Literature DB >> 22744390

Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.

A Vincent, E Héon.   

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Year:  2012        PMID： 22744390      PMCID： PMC3443831          DOI： 10.1038/eye.2012.125

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


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  9 in total

1.  Immunohistochemical analysis of the outer plexiform layer in the nob mouse shows no abnormalities.

Authors:  Sherry L Ball; Machelle T Pardue; Maureen A McCall; Ronald G Gregg; Neal S Peachey
Journal:  Vis Neurosci       Date:  2003 May-Jun       Impact factor: 3.241

2.  Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.

Authors:  Fiona Mansergh; Noelle C Orton; John P Vessey; Melanie R Lalonde; William K Stell; Francois Tremblay; Steven Barnes; Derrick E Rancourt; N Torben Bech-Hansen
Journal:  Hum Mol Genet       Date:  2005-09-09       Impact factor: 6.150

3.  Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.

Authors:  Royce W S Chen; Jonathan P Greenberg; Margot A Lazow; Rithu Ramachandran; Luiz H Lima; John C Hwang; Carl Schubert; Alexandra Braunstein; Rando Allikmets; Stephen H Tsang
Journal:  Am J Ophthalmol       Date:  2011-09-13       Impact factor: 5.258

4.  The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.

Authors:  Bo Chang; John R Heckenlively; Philippa R Bayley; Nicholas C Brecha; Muriel T Davisson; Norm L Hawes; Arlene A Hirano; Ronald E Hurd; Akihiro Ikeda; Britt A Johnson; Maureen A McCall; Catherine W Morgans; Steve Nusinowitz; Neal S Peachey; Dennis S Rice; Kirstan A Vessey; Ronald G Gregg
Journal:  Vis Neurosci       Date:  2006 Jan-Feb       Impact factor: 3.241

5.  Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Authors:  N T Bech-Hansen; M J Naylor; T A Maybaum; R L Sparkes; B Koop; D G Birch; A A Bergen; C F Prinsen; R C Polomeno; A Gal; A V Drack; M A Musarella; S G Jacobson; R S Young; R G Weleber
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

6.  Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology.

Authors:  Mary A Raven; Noelle C Orton; Hadi Nassar; Gary A Williams; William K Stell; Gerald H Jacobs; N Torben Bech-Hansen; Benjamin E Reese
Journal:  J Comp Neurol       Date:  2008-02-10       Impact factor: 3.215

7.  Human photoreceptor topography.

Authors:  C A Curcio; K R Sloan; R E Kalina; A E Hendrickson
Journal:  J Comp Neurol       Date:  1990-02-22       Impact factor: 3.215

8.  An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Authors:  T M Strom; G Nyakatura; E Apfelstedt-Sylla; H Hellebrand; B Lorenz; B H Weber; K Wutz; N Gutwillinger; K Rüther; B Drescher; C Sauer; E Zrenner; T Meitinger; A Rosenthal; A Meindl
Journal:  Nat Genet       Date:  1998-07       Impact factor: 38.330

9.  A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

Authors:  Ajoy Vincent; Tom Wright; Megan A Day; Carol A Westall; Elise Héon
Journal:  Mol Vis       Date:  2011-12-15       Impact factor: 2.367
  9 in total
  4 in total

Review 1.  Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.

Authors:  D M Waldner; N T Bech-Hansen; W K Stell
Journal:  Biomed Res Int       Date:  2018-05-09       Impact factor: 3.411

2.  Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.

Authors:  Kate E Leahy; Tom Wright; Monika K Grudzinska Pechhacker; Isabelle Audo; Anupreet Tumber; Erika Tavares; Heather MacDonald; Jeff Locke; Cynthia VandenHoven; Christina Zeitz; Elise Heon; J Raymond Buncic; Ajoy Vincent
Journal:  Genes (Basel)       Date:  2021-02-25       Impact factor: 4.096

3.  Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.

Authors:  Virginie Dinet; Giuseppe D Ciccotosto; Kimberley Delaunay; Céline Borras; Isabelle Ranchon-Cole; Corinne Kostic; Michèle Savoldelli; Mohamed El Sanharawi; Laurent Jonet; Caroline Pirou; Na An; Marc Abitbol; Yvan Arsenijevic; Francine Behar-Cohen; Roberto Cappai; Frédéric Mascarelli
Journal:  Mol Brain       Date:  2016-06-08       Impact factor: 4.041

4.  Retinal analysis of a mouse model of Alzheimer's disease with multicontrast optical coherence tomography.

Authors:  Danielle J Harper; Marco Augustin; Antonia Lichtenegger; Johanna Gesperger; Tanja Himmel; Martina Muck; Conrad W Merkle; Pablo Eugui; Stefan Kummer; Adelheid Woehrer; Martin Glösmann; Bernhard Baumann
Journal:  Neurophotonics       Date:  2020-02-04       Impact factor: 3.593
  4 in total

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