Literature DB >> 10192380

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa.

D A Bessant, A M Payne, K P Mitton, Q L Wang, P K Swain, C Plant, A C Bird, D J Zack, A Swaroop, S S Bhattacharya.   

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Year:  1999        PMID: 10192380     DOI: 10.1038/7678

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


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  71 in total

Review 1.  The absence of diabetic retinopathy in patients with retinitis pigmentosa: implications for pathophysiology and possible treatment.

Authors:  G B Arden
Journal:  Br J Ophthalmol       Date:  2001-03       Impact factor: 4.638

Review 2.  Pre-mRNA splicing and retinitis pigmentosa.

Authors:  Daniel Mordes; Xiaoyan Luo; Amar Kar; David Kuo; Lili Xu; Kazuo Fushimi; Guowu Yu; Paul Sternberg; Jane Y Wu
Journal:  Mol Vis       Date:  2006-10-26       Impact factor: 2.367

3.  Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

Authors:  A Schuster; N Weisschuh; H Jägle; D Besch; A R Janecke; H Zierler; S Tippmann; E Zrenner; B Wissinger
Journal:  Br J Ophthalmol       Date:  2005-10       Impact factor: 4.638

4.  Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.

Authors:  R T Tzekov; Y Liu; M M Sohocki; D J Zack; S P Daiger; J R Heckenlively; D G Birch
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-05       Impact factor: 4.799

5.  Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Authors:  Lori S Sullivan; Sara J Bowne; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Richard Alan Lewis; Charles A Garcia; Richard S Ruiz; Susan H Blanton; Hope Northrup; Anisa I Gire; Robyn Seaman; Hatice Duzkale; Catherine J Spellicy; Jingya Zhu; Suma P Shankar; Stephen P Daiger
Journal:  Invest Ophthalmol Vis Sci       Date:  2006-07       Impact factor: 4.799

Review 6.  Regulation of photoreceptor gene expression by Crx-associated transcription factor network.

Authors:  Anne K Hennig; Guang-Hua Peng; Shiming Chen
Journal:  Brain Res       Date:  2007-06-30       Impact factor: 3.252

7.  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

Review 8.  Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

Authors:  Muhammad Umar Ali; Muhammad Saif Ur Rahman; Jiang Cao; Ping Xi Yuan
Journal:  3 Biotech       Date:  2017-07-18       Impact factor: 2.406

9.  BETA2/NeuroD1 null mice: a new model for transcription factor-dependent photoreceptor degeneration.

Authors:  Mark E Pennesi; Jang-Hyeon Cho; Zhuo Yang; Schonmei H Wu; Jian Zhang; Samuel M Wu; Ming-Jer Tsai
Journal:  J Neurosci       Date:  2003-01-15       Impact factor: 6.167

Review 10.  Intrinsic control of mammalian retinogenesis.

Authors:  Mengqing Xiang
Journal:  Cell Mol Life Sci       Date:  2012-10-12       Impact factor: 9.261

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