Literature DB >> 23647473

Genetics of human cataract.

A Shiels1, J F Hejtmancik.   

Abstract

The pathogenesis of inherited cataracts of all kinds recapitulates the developmental and cell biology of the lens. Just as each novel mutation provides additional information about the structural or functional biology of the affected gene, each newly identified gene provides insight into the developmental and cellular biology of the lens. The set of genes currently known to be associated with cataract is far from complete, especially for age-related cataract, and there is much additional information to be discovered through further genetic studies.
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  cataract; genetics; lens; mutations

Mesh：

Year:  2013        PMID： 23647473      PMCID： PMC3991604          DOI： 10.1111/cge.12182

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  41 in total

Review 1.  Oxidative stress and age-related cataract.

Authors:  S Ottonello; C Foroni; A Carta; S Petrucco; G Maraini
Journal:  Ophthalmologica       Date:  2000 Jan-Feb       Impact factor: 3.250

2.  Counterpoint: The lens fluid circulation model--a critical appraisal.

Authors:  David C Beebe; Roger J W Truscott
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-05       Impact factor: 4.799

3.  A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.

Authors:  Y Okano; M Asada; A Fujimoto; A Ohtake; K Murayama; K J Hsiao; K Choeh; Y Yang; Q Cao; J K Reichardt; S Niihira; T Imamura; T Yamano
Journal:  Am J Hum Genet       Date:  2001-02-23       Impact factor: 11.025

Review 4.  Lens crystallins: gene recruitment and evolutionary dynamism.

Authors:  G Wistow
Journal:  Trends Biochem Sci       Date:  1993-08       Impact factor: 13.807

Review 5.  Age-related nuclear cataract-oxidation is the key.

Authors:  Roger J W Truscott
Journal:  Exp Eye Res       Date:  2005-05       Impact factor: 3.467

6.  Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

Authors:  Salil A Lachke; Fowzan S Alkuraya; Stephen C Kneeland; Takbum Ohn; Anton Aboukhalil; Gareth R Howell; Irfan Saadi; Resy Cavallesco; Yingzi Yue; Anne C-H Tsai; K Saidas Nair; Mihai I Cosma; Richard S Smith; Emily Hodges; Suad M Alfadhli; Amal Al-Hajeri; Hanan E Shamseldin; Abdulmutalib Behbehani; Gregory J Hannon; Martha L Bulyk; Arlene V Drack; Paul J Anderson; Simon W M John; Richard L Maas
Journal:  Science       Date:  2011-03-25       Impact factor: 47.728

7.  Presenile cataract formation and decreased activity of galactosemic enzymes.

Authors:  H W Skalka; J T Prchal
Journal:  Arch Ophthalmol       Date:  1980-02

8.  Clinical detection of precataractous lens protein changes using dynamic light scattering.

Authors:  Manuel B Datiles; Rafat R Ansari; Kwang I Suh; Susan Vitale; George F Reed; J Samuel Zigler; Frederick L Ferris
Journal:  Arch Ophthalmol       Date:  2008-12

Review 9.  Genetics of crystallins: cataract and beyond.

Authors:  Jochen Graw
Journal:  Exp Eye Res       Date:  2008-11-01       Impact factor: 3.467

10.  EPHA2 is associated with age-related cortical cataract in mice and humans.

Authors:  Gyungah Jun; Hong Guo; Barbara E K Klein; Ronald Klein; Jie Jin Wang; Paul Mitchell; Hui Miao; Kristine E Lee; Tripti Joshi; Matthias Buck; Preeti Chugha; David Bardenstein; Alison P Klein; Joan E Bailey-Wilson; Xiaohua Gong; Tim D Spector; Toby Andrew; Christopher J Hammond; Robert C Elston; Sudha K Iyengar; Bingcheng Wang
Journal:  PLoS Genet       Date:  2009-07-31       Impact factor: 5.917
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  56 in total

Review 1.  Molecular Genetics of Cataract.

Authors:  Alan Shiels; J Fielding Hejtmancik
Journal:  Prog Mol Biol Transl Sci       Date:  2015-06-12       Impact factor: 3.622

2.  Deficiency of the RNA binding protein caprin2 causes lens defects and features of Peters anomaly.

Authors:  Soma Dash; Christine A Dang; David C Beebe; Salil A Lachke
Journal:  Dev Dyn       Date:  2015-08-07       Impact factor: 3.780

3.  Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.

Authors:  Smriti A Agrawal; Deepti Anand; Archana D Siddam; Atul Kakrana; Soma Dash; David A Scheiblin; Christine A Dang; Anne M Terrell; Stephanie M Waters; Abhyudai Singh; Hozumi Motohashi; Masayuki Yamamoto; Salil A Lachke
Journal:  Hum Genet       Date:  2015-04-21       Impact factor: 4.132

4.  Ophthalmology: Cataracts dissolved.

Authors:  J Fielding Hejtmancik
Journal:  Nature       Date:  2015-07-22       Impact factor: 49.962

5.  Novel mutations in CRYBB1/CRYBB2 identified by targeted exome sequencing in Chinese families with congenital cataract.

Authors:  Peng Chen; Hao Chen; Xiao-Jing Pan; Su-Zhen Tang; Yu-Jun Xia; Hui Zhang
Journal:  Int J Ophthalmol       Date:  2018-10-18       Impact factor: 1.779

6.  Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

Authors:  Owen M Siggs; Shari Javadiyan; Shiwani Sharma; Emmanuelle Souzeau; Karen M Lower; Deepa A Taranath; Jo Black; John Pater; John G Willoughby; Kathryn P Burdon; Jamie E Craig
Journal:  Eur J Hum Genet       Date:  2017-03-08       Impact factor: 4.246

7.  Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

Authors:  Nisha Patel; Deepti Anand; Dorota Monies; Sateesh Maddirevula; Arif O Khan; Talal Algoufi; Mohammed Alowain; Eissa Faqeih; Muneera Alshammari; Ahmed Qudair; Hadeel Alsharif; Fatimah Aljubran; Hessa S Alsaif; Niema Ibrahim; Firdous M Abdulwahab; Mais Hashem; Haifa Alsedairy; Mohammed A Aldahmesh; Salil A Lachke; Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-11-22       Impact factor: 4.132

8.  The E368Q Mutant Allele of GJA8 is Associated with Congenital Cataracts with Intrafamilial Variation in a South Indian Family.

Authors:  G Senthil Kumar; K Dinesh Kumar; P J Minogue; V M Berthoud; R Kannan; E C Beyer; S T Santhiya
Journal:  Open Access J Ophthalmol       Date:  2016-07-28

Review 9.  RNA-binding proteins in eye development and disease: implication of conserved RNA granule components.

Authors:  Soma Dash; Archana D Siddam; Carrie E Barnum; Sarath Chandra Janga; Salil A Lachke
Journal:  Wiley Interdiscip Rev RNA       Date:  2016-05-01       Impact factor: 9.957

10.  Transcriptome Profiling of Developing Murine Lens Through RNA Sequencing.

Authors:  Shahid Y Khan; Sean F Hackett; Mei-Chong W Lee; Nader Pourmand; C Conover Talbot; S Amer Riazuddin
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-07       Impact factor: 4.799
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