Literature DB >> 20811162

Glaucoma: genes, phenotypes, and new directions for therapy.

Bao Jian Fan1, Janey L Wiggs.   

Abstract

Glaucoma, a leading cause of blindness worldwide, is characterized by progressive optic nerve damage, usually associated with intraocular pressure. Although the clinical progression of the disease is well defined, the molecular events responsible for glaucoma are currently poorly understood and current therapeutic strategies are not curative. This review summarizes the human genetics and genomic approaches that have shed light on the complex inheritance of glaucoma genes and the potential for gene-based and cellular therapies that this research makes possible.

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Year:  2010        PMID: 20811162      PMCID: PMC2929733          DOI: 10.1172/JCI43085

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  142 in total

1.  GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36.

Authors:  M K Wirtz; J R Samples; K Rust; J Lie; L Nordling; K Schilling; T S Acott; P L Kramer
Journal:  Arch Ophthalmol       Date:  1999-02

Review 2.  What are the biomarkers for glaucoma?

Authors:  Olga Golubnitschaja; Josef Flammer
Journal:  Surv Ophthalmol       Date:  2007-11       Impact factor: 6.048

3.  Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

Authors:  S D Dreyer; G Zhou; A Baldini; A Winterpacht; B Zabel; W Cole; R L Johnson; B Lee
Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

4.  The distinction between juvenile and adult-onset primary open-angle glaucoma.

Authors:  J L Wiggs; K F Damji; J L Haines; M A Pericak-Vance; R R Allingham
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

5.  Polymorphism of beta-adrenergic receptors and susceptibility to open-angle glaucoma.

Authors:  Yoko Inagaki; Yukihiko Mashima; Nobuo Fuse; Tomoyo Funayama; Yuichiro Ohtake; Noriko Yasuda; Akira Murakami; Yoshihiro Hotta; Takeo Fukuchi; Kazuo Tsubota
Journal:  Mol Vis       Date:  2006-06-12       Impact factor: 2.367

6.  Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

Authors:  J L Wiggs; D Vollrath
Journal:  Arch Ophthalmol       Date:  2001-11

7.  A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma.

Authors:  Barbara Nemesure; Xiaodong Jiao; Qimei He; M Cristina Leske; Suh-Yuh Wu; Anselm Hennis; Nancy Mendell; Joy Redman; Henri-Jean Garchon; Richa Agarwala; Alejandro A Schäffer; Fielding Hejtmancik
Journal:  Hum Genet       Date:  2003-03-04       Impact factor: 4.132

8.  Retinal nerve fiber layer imaging with spectral-domain optical coherence tomography a study on diagnostic agreement with Heidelberg Retinal Tomograph.

Authors:  Christopher Kai-shun Leung; Cong Ye; Robert N Weinreb; Carol Yim Lui Cheung; Quanliang Qiu; Shu Liu; Guihua Xu; Dennis Shun Chiu Lam
Journal:  Ophthalmology       Date:  2009-12-06       Impact factor: 12.079

9.  Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.

Authors:  Francesca Pasutto; Tomoya Matsumoto; Christian Y Mardin; Heinrich Sticht; Johann H Brandstätter; Karin Michels-Rautenstrauss; Nicole Weisschuh; Eugen Gramer; Wishal D Ramdas; Leonieke M E van Koolwijk; Caroline C W Klaver; Johannes R Vingerling; Bernhard H F Weber; Friedrich E Kruse; Bernd Rautenstrauss; Yves-Alain Barde; André Reis
Journal:  Am J Hum Genet       Date:  2009-09-17       Impact factor: 11.025

10.  Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study.

