Literature DB >> 26310156

Molecular Genetics of Cataract.

Alan Shiels1, J Fielding Hejtmancik2.   

Abstract

Lens opacities or cataract(s) represent a universally important cause of visual impairment and blindness. Typically, cataract is acquired with aging as a complex disorder involving environmental and genetic risk factors. Cataract may also be inherited with an early onset either in association with other ocular and/or systemic abnormalities or as an isolated lens phenotype. Here we briefly review recent advances in gene discovery for inherited and age-related forms of cataract that are providing new insights into lens development and aging.
© 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Age-related; Cataract; Genes; Inherited

Mesh：

Substances：

Year:  2015        PMID： 26310156      PMCID： PMC5656277          DOI： 10.1016/bs.pmbts.2015.05.004

Source DB:  PubMed          Journal:  Prog Mol Biol Transl Sci        ISSN： 1877-1173            Impact factor:   3.622


  73 in total

1.  Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

Authors:  Jianjun Chen; Zhiwei Ma; Xiaodong Jiao; Robert Fariss; Wanda Lee Kantorow; Marc Kantorow; Eran Pras; Moshe Frydman; Elon Pras; Sheikh Riazuddin; S Amer Riazuddin; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

Review 2.  Genetic origins of cataract.

Authors:  Alan Shiels; J Fielding Hejtmancik
Journal:  Arch Ophthalmol       Date:  2007-02

3.  The ocular lens: a classic model for development, physiology and disease.

Authors:  I Michael Wormstone; Michael A Wride
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2011-04-27       Impact factor: 6.237

4.  Focus on molecules: lens intrinsic membrane protein (LIM2/MP20).

Authors:  Geoffrey J Maher; Graeme C Black; Forbes D Manson
Journal:  Exp Eye Res       Date:  2011-08-16       Impact factor: 3.467

Review 5.  Global estimates of visual impairment: 2010.

Authors:  Donatella Pascolini; Silvio Paolo Mariotti
Journal:  Br J Ophthalmol       Date:  2011-12-01       Impact factor: 4.638

6.  Temperature-dependent structural and functional properties of a mutant (F71L) αA-crystallin: molecular basis for early onset of age-related cataract.

Authors:  Vakdevi Validandi; V Sudhakar Reddy; P N B S Srinivas; Niklaus H Mueller; S G Bhagyalaxmi; T Padma; J Mark Petrash; G Bhanuprakash Reddy
Journal:  FEBS Lett       Date:  2011-11-11       Impact factor: 4.124

7.  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

8.  Apolipoprotein E genotype and risk for development of cataract and age-related macular degeneration.

Authors:  Øygunn A Utheim; Jon Ståle Ritland; Tor P Utheim; Thomas Espeseth; Stian Lydersen; Helge Rootwelt; Svein Ove Semb; Tor Elsås
Journal:  Acta Ophthalmol       Date:  2008-06       Impact factor: 3.761

9.  The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.

Authors:  Jeannette Abplanalp; Endre Laczko; Nancy J Philp; John Neidhardt; Jurian Zuercher; Philipp Braun; Daniel F Schorderet; Francis L Munier; François Verrey; Wolfgang Berger; Simone M R Camargo; Barbara Kloeckener-Gruissem
Journal:  Hum Mol Genet       Date:  2013-04-10       Impact factor: 6.150

10.  X-linked cataract and Nance-Horan syndrome are allelic disorders.

Authors:  Margherita Coccia; Simon P Brooks; Tom R Webb; Katja Christodoulou; Izabella O Wozniak; Victoria Murday; Martha Balicki; Harris A Yee; Teresia Wangensteen; Ruth Riise; Anand K Saggar; Soo-Mi Park; Naheed Kanuga; Peter J Francis; Eamonn R Maher; Anthony T Moore; Isabelle M Russell-Eggitt; Alison J Hardcastle
Journal:  Hum Mol Genet       Date:  2009-05-04       Impact factor: 6.150
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  26 in total

1.  Exome Array Analysis of Nuclear Lens Opacity.

Authors:  Stephanie J Loomis; Alison P Klein; Kristine E Lee; Fei Chen; Samantha Bomotti; Barbara Truitt; Sudha K Iyengar; Ronald Klein; Barbara E K Klein; Priya Duggal
Journal:  Ophthalmic Epidemiol       Date:  2017-11-28       Impact factor: 1.648

Review 2.  Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects.

Authors:  Deepti Anand; Smriti A Agrawal; Anne Slavotinek; Salil A Lachke
Journal:  Hum Mutat       Date:  2018-01-16       Impact factor: 4.878

3.  A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.

Authors:  Muhammad Ali; Shahid Y Khan; Tony A Rodrigues; Tânia Francisco; Xiaodong Jiao; Hang Qi; Firoz Kabir; Bushra Irum; Bushra Rauf; Asma A Khan; Azra Mehmood; Muhammad Asif Naeem; Muhammad Zaman Assir; Muhammad Hassaan Ali; Mohsin Shahzad; Khaled K Abu-Amero; Shehla Javed Akram; Javed Akram; Sheikh Riazuddin; Saima Riazuddin; Michael L Robinson; Myriam Baes; Jorge E Azevedo; J Fielding Hejtmancik; S Amer Riazuddin
Journal:  Hum Genet       Date:  2021-01-02       Impact factor: 4.132

4.  Observation of Visual Quality after Femtosecond Laser-Assisted Cataract Surgery Combined with Trifocal Intraocular Lens Implantation.

Authors:  Jianli Ma; Xuequan Sun; Yang Liu; Yumei Liu
Journal:  Comput Math Methods Med       Date:  2022-07-01       Impact factor: 2.809

Review 5.  The zebrafish eye-a paradigm for investigating human ocular genetics.

Authors:  R Richardson; D Tracey-White; A Webster; M Moosajee
Journal:  Eye (Lond)       Date:  2016-09-09       Impact factor: 3.775

6.  Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Authors:  Hande Taylan Şekeroğlu; Gülen Eda Utine
Journal:  Turk J Ophthalmol       Date:  2021-04-29

Review 7.  Screening, genetics, risk factors, and treatment of neonatal cataracts.

Authors:  Jinyu Li; Chun-Hong Xia; Eddie Wang; Ke Yao; Xiaohua Gong
Journal:  Birth Defects Res       Date:  2017-05-22       Impact factor: 2.661

8.  Somatic Variants in the Human Lens Epithelium: A Preliminary Assessment.

Authors:  Rosana Mesa; Manoj Tyagi; George Harocopos; David Vollman; Steven Bassnett
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-08-01       Impact factor: 4.799

9.  Cataract-causing mutation S228P promotes βB1-crystallin aggregation and degradation by separating two interacting loops in C-terminal domain.

Authors:  Liang-Bo Qi; Li-Dan Hu; Huihui Liu; Hai-Yun Li; Xiao-Yao Leng; Yong-Bin Yan
Journal:  Protein Cell       Date:  2016-06-18       Impact factor: 14.870

10.  Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

Authors:  Caroline Lenfant; Patrick Baz; Anne Degavre; Anne Philippi; Valérie Senée; Claire Vandiedonck; Céline Derbois; Marc Nicolino; Pierre Zalloua; Cécile Julier
Journal:  Genes (Basel)       Date:  2017-11-07       Impact factor: 4.096
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