Literature DB >> 9697688

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma.

J Morissette, C Clépet, S Moisan, S Dubois, E Winstall, D Vermeeren, T D Nguyen, J R Polansky, G Côté, J L Anctil, M Amyot, M Plante, P Falardeau, V Raymond.   

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Year:  1998        PMID： 9697688     DOI： 10.1038/1203

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  30 in total

1.  Paget disease of bone: mapping of two loci at 5q35-qter and 5q31.

Authors:  N Laurin; J P Brown; A Lemainque; A Duchesne; D Huot; Y Lacourcière; G Drapeau; J Verreault; V Raymond; J Morissette
Journal:  Am J Hum Genet       Date:  2001-07-25       Impact factor: 11.025

2.  Aggregated myocilin induces russell bodies and causes apoptosis: implications for the pathogenesis of myocilin-caused primary open-angle glaucoma.

Authors:  Gary Hin-Fai Yam; Katarina Gaplovska-Kysela; Christian Zuber; Jürgen Roth
Journal:  Am J Pathol       Date:  2007-01       Impact factor: 4.307

3.  Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci.

Authors:  Moulinath Acharya; Arijit Mukhopadhyay; Ashima Bhattacharjee; Sanjay K D Thakur; Arun K Bandyopadhyay; Kunal Ray
Journal:  J Genet       Date:  2008-12       Impact factor: 1.166

Review 4.  Glaucoma genetics.

Authors:  Pratap Challa
Journal:  Int Ophthalmol Clin       Date:  2008

Review 5.  The effects of myocilin expression on functionally relevant trabecular meshwork genes: a mini-review.

Authors:  Teresa Borrás
Journal:  J Ocul Pharmacol Ther       Date:  2014-02-24       Impact factor: 2.671

6.  The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.

Authors:  J Nicole Burns; Katherine C Turnage; Chandler A Walker; Raquel L Lieberman
Journal:  Biochemistry       Date:  2011-06-09       Impact factor: 3.162

7.  Genetic screening in a large family with juvenile onset primary open angle glaucoma.

Authors:  A P Booth; R Anwar; H Chen; A J Churchill; J Jay; J Polansky; T Nguyen; A F Markham
Journal:  Br J Ophthalmol       Date:  2000-07       Impact factor: 4.638

8.  Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma.

Authors:  Gulab S Zode; Markus H Kuehn; Darryl Y Nishimura; Charles C Searby; Kabhilan Mohan; Sinisa D Grozdanic; Kevin Bugge; Michael G Anderson; Abbot F Clark; Edwin M Stone; Val C Sheffield
Journal:  J Clin Invest       Date:  2011-08-08       Impact factor: 14.808

9.  Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function.

Authors:  B S Kim; O V Savinova; M V Reedy; J Martin; Y Lun; L Gan; R S Smith; S I Tomarev; S W John; R L Johnson
Journal:  Mol Cell Biol       Date:  2001-11       Impact factor: 4.272

10.  The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.

Authors:  Inbal Avisar; Moshe Lusky; Anat Robinson; Mordechai Shohat; Stéphane Dubois; Vincent Raymond; Dan D Gaton
Journal:  Mol Vis       Date:  2009-09-24       Impact factor: 2.367
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