Literature DB >> 25010528

Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences.

Samuel G Jacobson1, Artur V Cideciyan1, Alexander Sumaroka1, Alejandro J Roman1, Alan F Wright2.   

Abstract

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Year:  2014        PMID： 25010528      PMCID： PMC4973865          DOI： 10.1001/jamaophthalmol.2014.2059

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  6 in total

1.  The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.

Authors:  Ajoy Vincent; Francis L Munier; Cynthia C Vandenhoven; Tom Wright; Carol A Westall; Elise Héon
Journal:  Retina       Date:  2012-09       Impact factor: 4.256

2.  VITAMIN A DEFICIENCY AND NIGHT BLINDNESS.

Authors:  J E Dowling; G Wald
Journal:  Proc Natl Acad Sci U S A       Date:  1958-07-15       Impact factor: 11.205

3.  Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.

Authors:  Xiongying Tu; Krzysztof Palczewski
Journal:  J Struct Biol       Date:  2012-08-07       Impact factor: 2.867

4.  Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.

Authors:  C A Kuntz; S G Jacobson; A V Cideciyan; Z Y Li; E M Stone; D Possin; A H Milam
Journal:  Invest Ophthalmol Vis Sci       Date:  1996-08       Impact factor: 4.799

5.  Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).

Authors:  Vasileios Soumplis; Panagiotis I Sergouniotis; Anthony G Robson; Michel Michaelides; Anthony T Moore; Graham E Holder; Andrew R Webster
Journal:  Acta Ophthalmol       Date:  2013-01-07       Impact factor: 3.761

6.  Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.

Authors:  Caroline Hayward; Xinhua Shu; Artur V Cideciyan; Alan Lennon; Perdita Barran; Sepideh Zareparsi; Lindsay Sawyer; Grace Hendry; Baljean Dhillon; Ann H Milam; Philip J Luthert; Anand Swaroop; Nicholas D Hastie; Samuel G Jacobson; Alan F Wright
Journal:  Hum Mol Genet       Date:  2003-08-27       Impact factor: 6.150
  6 in total
  9 in total

1.  Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.

Authors:  Kazushige Tsunoda; Kaoru Fujinami; Kazutoshi Yoshitake; Takeshi Iwata
Journal:  Doc Ophthalmol       Date:  2019-07-08       Impact factor: 2.379

2.  Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium.

Authors:  Astra Dinculescu; Seok-Hong Min; Frank M Dyka; Wen-Tao Deng; Rachel M Stupay; Vince Chiodo; W Clay Smith; William W Hauswirth
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-10       Impact factor: 4.799

3.  Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.

Authors:  Nicole M Fuerst; Leona Serrano; Grace Han; Jessica I W Morgan; Albert M Maguire; Bart P Leroy; Benjamin J Kim; Tomas S Aleman
Journal:  Ophthalmic Genet       Date:  2016-03-30       Impact factor: 1.803

4.  Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores.

Authors:  Artur V Cideciyan; Malgorzata Swider; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-05       Impact factor: 4.799

5.  Reticular Pseudodrusen in Late-Onset Retinal Degeneration.

Authors:  Shyamanga Borooah; Vasileios Papastavrou; Leonardo Lando; Jonathan Han; Jonathan H Lin; Radha Ayyagari; Baljean Dhillon; Andrew C Browning
Journal:  Ophthalmol Retina       Date:  2020-12-22

6.  Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.

Authors:  Chloe M Stanton; Shyamanga Borooah; Camilla Drake; Joseph A Marsh; Susan Campbell; Alan Lennon; Dinesh C Soares; Neeru A Vallabh; Jayashree Sahni; Artur V Cideciyan; Baljean Dhillon; Veronique Vitart; Samuel G Jacobson; Alan F Wright; Caroline Hayward
Journal:  Sci Rep       Date:  2017-09-22       Impact factor: 4.379

7.  Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.

Authors:  Ulrich Kellner; Nicole Weisschuh; Silke Weinitz; Ghazaleh Farmand; Sebastian Deutsch; Friederike Kortüm; Pascale Mazzola; Karin Schäferhoff; Valerio Marino; Daniele Dell'Orco
Journal:  Int J Mol Sci       Date:  2021-02-19       Impact factor: 5.923

8.  AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.

Authors:  Kiyoharu J Miyagishima; Ruchi Sharma; Malika Nimmagadda; Katharina Clore-Gronenborn; Zoya Qureshy; Davide Ortolan; Devika Bose; Mitra Farnoodian; Congxiao Zhang; Andrew Fausey; Yuri V Sergeev; Mones Abu-Asab; Bokkyoo Jun; Khanh V Do; Marie-Audrey Kautzman Guerin; Jorgelina Calandria; Aman George; Bin Guan; Qin Wan; Rachel C Sharp; Catherine Cukras; Paul A Sieving; Robert B Hufnagel; Nicolas G Bazan; Kathleen Boesze-Battaglia; Sheldon Miller; Kapil Bharti
Journal:  Commun Biol       Date:  2021-12-09

Review 9.  Late-Onset Retinal Degeneration: Clinical Perspectives.

Authors:  Leonardo Lando; Shyamanga Borooah
Journal:  Clin Ophthalmol       Date:  2022-09-30
  9 in total

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