Literature DB >> 23713688

The golden era of ocular disease gene discovery: race to the finish.

A Swaroop1, P A Sieving.   

Abstract

Within the last decade, technological advances have led to amazing genetic insights into Mendelian and multifactorial ocular diseases. We provide a perspective of the progress in gene discovery and discuss the implications. We believe that the time has come to redefine the goals and begin utilizing the genetic knowledge for clinical management and treatment design. The unbelievable opportunities now exist for those nimble enough to seize them. Published 2013. This article is a U.S. Government work and is in the public domain in the USA.

Entities:  

Keywords:  clinical management; genetics; next-generation sequencing; ocular disease; therapies; vision

Mesh：

Year:  2013        PMID： 23713688      PMCID： PMC4240531          DOI： 10.1111/cge.12204

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  31 in total

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2.  Further evidence of exclusion of linkage between type II autosomal dominant retinitis pigmentosa (ADRP) and D3S47 on 3q.

Authors:  S H Blanton; A W Cottingham; N Giesenschlag; J R Heckenlively; P Humphries; S P Daiger
Journal:  Genomics       Date:  1990-09       Impact factor: 5.736

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Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

Review 4.  Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.

Authors:  Gregory M Cooper; Jay Shendure
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5.  Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.

Authors:  Samuel G Jacobson; Artur V Cideciyan; Ramakrishna Ratnakaram; Elise Heon; Sharon B Schwartz; Alejandro J Roman; Marc C Peden; Tomas S Aleman; Sanford L Boye; Alexander Sumaroka; Thomas J Conlon; Roberto Calcedo; Ji-Jing Pang; Kirsten E Erger; Melani B Olivares; Cristina L Mullins; Malgorzata Swider; Shalesh Kaushal; William J Feuer; Alessandro Iannaccone; Gerald A Fishman; Edwin M Stone; Barry J Byrne; William W Hauswirth
Journal:  Arch Ophthalmol       Date:  2011-09-12

6.  Complement factor H polymorphism and age-related macular degeneration.

Authors:  Albert O Edwards; Robert Ritter; Kenneth J Abel; Alisa Manning; Carolien Panhuysen; Lindsay A Farrer
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

7.  Complement factor H variant increases the risk of age-related macular degeneration.

Authors:  Jonathan L Haines; Michael A Hauser; Silke Schmidt; William K Scott; Lana M Olson; Paul Gallins; Kylee L Spencer; Shu Ying Kwan; Maher Noureddine; John R Gilbert; Nathalie Schnetz-Boutaud; Anita Agarwal; Eric A Postel; Margaret A Pericak-Vance
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

8.  A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

Authors:  Gregory S Hageman; Don H Anderson; Lincoln V Johnson; Lisa S Hancox; Andrew J Taiber; Lisa I Hardisty; Jill L Hageman; Heather A Stockman; James D Borchardt; Karen M Gehrs; Richard J H Smith; Giuliana Silvestri; Stephen R Russell; Caroline C W Klaver; Irene Barbazetto; Stanley Chang; Lawrence A Yannuzzi; Gaetano R Barile; John C Merriam; R Theodore Smith; Adam K Olsh; Julie Bergeron; Jana Zernant; Joanna E Merriam; Bert Gold; Michael Dean; Rando Allikmets
Journal:  Proc Natl Acad Sci U S A       Date:  2005-05-03       Impact factor: 11.205

9.  Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

Authors:  Artur V Cideciyan; Samuel G Jacobson; William A Beltran; Alexander Sumaroka; Malgorzata Swider; Simone Iwabe; Alejandro J Roman; Melani B Olivares; Sharon B Schwartz; András M Komáromy; William W Hauswirth; Gustavo D Aguirre
Journal:  Proc Natl Acad Sci U S A       Date:  2013-01-22       Impact factor: 11.205

10.  Assuring the quality of next-generation sequencing in clinical laboratory practice.

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Journal:  Nat Biotechnol       Date:  2012-11       Impact factor: 54.908
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  7 in total

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Review 2.  Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research.

Authors:  Vijender Chaitankar; Gökhan Karakülah; Rinki Ratnapriya; Felipe O Giuste; Matthew J Brooks; Anand Swaroop
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Review 3.  Age-related macular degeneration: genetics and biology coming together.

Authors:  Lars G Fritsche; Robert N Fariss; Dwight Stambolian; Gonçalo R Abecasis; Christine A Curcio; Anand Swaroop
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Review 4.  Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

Authors:  Shobi Veleri; Csilla H Lazar; Bo Chang; Paul A Sieving; Eyal Banin; Anand Swaroop
Journal:  Dis Model Mech       Date:  2015-02       Impact factor: 5.758

5.  Early Events in Retinal Degeneration Caused by Rhodopsin Mutation or Pigment Epithelium Malfunction: Differences and Similarities.

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Journal:  Front Neuroanat       Date:  2017-03-06       Impact factor: 3.856

Review 6.  Bone marrow-derived mononuclear stem cells in the treatment of retinal degenerations.

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7.  Efficient Delivery of Hydrophilic Small Molecules to Retinal Cell Lines Using Gel Core-Containing Solid Lipid Nanoparticles.

Authors:  Li Huang; Erico Himawan; Soumaya Belhadj; Raúl Oswaldo Pérez García; François Paquet Durand; Nicolaas Schipper; Matej Buzgo; Aiva Simaite; Valeria Marigo
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  7 in total

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