Literature DB >> 12015279

Genetic modifiers of vision and hearing.

Neena B Haider1, Akihiro Ikeda, Jürgen K Naggert, Patsy M Nishina.   

Abstract

The identification of 'disease genes' and the mutations within them has greatly enhanced our understanding of normal function in the eye and ear. At the same time, it has become clear that these single-gene mutations must reside in a permissive genetic background for a disease phenotype to manifest. Segregating background genes can also modify the age of onset, rate of progression or severity of these diseases. These background genes that interact with the disease mutation and that are responsible for the specific phenotypes observed are commonly called genetic modifiers. Identification of these modifier genes may define the biological pathways that lead from the primary genetic defect to the aberrant phenotype. Once the identities of modifier genes that suppress vision or hearing loss become known, the door opens to new potential therapeutic targets, since these modifier genes may be more amenable to treatment than the primary mutant gene.

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Year:  2002        PMID: 12015279     DOI: 10.1093/hmg/11.10.1195

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  18 in total

Review 1.  Genetic factors modifying clinical expression of autosomal dominant RP.

Authors:  Stephen P Daiger; Suma P Shankar; Alice B Schindler; Lori S Sullivan; Sara J Bowne; Terri M King; E Warick Daw; Edwin M Stone; John R Heckenlively
Journal:  Adv Exp Med Biol       Date:  2006       Impact factor: 2.622

2.  Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis.

Authors:  Jungyeon Won; Jeremy R Charette; Vivek M Philip; Timothy M Stearns; Weidong Zhang; Jürgen K Naggert; Mark P Krebs; Patsy M Nishina
Journal:  Exp Eye Res       Date:  2013-11-04       Impact factor: 3.467

3.  Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.

Authors:  Yoshihiro Noguchi; Kiyoto Kurima; Tomoko Makishima; Martin Hrabé de Angelis; Helmut Fuchs; Gregory Frolenkov; Ken Kitamura; Andrew J Griffith
Journal:  Genetics       Date:  2006-04-28       Impact factor: 4.562

Review 4.  Strain background effects and genetic modifiers of hearing in mice.

Authors:  Kenneth R Johnson; Qing Yin Zheng; Konrad Noben-Trauth
Journal:  Brain Res       Date:  2006-03-31       Impact factor: 3.252

5.  Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease. Variability in familial Parkinson's disease.

Authors:  K Markopoulou; D W Dickson; R D McComb; Z K Wszolek; L Katechalidou; L Avery; M S Stansbury; B A Chase
Journal:  Acta Neuropathol       Date:  2008-04-04       Impact factor: 17.088

6.  Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity.

Authors:  Neena B Haider; Weidong Zhang; Ron Hurd; Akihiro Ikeda; Arne M Nystuen; Jürgen K Naggert; Patsy M Nishina
Journal:  Mamm Genome       Date:  2008-02-20       Impact factor: 2.957

7.  The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene.

Authors:  Anna L Shen; Kathleen A O'Leary; Richard R Dubielzig; Norman Drinkwater; Christopher J Murphy; Charles B Kasper; Christopher A Bradfield
Journal:  PLoS One       Date:  2010-08-16       Impact factor: 3.240

8.  Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa.

Authors:  Tetsuji Yamashita; Jiewu Liu; Jiangang Gao; Sean LeNoue; Changguan Wang; Jack Kaminoh; Sara J Bowne; Lori S Sullivan; Stephen P Daiger; Kang Zhang; Malinda E C Fitzgerald; Vladimir J Kefalov; Jian Zuo
Journal:  J Neurosci       Date:  2009-08-05       Impact factor: 6.167

9.  The severity of retinal degeneration in Rp1h gene-targeted mice is dependent on genetic background.

Authors:  Qin Liu; Alexei Saveliev; Eric A Pierce
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-12-05       Impact factor: 4.799

Review 10.  Recent advances in molecular genetics of glaucoma.

Authors:  Kunal Ray; Arijit Mukhopadhyay; Moulinath Acharya
Journal:  Mol Cell Biochem       Date:  2003-11       Impact factor: 3.396

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