Literature DB >> 25237143

Common and rare genetic risk factors for glaucoma.

Ryan Wang1, Janey L Wiggs1.   

Abstract

The characterization of genes responsible for glaucoma is the critical first step toward the development of gene-based diagnostic and screening tests, which could identify individuals at risk for disease before irreversible optic nerve damage occurs. Early-onset forms of glaucoma affecting children and young adults are typically inherited as Mendelian autosomal dominant or recessive traits whereas glaucoma affecting older adults has complex inheritance. In this report, we present a comprehensive overview of the genes and genomic regions contributing to inherited glaucoma.
Copyright © 2014 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2014        PMID: 25237143      PMCID: PMC4292091          DOI: 10.1101/cshperspect.a017244

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN: 2157-1422            Impact factor:   6.915


  108 in total

1.  Presence of oestrogen receptor type beta in human retina.

Authors:  C Munaut; V Lambert; A Noël; F Frankenne; M Deprez; J M Foidart; J M Rakic
Journal:  Br J Ophthalmol       Date:  2001-07       Impact factor: 4.638

2.  The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness.

Authors:  Jac Charlesworth; Patricia L Kramer; Tom Dyer; Victor Diego; John R Samples; Jamie E Craig; David A Mackey; Alex W Hewitt; John Blangero; Mary K Wirtz
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-17       Impact factor: 4.799

3.  Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Authors:  Melanie Hingorani; Kathleen A Williamson; Anthony T Moore; Veronica van Heyningen
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-02-14       Impact factor: 4.799

4.  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

5.  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

6.  Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Authors:  Yi Lu; Veronique Vitart; Kathryn P Burdon; Chiea Chuen Khor; Yelena Bykhovskaya; Alireza Mirshahi; Alex W Hewitt; Demelza Koehn; Pirro G Hysi; Wishal D Ramdas; Tanja Zeller; Eranga N Vithana; Belinda K Cornes; Wan-Ting Tay; E Shyong Tai; Ching-Yu Cheng; Jianjun Liu; Jia-Nee Foo; Seang Mei Saw; Gudmar Thorleifsson; Kari Stefansson; David P Dimasi; Richard A Mills; Jenny Mountain; Wei Ang; René Hoehn; Virginie J M Verhoeven; Franz Grus; Roger Wolfs; Raphaële Castagne; Karl J Lackner; Henriët Springelkamp; Jian Yang; Fridbert Jonasson; Dexter Y L Leung; Li J Chen; Clement C Y Tham; Igor Rudan; Zoran Vatavuk; Caroline Hayward; Jane Gibson; Angela J Cree; Alex MacLeod; Sarah Ennis; Ozren Polasek; Harry Campbell; James F Wilson; Ananth C Viswanathan; Brian Fleck; Xiaohui Li; David Siscovick; Kent D Taylor; Jerome I Rotter; Seyhan Yazar; Megan Ulmer; Jun Li; Brian L Yaspan; Ayse B Ozel; Julia E Richards; Sayoko E Moroi; Jonathan L Haines; Jae H Kang; Louis R Pasquale; R Rand Allingham; Allison Ashley-Koch; Paul Mitchell; Jie Jin Wang; Alan F Wright; Craig Pennell; Timothy D Spector; Terri L Young; Caroline C W Klaver; Nicholas G Martin; Grant W Montgomery; Michael G Anderson; Tin Aung; Colin E Willoughby; Janey L Wiggs; Chi P Pang; Unnur Thorsteinsdottir; Andrew J Lotery; Christopher J Hammond; Cornelia M van Duijn; Michael A Hauser; Yaron S Rabinowitz; Norbert Pfeiffer; David A Mackey; Jamie E Craig; Stuart Macgregor; Tien Y Wong
Journal:  Nat Genet       Date:  2013-01-06       Impact factor: 38.330

7.  Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis.

Authors:  Gary Hin-Fai Yam; Katarina Gaplovska-Kysela; Christian Zuber; Jürgen Roth
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-04       Impact factor: 4.799

8.  Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.

Authors:  R E Swiderski; R S Reiter; D Y Nishimura; W L Alward; J W Kalenak; C S Searby; E M Stone; V C Sheffield; J J Lin
Journal:  Dev Dyn       Date:  1999-09       Impact factor: 3.780

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

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

10.  Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma.

Authors:  Dan Yi Wang; Bao Jian Fan; Oscar Canlas; Pancy O S Tam; Robert Ritch; Dennis S C Lam; Dorothy S P Fan; Chi Pui Pang
Journal:  Mol Vis       Date:  2004-11-09       Impact factor: 2.367

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  22 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.  Differentially expressed microRNAs in the aqueous humor of patients with exfoliation glaucoma or primary open-angle glaucoma.

Authors:  Michelle D Drewry; Pratap Challa; John G Kuchtey; Iris Navarro; Inas Helwa; Yanzhong Hu; Hongmei Mu; W Daniel Stamer; Rachel W Kuchtey; Yutao Liu
Journal:  Hum Mol Genet       Date:  2018-04-01       Impact factor: 6.150

3.  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

4.  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

Review 5.  Caveolins and caveolae in ocular physiology and pathophysiology.

Authors:  Xiaowu Gu; Alaina M Reagan; Mark E McClellan; Michael H Elliott
Journal:  Prog Retin Eye Res       Date:  2016-09-21       Impact factor: 21.198

6.  Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.

Authors:  Meha Kabra; Wei Zhang; Sonika Rathi; Anil K Mandal; Sirisha Senthil; Goutham Pyatla; Muralidhar Ramappa; Seema Banerjee; Konegari Shekhar; Srinivas Marmamula; Asha L Mettla; Inderjeet Kaur; Rohit C Khanna; Hemant Khanna; Subhabrata Chakrabarti
Journal:  Hum Genet       Date:  2017-06-15       Impact factor: 4.132

7.  The African Descent and Glaucoma Evaluation Study (ADAGES) III: Contribution of Genotype to Glaucoma Phenotype in African Americans: Study Design and Baseline Data.

Authors:  Linda M Zangwill; Radha Ayyagari; Jeffrey M Liebmann; Christopher A Girkin; Robert Feldman; Harvey Dubiner; Keri A Dirkes; Matthew Holmann; Eunice Williams-Steppe; Naama Hammel; Luke J Saunders; Suzanne Vega; Kevin Sandow; Kathryn Roll; Rigby Slight; Daniel Auerbach; Brian C Samuels; Joseph F Panarelli; John P Mitchell; Lama A Al-Aswad; Sung Chul Park; Celso Tello; Jeremy Cotliar; Rajendra Bansal; Paul A Sidoti; George A Cioffi; Dana Blumberg; Robert Ritch; Nicholas P Bell; Lauren S Blieden; Garvin Davis; Felipe A Medeiros; Maggie C Y Ng; Swapan K Das; Nicholette D Palmer; Jasmin Divers; Carl D Langefeld; Barry I Freedman; Donald W Bowden; Mark A Christopher; Yii-der I Chen; Xiuqing Guo; Kent D Taylor; Jerome I Rotter; Robert N Weinreb
Journal:  Ophthalmology       Date:  2018-02-01       Impact factor: 12.079

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

Review 9.  Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.

Authors:  Keri F Allen; Eric D Gaier; Janey L Wiggs
Journal:  Cold Spring Harb Perspect Med       Date:  2015-07-01       Impact factor: 6.915

10.  Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree.

Authors:  Kathryn Hendee; Lauren Weiping Wang; Linda M Reis; Gregory M Rice; Suneel S Apte; Elena V Semina
Journal:  Hum Mutat       Date:  2017-08-01       Impact factor: 4.878

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