Literature DB >> 28106895

Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.

Y Qin1, F Liu1, S Yu1, L Yang1, M Gao1, Z Tang1, A Y Guo2, M Zhang3, P Li3, M Liu1.   

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Year:  2017        PMID： 28106895      PMCID： PMC5437331          DOI： 10.1038/eye.2016.327

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  5 in total

1.  The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression.

Authors:  A Rehemtulla; R Warwar; R Kumar; X Ji; D J Zack; A Swaroop
Journal:  Proc Natl Acad Sci U S A       Date:  1996-01-09       Impact factor: 11.205

2.  Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Authors:  Atsuhiro Kanda; James S Friedman; Koji M Nishiguchi; Anand Swaroop
Journal:  Hum Mutat       Date:  2007-06       Impact factor: 4.878

Review 3.  Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.

Authors:  Alan F Wright; Christina F Chakarova; Mai M Abd El-Aziz; Shomi S Bhattacharya
Journal:  Nat Rev Genet       Date:  2010-04       Impact factor: 53.242

4.  Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Authors:  Meng Gao; Su Zhang; Chunjie Liu; Yayun Qin; Stephen Archacki; Ling Jin; Yong Wang; Fei Liu; Jiaxiang Chen; Ying Liu; Jiuxiang Wang; Mi Huang; Shengjie Liao; Zhaohui Tang; An Yuan Guo; Fagang Jiang; Mugen Liu
Journal:  Mol Vis       Date:  2016-03-18       Impact factor: 2.367

Review 5.  Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy.

Authors:  John Pei-Wen Chiang; Tina Lamey; Terri McLaren; Jennifer A Thompson; Hannah Montgomery; John De Roach
Journal:  Expert Rev Mol Diagn       Date:  2015-08-26       Impact factor: 5.225
  5 in total
  1 in total

1.  Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa.

Authors:  Mohammed E El-Asrag; Marta Corton; Martin McKibbin; Almudena Avila-Fernandez; Moin D Mohamed; Fiona Blanco-Kelly; Carmel Toomes; Chris F Inglehearn; Carmen Ayuso; Manir Ali
Journal:  Mol Vis       Date:  2022-05-17       Impact factor: 2.711
  1 in total

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