Javed Akram; Sheikh Riazuddin; Radha Ayyagari; J Fielding Hejtmancik; S Amer Riazuddin
Journal:  Mol Vis       Date:  2015-08-18       Impact factor: 2.367

8.  Infliximab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina.

Authors:  Cristina Martínez-Fernández de la Cámara; Lorena Olivares-González; David Hervás; David Salom; José M Millán; Regina Rodrigo
Journal:  J Neuroinflammation       Date:  2014-10-10       Impact factor: 8.322

9.  Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa.

Authors:  Pratibha Nair; Abdul Rezzak Hamzeh; Ethar Mustafa Malik; Darshjit Oberoi; Mahmoud Taleb Al-Ali; Fatma Bastaki
Journal:  Oman J Ophthalmol       Date:  2017 Sep-Dec

10.  Methylxanthines: Potential Therapeutic Agents for Glioblastoma.

Authors:  Daniel Pérez-Pérez; Iannel Reyes-Vidal; Elda Georgina Chávez-Cortez; Julio Sotelo; Roxana Magaña-Maldonado
Journal:  Pharmaceuticals (Basel)       Date:  2019-09-07
  10 in total

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