Literature DB >> 16622103

Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6.

E O'Connor, L E Allen, K Bradshaw, J Boylan, A T Moore, D Trump.   

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Year:  2006        PMID： 16622103      PMCID： PMC1857053          DOI： 10.1136/bjo.2005.086678

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


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  10 in total

1.  Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.

Authors:  L E Allen; I Zito; K Bradshaw; R J Patel; A C Bird; F Fitzke; J R Yates; D Trump; A J Hardcastle; A T Moore
Journal:  Br J Ophthalmol       Date:  2003-11       Impact factor: 4.638

2.  Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.

Authors:  Thaddeus P Dryja; Terri L McGee; Eliot L Berson; Gerald A Fishman; Michael A Sandberg; Kenneth R Alexander; Deborah J Derlacki; Aruna S Rajagopalan
Journal:  Proc Natl Acad Sci U S A       Date:  2005-03-21       Impact factor: 11.205

3.  Functions of the ON and OFF channels of the visual system.

Authors:  P H Schiller; J H Sandell; J H Maunsell
Journal:  Nature       Date:  1986 Aug 28-Sep 3       Impact factor: 49.962

4.  Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.

Authors:  P A Sieving; J E Richards; F Naarendorp; E L Bingham; K Scott; M Alpern
Journal:  Proc Natl Acad Sci U S A       Date:  1995-01-31       Impact factor: 11.205

5.  Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.

Authors:  T P Dryja; E L Berson; V R Rao; D D Oprian
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

6.  2-amino-4-phosphonobutyric acid: a new pharmacological tool for retina research.

Authors:  M M Slaughter; R F Miller
Journal:  Science       Date:  1981-01-09       Impact factor: 47.728

7.  A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.

Authors:  N al-Jandal; G J Farrar; A S Kiang; M M Humphries; N Bannon; J B Findlay; P Humphries; P F Kenna
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

8.  Mutations in the CACNA1F and NYX genes in British CSNBX families.

Authors:  Ilaria Zito; Louise E Allen; Reshma J Patel; Alfons Meindl; Keith Bradshaw; John R Yates; Alan C Bird; Lynda Erskine; Michael E Cheetham; Andrew R Webster; Subathra Poopalasundaram; Anthony T Moore; Dorothy Trump; Alison J Hardcastle
Journal:  Hum Mutat       Date:  2003-02       Impact factor: 4.878

9.  Molecular characterization of a novel retinal metabotropic glutamate receptor mGluR6 with a high agonist selectivity for L-2-amino-4-phosphonobutyrate.

Authors:  Y Nakajima; H Iwakabe; C Akazawa; H Nawa; R Shigemoto; N Mizuno; S Nakanishi
Journal:  J Biol Chem       Date:  1993-06-05       Impact factor: 5.157

10.  Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.

Authors:  Felix K Jacobi; Sten Andréasson; Hana Langrova; Alfons Meindl; Eberhart Zrenner; Eckart Apfelstedt-Sylla; Carsten M Pusch
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2002-09-21       Impact factor: 3.117
  10 in total
  14 in total

1.  TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.

Authors:  Yan Cao; Ekaterina Posokhova; Kirill A Martemyanov
Journal:  J Neurosci       Date:  2011-08-10       Impact factor: 6.167

2.  Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

Authors:  Nancy Huynh; Brett G Jeffrey; Amy Turriff; Paul A Sieving; Catherine A Cukras
Journal:  Ophthalmic Genet       Date:  2014-01-07       Impact factor: 1.803

3.  mGluR6 deletion renders the TRPM1 channel in retina inactive.

Authors:  Ying Xu; Anuradha Dhingra; Marie E Fina; Chieko Koike; Takahisa Furukawa; Noga Vardi
Journal:  J Neurophysiol       Date:  2011-11-30       Impact factor: 2.714

4.  Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Authors:  Christina Zeitz; Samuel G Jacobson; Christian P Hamel; Kinga Bujakowska; Marion Neuillé; Elise Orhan; Xavier Zanlonghi; Marie-Elise Lancelot; Christelle Michiels; Sharon B Schwartz; Béatrice Bocquet; Aline Antonio; Claire Audier; Mélanie Letexier; Jean-Paul Saraiva; Tien D Luu; Florian Sennlaub; Hoan Nguyen; Olivier Poch; Hélène Dollfus; Odile Lecompte; Susanne Kohl; José-Alain Sahel; Shomi S Bhattacharya; Isabelle Audo
Journal:  Am J Hum Genet       Date:  2012-12-13       Impact factor: 11.025

5.  Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses.

Authors:  Dennis M Maddox; Kirstan A Vessey; Gary L Yarbrough; Brandon M Invergo; Donald R Cantrell; Samsoon Inayat; Victoria Balannik; Wanda L Hicks; Norman L Hawes; Shannon Byers; Richard S Smith; Ron Hurd; Douglas Howell; Ronald G Gregg; Bo Chang; Jürgen K Naggert; John B Troy; Lawrence H Pinto; Patsy M Nishina; Maureen A McCall
Journal:  J Physiol       Date:  2008-08-07       Impact factor: 5.182

6.  Type-1, but Not Type-5, Metabotropic Glutamate Receptors are Coupled to Polyphosphoinositide Hydrolysis in the Retina.

Authors:  Maria Rosaria Romano; Luisa Di Menna; Pamela Scarselli; Giada Mascio; Michele Madonna; Serena Notartomaso; Aldamaria Puliti; Valeria Bruno; Giuseppe Battaglia; Ferdinando Nicoletti
Journal:  Neurochem Res       Date:  2015-12-23       Impact factor: 3.996

7.  Neurobiological hypothesis of color appearance and hue perception.

Authors:  Brian P Schmidt; Maureen Neitz; Jay Neitz
Journal:  J Opt Soc Am A Opt Image Sci Vis       Date:  2014-04-01       Impact factor: 2.129

Review 8.  Metabotropic glutamate receptors: from the workbench to the bedside.

Authors:  F Nicoletti; J Bockaert; G L Collingridge; P J Conn; F Ferraguti; D D Schoepp; J T Wroblewski; J P Pin
Journal:  Neuropharmacology       Date:  2010-10-29       Impact factor: 5.250

9.  Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse.

Authors:  Lawrence H Pinto; Martha H Vitaterna; Kazuhiro Shimomura; Sandra M Siepka; Victoria Balannik; Erin L McDearmon; Chiaki Omura; Stephen Lumayag; Brandon M Invergo; Brett Glawe; Donald R Cantrell; Samsoon Inayat; Marissa A Olvera; Kirstan A Vessey; Maureen A McCall; Dennis Maddox; Catherine W Morgans; Brandon Young; Mathew T Pletcher; Robert F Mullins; John B Troy; Joseph S Takahashi
Journal:  Vis Neurosci       Date:  2007 Jan-Feb       Impact factor: 3.241

10.  Sequence variations of GRM6 in patients with high myopia.

Authors:  Xiaoyu Xu; Shiqiang Li; Xueshan Xiao; Panfeng Wang; Xiangming Guo; Qingjiong Zhang
Journal:  Mol Vis       Date:  2009-10-19       Impact factor: 2.367
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