Literature DB >> 26560832

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.

Rola Ba-Abbad1, Gavin Arno1, Keren Carss2, Kathleen Stirrups2, Christopher J Penkett2, Anthony T Moore3, Michel Michaelides1, F Lucy Raymond4, Andrew R Webster1, Graham E Holder5.   

Abstract

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Year:  2015        PMID： 26560832     DOI： 10.1016/j.ophtha.2015.09.045

Source DB:  PubMed          Journal:  Ophthalmology        ISSN： 0161-6420            Impact factor:   12.079


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  15 in total

Review 1.  Emerging roles for α2δ subunits in calcium channel function and synaptic connectivity.

Authors:  William Christopher Risher; Cagla Eroglu
Journal:  Curr Opin Neurobiol       Date:  2020-06-07       Impact factor: 6.627

2.  The Auxiliary Calcium Channel Subunit α2δ4 Is Required for Axonal Elaboration, Synaptic Transmission, and Wiring of Rod Photoreceptors.

Authors:  Yuchen Wang; Katherine E Fehlhaber; Ignacio Sarria; Yan Cao; Norianne T Ingram; Debbie Guerrero-Given; Ben Throesch; Kristin Baldwin; Naomi Kamasawa; Toshihisa Ohtsuka; Alapakkam P Sampath; Kirill A Martemyanov
Journal:  Neuron       Date:  2017-03-02       Impact factor: 17.173

Review 3.  Voltage-Gated Calcium Channels: Key Players in Sensory Coding in the Retina and the Inner Ear.

Authors:  Tina Pangrsic; Joshua H Singer; Alexandra Koschak
Journal:  Physiol Rev       Date:  2018-10-01       Impact factor: 37.312

4.  α2δ-4 Is Required for the Molecular and Structural Organization of Rod and Cone Photoreceptor Synapses.

Authors:  Vasily Kerov; Joseph G Laird; Mei-Ling Joiner; Sharmon Knecht; Daniel Soh; Jussara Hagen; Sarah H Gardner; Wade Gutierrez; Takeshi Yoshimatsu; Sajag Bhattarai; Teresa Puthussery; Nikolai O Artemyev; Arlene V Drack; Rachel O Wong; Sheila A Baker; Amy Lee
Journal:  J Neurosci       Date:  2018-06-06       Impact factor: 6.167

5.  Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Authors:  Keren J Carss; Gavin Arno; Marie Erwood; Jonathan Stephens; Alba Sanchis-Juan; Sarah Hull; Karyn Megy; Detelina Grozeva; Eleanor Dewhurst; Samantha Malka; Vincent Plagnol; Christopher Penkett; Kathleen Stirrups; Roberta Rizzo; Genevieve Wright; Dragana Josifova; Maria Bitner-Glindzicz; Richard H Scott; Emma Clement; Louise Allen; Ruth Armstrong; Angela F Brady; Jenny Carmichael; Manali Chitre; Robert H H Henderson; Jane Hurst; Robert E MacLaren; Elaine Murphy; Joan Paterson; Elisabeth Rosser; Dorothy A Thompson; Emma Wakeling; Willem H Ouwehand; Michel Michaelides; Anthony T Moore; Andrew R Webster; F Lucy Raymond
Journal:  Am J Hum Genet       Date:  2016-12-29       Impact factor: 11.025

6.  Novel compound heterozygous missense variants (c.G955A and c.A1822C) of CACNA2D4 likely causing autosomal recessive retinitis pigmentosa in a Chinese patient.

Authors:  Jingliang Cheng; Qi Zhou; Jiewen Fu; Chunli Wei; Lianmei Zhang; Md Shamsuddin Sultan Khan; Hongbin Lv; Songyot Anuchapreeda; Junjiang Fu
Journal:  3 Biotech       Date:  2021-04-10       Impact factor: 2.406

7.  Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.

Authors:  Marianne N Hove; Kevser Z Kilic-Biyik; Alana Trotter; Karen Grønskov; Birgit Sander; Michael Larsen; Joseph Carroll; Torben Bech-Hansen; Thomas Rosenberg
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-12-01       Impact factor: 4.799

Review 8.  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

9.  Whole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.

Authors:  Kevin Gustafson; Jacque L Duncan; Pooja Biswas; Angel Soto-Hermida; Hiroko Matsui; David Jakubosky; John Suk; Amalio Telenti; Kelly A Frazer; Radha Ayyagari
Journal:  Genes (Basel)       Date:  2017-08-24       Impact factor: 4.096

Review 10.  Ocular genetics in the genomics age.

Authors:  Michael A Walter; Tayebeh Rezaie; Robert B Hufnagel; Gavin Arno
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-09-08       Impact factor: 3.359
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