Literature DB >> 20232414

KMeyeDB: a graphical database of mutations in genes that cause eye diseases.

Takashi Kawamura1, Masafumi Ohtsubo, Susumu Mitsuyama, Saho Ohno-Nakamura, Nobuyoshi Shimizu, Shinsei Minoshima.   

Abstract

KMeyeDB (http://mutview.dmb.med.keio.ac.jp/) is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser with smooth user-interface, without user registration. The results are displayed on the graphical windows together with statistical calculations. All mutations and associated data have been collected from published articles. Careful data analysis with KMeyeDB revealed many interesting features regarding the mutations in 167 genes that cause 326 different types of eye diseases. Some genes are involved in multiple types of eye diseases, whereas several eye diseases are caused by different mutations in one gene.

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Year:  2010        PMID: 20232414     DOI: 10.1002/humu.21240

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  4 in total

1.  Association between interleukin-10 genetic polymorphisms and risk of primary open angle glaucoma in a Chinese Han population: a case-control study.

Authors:  Yi-Hui Zhang; Yi-Qiao Xing; Zhen Chen; Xiao-Cheng Ma; Qiang Lu
Journal:  Int J Ophthalmol       Date:  2019-10-18       Impact factor: 1.779

2.  De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Authors:  Samuel P Strom; Michael J Clark; Ariadna Martinez; Sarah Garcia; Amira A Abelazeem; Anna Matynia; Sachin Parikh; Lori S Sullivan; Sara J Bowne; Stephen P Daiger; Michael B Gorin
Journal:  PLoS One       Date:  2016-03-10       Impact factor: 3.240

3.  'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration.

Authors:  Xia Ran; Wei-Jun Cai; Xiu-Feng Huang; Qi Liu; Fan Lu; Jia Qu; Jinyu Wu; Zi-Bing Jin
Journal:  Database (Oxford)       Date:  2014-06-17       Impact factor: 3.451

Review 4.  Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.

Authors:  Yuliya Markitantova; Vladimir Simirskii
Journal:  Int J Mol Sci       Date:  2020-02-26       Impact factor: 5.923

  4 in total

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