Literature DB >> 23615275

A novel nonsense mutation of the SLC4A11 gene in a Korean patient with autosomal recessive congenital hereditary endothelial dystrophy.

Shin Hae Park, Hyun Jin Jeong, Myungshin Kim, Man Soo Kim.   

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Year:  2013        PMID： 23615275     DOI： 10.1097/ICO.0b013e31828d9ffd

Source DB:  PubMed          Journal:  Cornea        ISSN： 0277-3740            Impact factor:   2.651


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  4 in total

1.  Congenital Corneal Endothelial Dystrophies Resulting From Novel De Novo Mutations.

Authors:  Khrishen Cunnusamy; Charles B Bowman; Walter Beebe; Xin Gong; R Nick Hogan; V Vinod Mootha
Journal:  Cornea       Date:  2016-02       Impact factor: 2.651

2.  Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.

Authors:  Nagasamy Soumittra; Sampath K Loganathan; Dharanija Madhavan; Vedam L Ramprasad; Tharigopala Arokiasamy; Sundaram Sumathi; Thirumalai Karthiyayini; Sudhir R Rachapalli; Govindasamy Kumaramanickavel; Joseph R Casey; Rama Rajagopal
Journal:  J Hum Genet       Date:  2014-07-10       Impact factor: 3.172

3.  Conditionally Immortal Slc4a11-/- Mouse Corneal Endothelial Cell Line Recapitulates Disrupted Glutaminolysis Seen in Slc4a11-/- Mouse Model.

Authors:  Wenlin Zhang; Diego G Ogando; Edward T Kim; Moon-Jung Choi; Hongde Li; Jason M Tenessen; Joseph A Bonanno
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-07-01       Impact factor: 4.799

4.  Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies.

Authors:  Wenlin Zhang; Ricardo Frausto; Doug D Chung; Christopher G Griffis; Liyo Kao; Angela Chen; Rustam Azimov; Alapakkam P Sampath; Ira Kurtz; Anthony J Aldave
Journal:  Invest Ophthalmol Vis Sci       Date:  2020-07-01       Impact factor: 4.799
  4 in total

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