Human corneal expression of SLC4A11, a gene mutated in endothelial corneal dystrophies
D Malhotra, SK Loganathan, AM Chiu, CM Lukowski… - Scientific Reports, 2019 - nature.com
Two blinding corneal dystrophies, pediatric-onset congenital hereditary endothelial
dystrophy (CHED) and some cases of late-onset Fuchs endothelial corneal dystrophy …
dystrophy (CHED) and some cases of late-onset Fuchs endothelial corneal dystrophy …
Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies
SK Loganathan, HP Schneider… - … of Physiology-Cell …, 2016 - journals.physiology.org
SLC4A11, a member of the SLC4 family of bicarbonate transporters, is a widely expressed
integral membrane protein, abundant in kidney and cornea. Mutations of SLC4A11 cause …
integral membrane protein, abundant in kidney and cornea. Mutations of SLC4A11 cause …
Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies
K Alka, JR Casey - Human mutation, 2018 - Wiley Online Library
SLC4A11 mutations cause cases of congenital hereditary endothelial dystrophy (CHED),
Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD). Defective water …
Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD). Defective water …
[HTML][HTML] High throughput assay identifies glafenine as a corrector for the folding defect in corneal dystrophy–causing mutants of SLC4A11
AM Chiu, JJ Mandziuk, SK Loganathan… - … & Visual Science, 2015 - arvojournals.org
Purpose: Protein misfolding, causing retention of nascent protein in the endoplasmic
reticulum (ER), is the most common molecular phenotype for disease alleles of membrane …
reticulum (ER), is the most common molecular phenotype for disease alleles of membrane …
Identification and in silico analysis of a spectrum of SLC4A11 variations in Indian familial and sporadic cases of congenital hereditary endothelial dystrophy
Background Congenital hereditary endothelial dystrophy (CHED) is a rare form of corneal
dystrophy caused by SLC4A11 gene variations. This study aims to find the genetic …
dystrophy caused by SLC4A11 gene variations. This study aims to find the genetic …
SLC4A11 Three‐Dimensional Homology Model Rationalizes Corneal Dystrophy‐Causing Mutations
KE Badior, K Alka, JR Casey - Human Mutation, 2017 - Wiley Online Library
We studied the structural effects of point mutations of a membrane protein that cause genetic
disease. SLC4A11 is a membrane transport protein (OH−/H+/NH3/H2O) of basolateral …
disease. SLC4A11 is a membrane transport protein (OH−/H+/NH3/H2O) of basolateral …
The cytoplasmic domain is essential for transport function of the integral membrane transport protein SLC4A11
SK Loganathan, CM Lukowski… - American Journal of …, 2016 - journals.physiology.org
Large cytoplasmic domains (CD) are a common feature among integral membrane proteins.
In virtually all cases, these CD have a function (eg, binding cytoskeleton or regulatory …
In virtually all cases, these CD have a function (eg, binding cytoskeleton or regulatory …
Homozygous SLC4A11 mutation in a large Irish CHED2 pedigree
CK Hand, M McGuire, NA Parfrey… - Ophthalmic Genetics, 2017 - Taylor & Francis
Background: Congenital hereditary endothelial dystrophy (CHED) is a genetic disorder of
corneal endothelial cells resulting in corneal clouding and visual impairment. Autosomal …
corneal endothelial cells resulting in corneal clouding and visual impairment. Autosomal …
Congenital corneal endothelial dystrophies resulting from novel de novo mutations
K Cunnusamy, CB Bowman, W Beebe, X Gong… - Cornea, 2016 - journals.lww.com
Purpose: To describe 2 cases of congenital corneal endothelial edema resulting from novel
de novo mutations. Methods: Case A patient was a 15-month-old white child and case B …
de novo mutations. Methods: Case A patient was a 15-month-old white child and case B …
[PDF][PDF] MUTATIONS OF SLC4A11 IN CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY: A SYSTEMATIC REVIEW
D Chaitra, A Usha, A Sachidananda, P Divya, S SP - pharmacologyonline.silae.it
Method Two investigators conducted the literature search and data extraction independently
from November 2020 to January 2021 using SLC4A11 and congenital hereditary …
from November 2020 to January 2021 using SLC4A11 and congenital hereditary …