Authors:  Barbara E K Klein; Ronald Klein; Kristine E Lee
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-01       Impact factor: 4.799

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  65 in total

1.  A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.

Authors:  Xiaohui Li; Yelena Bykhovskaya; Talin Haritunians; David Siscovick; Anthony Aldave; Loretta Szczotka-Flynn; Sudha K Iyengar; Jerome I Rotter; Kent D Taylor; Yaron S Rabinowitz
Journal:  Hum Mol Genet       Date:  2011-10-06       Impact factor: 6.150

2.  An eye for discovery.

Authors:  Andreas Stahl; Lois E H Smith
Journal:  J Clin Invest       Date:  2010-09-01       Impact factor: 14.808

3.  Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.

Authors:  Yutao Liu; Michael A Hauser; Stephen K Akafo; Xuejun Qin; Shiroh Miura; Jason R Gibson; Joshua Wheeler; Douglas E Gaasterland; Pratap Challa; Leon W Herndon; Robert Ritch; Sayoko E Moroi; Louis R Pasquale; Christopher A Girkin; Donald L Budenz; Janey L Wiggs; Julia E Richards; Allison E Ashley-Koch; R Rand Allingham
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-09-17       Impact factor: 4.799

4.  Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

Authors:  Janey L Wiggs; Anne M Langgurth; Keri F Allen
Journal:  Trans Am Ophthalmol Soc       Date:  2014-07

5.  Lymphatic regulator PROX1 determines Schlemm's canal integrity and identity.

Authors:  Dae-Young Park; Junyeop Lee; Intae Park; Dongwon Choi; Sunju Lee; Sukhyun Song; Yoonha Hwang; Ki Yong Hong; Yoshikazu Nakaoka; Taija Makinen; Pilhan Kim; Kari Alitalo; Young-Kwon Hong; Gou Young Koh
Journal:  J Clin Invest       Date:  2014-07-25       Impact factor: 14.808

6.  Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.

Authors:  Tomokazu Souma; Stuart W Tompson; Benjamin R Thomson; Owen M Siggs; Krishnakumar Kizhatil; Shinji Yamaguchi; Liang Feng; Vachiranee Limviphuvadh; Kristina N Whisenhunt; Sebastian Maurer-Stroh; Tammy L Yanovitch; Luba Kalaydjieva; Dimitar N Azmanov; Simone Finzi; Lucia Mauri; Shahrbanou Javadiyan; Emmanuelle Souzeau; Tiger Zhou; Alex W Hewitt; Bethany Kloss; Kathryn P Burdon; David A Mackey; Keri F Allen; Jonathan B Ruddle; Sing-Hui Lim; Steve Rozen; Khanh-Nhat Tran-Viet; Xiaorong Liu; Simon John; Janey L Wiggs; Francesca Pasutto; Jamie E Craig; Jing Jin; Susan E Quaggin; Terri L Young
Journal:  J Clin Invest       Date:  2016-06-06       Impact factor: 14.808

7.  Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA.

Authors:  Janey L Wiggs; Jae Hee Kang; Brian L Yaspan; Daniel B Mirel; Cathy Laurie; Andrew Crenshaw; Wendy Brodeur; Stephanie Gogarten; Lana M Olson; Wael Abdrabou; Elizabeth DelBono; Stephanie Loomis; Jonathan L Haines; Louis R Pasquale
Journal:  Hum Mol Genet       Date:  2011-08-26       Impact factor: 6.150

Review 8.  Paradigm Shifts in Ophthalmic Diagnostics.

Authors:  J Sebag; Alfredo A Sadun; Eric A Pierce
Journal:  Trans Am Ophthalmol Soc       Date:  2016-08

9.  Prevalence of glaucoma in an urban West African population: the Tema Eye Survey.

Authors:  Donald L Budenz; Keith Barton; Julia Whiteside-de Vos; Joyce Schiffman; Jagadeesh Bandi; Winifred Nolan; Leon Herndon; Hanna Kim; Graham Hay-Smith; James M Tielsch
Journal:  JAMA Ophthalmol       Date:  2013-05       Impact factor: 7.389

Review 10.  Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

Authors:  Mahavir Singh; Suresh C Tyagi
Journal:  Int J Ophthalmol       Date:  2018-01-18       Impact factor: 1.779

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