Literature DB >> 25138764

Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy.

Vilavun Puangsricharern1, Patra Yeetong2, Chonthicha Charumalai3, Kanya Suphapeetiporn4, Vorasuk Shotelersuk4.   

Abstract

Entities:  

Keywords:  Cornea; Genetics

Mesh：

Substances：

Year:  2014        PMID： 25138764     DOI： 10.1136/bjophthalmol-2014-305584

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  5 in total

1.  Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies.

Authors:  Sampath K Loganathan; Hans-Peter Schneider; Patricio E Morgan; Joachim W Deitmer; Joseph R Casey
Journal:  Am J Physiol Cell Physiol       Date:  2016-08-24       Impact factor: 4.249

2.  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

3.  The cytoplasmic domain is essential for transport function of the integral membrane transport protein SLC4A11.

Authors:  Sampath K Loganathan; Chris M Lukowski; Joseph R Casey
Journal:  Am J Physiol Cell Physiol       Date:  2015-11-18       Impact factor: 4.249

4.  Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies.

Authors:  Darpan Malhotra; Sampath K Loganathan; Anthony M Chiu; Chris M Lukowski; Joseph R Casey
Journal:  Sci Rep       Date:  2019-07-04       Impact factor: 4.379

5.  Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy.

Authors:  Mohd Salman; Anshuman Verma; Sunita Chaurasia; Deeksha Prasad; Chitra Kannabiran; Vivek Singh; Muralidhar Ramappa
Journal:  Orphanet J Rare Dis       Date:  2022-09-17       Impact factor: 4.303
  5 in total

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