Literature DB >> 22306015

Confirmation of TBK1 duplication in normal tension glaucoma.

Kazuhide Kawase, R Rand Allingham, Akira Meguro, Nobuhisa Mizuki, Ben Roos, Frances M Solivan-Timpe, Alan L Robin, Robert Ritch, John H Fingert.   

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Year:  2012        PMID： 22306015      PMCID： PMC3296819          DOI： 10.1016/j.exer.2011.12.021

Source DB:  PubMed          Journal:  Exp Eye Res        ISSN： 0014-4835            Impact factor:   3.467


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  5 in total

1.  Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

Authors:  Tayebeh Rezaie; Anne Child; Roger Hitchings; Glen Brice; Lauri Miller; Miguel Coca-Prados; Elise Héon; Theodore Krupin; Robert Ritch; Donald Kreutzer; R Pitts Crick; Mansoor Sarfarazi
Journal:  Science       Date:  2002-02-08       Impact factor: 47.728

2.  Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Authors:  John H Fingert; Alan L Robin; Jennifer L Stone; Ben R Roos; Lea K Davis; Todd E Scheetz; Steve R Bennett; Thomas H Wassink; Young H Kwon; Wallace L M Alward; Robert F Mullins; Val C Sheffield; Edwin M Stone
Journal:  Hum Mol Genet       Date:  2011-03-29       Impact factor: 6.150

3.  Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.

Authors:  Sepideh Zareparsi; Monika Buraczynska; Kari E H Branham; Sapna Shah; Donna Eng; Mingyao Li; Hemant Pawar; Beverly M Yashar; Sayoko E Moroi; Paul R Lichter; Howard R Petty; Julia E Richards; Gonçalo R Abecasis; Victor M Elner; Anand Swaroop
Journal:  Hum Mol Genet       Date:  2005-04-13       Impact factor: 6.150

4.  Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

Authors:  W L Alward; J H Fingert; M A Coote; A T Johnson; S F Lerner; D Junqua; F J Durcan; P J McCartney; D A Mackey; V C Sheffield; E M Stone
Journal:  N Engl J Med       Date:  1998-04-09       Impact factor: 91.245

5.  Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.

Authors:  Simon Morton; Luke Hesson; Mark Peggie; Philip Cohen
Journal:  FEBS Lett       Date:  2008-02-26       Impact factor: 4.124
  5 in total
  31 in total

Review 1.  Genes, pathways, and animal models in primary open-angle glaucoma.

Authors:  A I Iglesias; H Springelkamp; W D Ramdas; C C W Klaver; R Willemsen; C M van Duijn
Journal:  Eye (Lond)       Date:  2015-08-28       Impact factor: 3.775

2.  Long-Term Follow-Up of Normal Tension Glaucoma Patients With TBK1 Gene Mutations in One Large Pedigree.

Authors:  Tyler S Quist; Chris A Johnson; Alan L Robin; John H Fingert
Journal:  Am J Ophthalmol       Date:  2020-01-24       Impact factor: 5.258

3.  Analysis of ASB10 variants in open angle glaucoma.

Authors:  John H Fingert; Ben R Roos; Frances Solivan-Timpe; Kathy A Miller; Thomas A Oetting; Kai Wang; Young H Kwon; Todd E Scheetz; Edwin M Stone; Wallace L M Alward
Journal:  Hum Mol Genet       Date:  2012-07-13       Impact factor: 6.150

4.  Progressive optic disc cupping over 20 years in a patient with TBK1-associated glaucoma.

Authors:  Nathan C Sears; Benjamin W Darbro; Wallace L M Alward; John H Fingert
Journal:  Ophthalmol Glaucoma       Date:  2019-11-16

5.  Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.

Authors:  Ralph J Hazlewood; Benjamin R Roos; Frances Solivan-Timpe; Robert A Honkanen; Lee M Jampol; Stephen C Gieser; Kacie J Meyer; Robert F Mullins; Markus H Kuehn; Todd E Scheetz; Young H Kwon; Wallace L M Alward; Edwin M Stone; John H Fingert
Journal:  Hum Mutat       Date:  2015-03       Impact factor: 4.878

6.  TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin.

Authors:  Lalit Kaurani; Mansi Vishal; Jharna Ray; Abhijit Sen; Kunal Ray; Arijit Mukhopadhyay
Journal:  J Genet       Date:  2016-06       Impact factor: 1.166

7.  Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).

Authors:  John H Fingert; Alan L Robin; Todd E Scheetz; Young H Kwon; Jeffrey M Liebmann; Robert Ritch; Wallace L M Alward
Journal:  Trans Am Ophthalmol Soc       Date:  2016-08

Review 8.  Major review: Molecular genetics of primary open-angle glaucoma.

Authors:  Yutao Liu; R Rand Allingham
Journal:  Exp Eye Res       Date:  2017-05-10       Impact factor: 3.467

9.  TBK1 and flanking genes in human retina.

Authors:  John H Fingert; Benjamin W Darbro; Qining Qian; Richard Van Rheeden; Kathy Miller; Megan Riker; Frances Solivan-Timpe; Ben R Roos; Alan L Robin; Robert F Mullins
Journal:  Ophthalmic Genet       Date:  2013-02-20       Impact factor: 1.803

10.  Identification of proteins that interact with TANK binding kinase 1 and testing for mutations associated with glaucoma.

Authors:  Seongjin Seo; Frances Solivan-Timpe; Ben R Roos; Alan L Robin; Edwin M Stone; Young H Kwon; Wallace L M Alward; John H Fingert
Journal:  Curr Eye Res       Date:  2013-01-03       Impact factor: 2.424
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