Literature DB >> 27350692

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

Lalit Kaurani1, Mansi Vishal, Jharna Ray, Abhijit Sen, Kunal Ray, Arijit Mukhopadhyay.   

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Year:  2016        PMID： 27350692     DOI： 10.1007/s12041-016-0637-y

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  13 in total

1.  Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.

Authors:  K J Livak; T D Schmittgen
Journal:  Methods       Date:  2001-12       Impact factor: 3.608

2.  Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.

Authors:  Lalit Kaurani; Mansi Vishal; Dhirendra Kumar; Anchal Sharma; Bharati Mehani; Charu Sharma; Subhadip Chakraborty; Pankaj Jha; Jharna Ray; Abhijit Sen; Debasis Dash; Kunal Ray; Arijit Mukhopadhyay
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-04-24       Impact factor: 4.799

3.  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

Review 4.  The vast complexity of primary open angle glaucoma: disease genes, risks, molecular mechanisms and pathobiology.

Authors:  Sarah F Janssen; Theo G M F Gorgels; Wishal D Ramdas; Caroline C W Klaver; Cornelia M van Duijn; Nomdo M Jansonius; Arthur A B Bergen
Journal:  Prog Retin Eye Res       Date:  2013-09-19       Impact factor: 21.198

5.  Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

Authors:  Axel Freischmidt; Thomas Wieland; Benjamin Richter; Wolfgang Ruf; Veronique Schaeffer; Kathrin Müller; Nicolai Marroquin; Frida Nordin; Annemarie Hübers; Patrick Weydt; Susana Pinto; Rayomond Press; Stéphanie Millecamps; Nicolas Molko; Emilien Bernard; Claude Desnuelle; Marie-Hélène Soriani; Johannes Dorst; Elisabeth Graf; Ulrika Nordström; Marisa S Feiler; Stefan Putz; Tobias M Boeckers; Thomas Meyer; Andrea S Winkler; Juliane Winkelman; Mamede de Carvalho; Dietmar R Thal; Markus Otto; Thomas Brännström; Alexander E Volk; Petri Kursula; Karin M Danzer; Peter Lichtner; Ivan Dikic; Thomas Meitinger; Albert C Ludolph; Tim M Strom; Peter M Andersen; Jochen H Weishaupt
Journal:  Nat Neurosci       Date:  2015-03-24       Impact factor: 24.884

6.  Network analysis of human glaucomatous optic nerve head astrocytes.

Authors:  Tatiana Nikolskaya; Yuri Nikolsky; Tatiana Serebryiskaya; Svetlana Zvereva; Eugene Sviridov; Zoltan Dezso; Eugene Rahkmatulin; Richard J Brennan; Nick Yankovsky; Sanjoy K Bhattacharya; Olga Agapova; M Rosario Hernandez; Valery I Shestopalov
Journal:  BMC Med Genomics       Date:  2009-05-09       Impact factor: 3.063

7.  The number of people with glaucoma worldwide in 2010 and 2020.

Authors:  H A Quigley; A T Broman
Journal:  Br J Ophthalmol       Date:  2006-03       Impact factor: 4.638

8.  Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.

Authors:  Mona S Awadalla; John H Fingert; Benjamin E Roos; Simon Chen; Richard Holmes; Stuart L Graham; Mark Chehade; Anna Galanopolous; Bronwyn Ridge; Emmanuelle Souzeau; Tiger Zhou; Owen M Siggs; Alex W Hewitt; David A Mackey; Kathryn P Burdon; Jamie E Craig
Journal:  Am J Ophthalmol       Date:  2014-10-02       Impact factor: 5.258

9.  Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.

Authors:  Yuriko Minegishi; Daisuke Iejima; Hiroaki Kobayashi; Zai-Long Chi; Kazuhide Kawase; Tetsuya Yamamoto; Tomohisa Seki; Shinsuke Yuasa; Keiichi Fukuda; Takeshi Iwata
Journal:  Hum Mol Genet       Date:  2013-05-12       Impact factor: 6.150

10.  TBK1 gene duplication and normal-tension glaucoma.

Authors:  Robert Ritch; Ben Darbro; Geeta Menon; Cheryl L Khanna; Frances Solivan-Timpe; Ben R Roos; Mansoor Sarfarzi; Kazuhide Kawase; Tetsuya Yamamoto; Alan L Robin; Andrew J Lotery; John H Fingert
Journal:  JAMA Ophthalmol       Date:  2014-05       Impact factor: 7.389
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  4 in total

1.  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

2.  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

Review 3.  Regulatory mechanisms of retinal ganglion cell death in normal tension glaucoma and potential therapies.

Authors:  Wen-Cui Shen; Bing-Qing Huang; Jin Yang
Journal:  Neural Regen Res       Date:  2023-01       Impact factor: 6.058

4.  Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.

Authors:  Adam P DeLuca; Wallace L M Alward; Jeffrey Liebmann; Robert Ritch; Kazuhide Kawase; Young H Kwon; Alan L Robin; Edwin M Stone; Todd E Scheetz; John H Fingert
Journal:  J Glaucoma       Date:  2017-12       Impact factor: 2.503
  4 in total

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