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Results provide evidence for a critical role of Vps35 (show vps35 Proteins) in mouse corneal dystrophy; suggest that SLC4A11 appears to be a Vps35 (show vps35 Proteins)/retromer cargo, and Vps35 (show vps35 Proteins)-regulation of SLC4A11 trafficking may underlie Vps35 (show vps35 Proteins)/retromer regulation of corneal dystrophy.
Successful knockout of the Slc4a11 gene was confirmed by immunohistochemistry and RT-PCR. Slit-lamp photography and AS-OCT (show Plxna2 Proteins) showed progressive corneal edema.
Loss of SLC4A11 leads to morphological changes in the fibrocytes and deafness.
Results demonstrate the importance of NaBC1 (show BCAS1 Proteins) in the audio-vestibular system and provide support for the hypothesis that SLC4A11 should be considered a potential candidate gene in patients with isolated sensorineural vestibular hearing abnormalities.
for the first time, compound heterozygous SLC4A11 mutations impair protein function leading to delayed onset of the disease.
These complex ion transport properties need to be addressed in the context of corneal endothelial disease processes caused by mutations in SLC4A11.
A role of human SLC4A11 in bicarbonate or borate transport.
Slc4a11 is an ideally selective H(+)/OH(-) conductive pathway.
SLC4A11 rs3810560 polymorphism independently affected the sustained viral response rates in chronic hepatitis C patients treated with PEGIFN2b/ribavirin/combination.
Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 (show COL8a2 Proteins) and TCF4 (show TCF4 Proteins) gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy found no evidence for found polymorophisms causing the disease in this specific pedigree.
study reports a newly identified mutation (c.2024A>C) in the SLC4A11 gene segregating with the diseased haplotype in two consanguineous Pakistani families
we report posterior polymorphous corneal dystrophy resulting from a de novo mutation in ZEB1. Additionally, we present a congenital hereditary endothelial dystrophy case with a thin Descemet membrane with a novel compound heterozygous SLC4A11 mutation.
we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED (show CDK13 Proteins). [review]
We report a novel nonsense mutation of the SLC4A11 gene in the patient with CHED2. In addition, one of heterozygous carriers in this family showed features of late onset Fuchs endothelial corneal dystrophy.
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described.
sodium bicarbonate transporter-like protein 11
, solute carrier family 4, sodium bicarbonate transporter-like, member 11
, solute carrier family 4, sodium borate transporter, member 11
, sodium-coupled borate transporter
, sodium bicarbonate transporter-like protein 11-like
, solute carrier family 4 member 11
, Sodium borate cotransporter 1
, Solute carrier family 4 member 11
, bicarbonate transporter-related protein 1
, bicarbonate transporter related protein 1
, sodium-coupled borate cotransporter 1