Literature DB >> 16024868

An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.

S H Chavala, A Sari, H Lewis, G J T Pauer, E Simpson, S A Hagstrom, E I Traboulsi.   

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Year:  2005        PMID： 16024868      PMCID： PMC1772771          DOI： 10.1136/bjo.2005.068130

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  14 in total

1.  Diagnostic features of the Favre-Goldmann syndrome.

Authors:  G A Fishman; L M Jampol; M F Goldberg
Journal:  Br J Ophthalmol       Date:  1976-05       Impact factor: 4.638

2.  Identification of a photoreceptor cell-specific nuclear receptor.

Authors:  M Kobayashi; S Takezawa; K Hara; R T Yu; Y Umesono; K Agata; M Taniwaki; K Yasuda; K Umesono
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-27       Impact factor: 11.205

3.  [Two cases of hyaloid-retinal degeneration].

Authors:  M FAVRE
Journal:  Ophthalmologica       Date:  1958 May-Jun       Impact factor: 3.250

4.  Standard for clinical electroretinography (2004 update).

Authors:  Michael F Marmor; Graham E Holder; Mathias W Seeliger; Shuichi Yamamoto
Journal:  Doc Ophthalmol       Date:  2004-03       Impact factor: 2.379

5.  Hereditary retinoschisis and early hemeralopia. A report of two cases.

Authors:  J E MacVicar; H R Wilbrandt
Journal:  Arch Ophthalmol       Date:  1970-05

6.  Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.

Authors:  J R Heckenlively
Journal:  Br J Ophthalmol       Date:  1982-01       Impact factor: 4.638

7.  Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.

Authors:  N B Haider; J K Naggert; P M Nishina
Journal:  Hum Mol Genet       Date:  2001-08-01       Impact factor: 6.150

8.  The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.

Authors:  Ann H Milam; Linda Rose; Artur V Cideciyan; Mark R Barakat; Wai-Xing Tang; Nisha Gupta; Tomas S Aleman; Alan F Wright; Edwin M Stone; Val C Sheffield; Samuel G Jacobson
Journal:  Proc Natl Acad Sci U S A       Date:  2002-01-02       Impact factor: 11.205

9.  Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Authors:  Dror Sharon; Michael A Sandberg; Rafael C Caruso; Eliot L Berson; Thaddeus P Dryja
Journal:  Arch Ophthalmol       Date:  2003-09

10.  Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.

Authors:  Samuel G Jacobson; Alexander Sumaroka; Tomas S Aleman; Artur V Cideciyan; Sharon B Schwartz; Alejandro J Roman; Roderick R McInnes; Val C Sheffield; Edwin M Stone; Anand Swaroop; Alan F Wright
Journal:  Hum Mol Genet       Date:  2004-06-30       Impact factor: 6.150
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  15 in total

Review 1.  Orphan nuclear receptors as targets for drug development.

Authors:  Subhajit Mukherjee; Sridhar Mani
Journal:  Pharm Res       Date:  2010-04-06       Impact factor: 4.200

2.  Morphological and functional correlates in Goldmann-Favre syndrome: a case series.

Authors:  Madhavendra Bhandari; Rajni Rajan; P Tandava Krishnan; Swakshyar Saumya Pal; Rajiv Raman; Tarun Sharma
Journal:  Korean J Ophthalmol       Date:  2012-03-22

3.  Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene.

Authors:  N-K Wang; H F Fine; S Chang; C L Chou; W Cella; J Tosi; C-S Lin; T Nagasaki; S H Tsang
Journal:  Br J Ophthalmol       Date:  2009-05-07       Impact factor: 4.638

Review 4.  Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction.

Authors:  Neena B Haider; Nissa Mollema; Meghan Gaule; Yang Yuan; Andrew J Sachs; Arne M Nystuen; Jürgen K Naggert; Patsy M Nishina
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Review 5.  Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases.

Authors:  Bincui Cai; Shuo Sun; Zhiqing Li; Xiaomin Zhang; Yifeng Ke; Jin Yang; Xiaorong Li
Journal:  Hum Genet       Date:  2018-09-10       Impact factor: 4.132

6.  Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Authors:  Pascal Escher; Peter Gouras; Raphaël Roduit; Leila Tiab; Sylvain Bolay; Tania Delarive; Shiming Chen; Chih-Cheng Tsai; Masanori Hayashi; Jana Zernant; Joanna E Merriam; Nicolas Mermod; Rando Allikmets; Francis L Munier; Daniel F Schorderet
Journal:  Hum Mutat       Date:  2009-03       Impact factor: 4.878

7.  Overexpression of retinal degeneration slow (RDS) protein adversely affects rods in the rd7 model of enhanced S-cone syndrome.

Authors:  Dibyendu Chakraborty; Shannon M Conley; Muna I Naash
Journal:  PLoS One       Date:  2013-05-01       Impact factor: 3.240

8.  Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina.

Authors:  Nissa J Mollema; Yang Yuan; Austin S Jelcick; Andrew J Sachs; Désirée von Alpen; Daniel Schorderet; Pascal Escher; Neena B Haider
Journal:  PLoS One       Date:  2011-03-08       Impact factor: 3.240

9.  Photoreceptor cells display a daily rhythm in the orphan receptor Esrrβ.

Authors:  Stefanie Kunst; Tanja Wolloscheck; Markus Grether; Patricia Trunsch; Uwe Wolfrum; Rainer Spessert
Journal:  Mol Vis       Date:  2015-02-19       Impact factor: 2.367

10.  The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.

Authors:  M H Eileen Tan; X Edward Zhou; Fen-Fen Soon; Xiaodan Li; Jun Li; Eu-Leong Yong; Karsten Melcher; H Eric Xu
Journal:  PLoS One       Date:  2013-09-12       Impact factor: 3.240
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