Distal renal tubular acidosis autoimmune thyroiditis enamel hypomaturation and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.
Extracellular vesicles derived from cancer-associated fibroblast carries miR-224-5p targeting SLC4A4 to promote the proliferation invasion and migration of colorectal cancer cells.
hsa_circRNA_001587 upregulates SLC4A4 expression to inhibit migration invasion and angiogenesis of pancreatic cancer cells via binding to microRNA-223.
SLC4A4 expression correlated negatively with miR-223-3p expression in patient samples. Given that miR-223-3p suppressed the SLC4A4/KRAS axis miR-223-3p gene therapy could be an effective treatment for renal cancer.
In this retrospective case series we highlight our experience with children referred to a pediatric ophthalmologist who were found to harbor underlying biallelic SLC4A4 mutations.
A novel mechanism for variable phenotypic expressivity in band-shaped corneal dystrophy mediated by an AU-rich element (ARE)-creating mutation in SLC4A4 in three unrelated consanguineous families has been described.
R510H and Q913R identified in a patient with proximal renal tubular acidosis. Mutant proteins exhibit substantial intracellular retention when expressed in mammalian renal cell lines. Q913R is associated with an unusual HCO3- independent anion-leak in Xenopus oocytes.
Data indicate that a domain-like structure formed by extracellular loop 3 (EL-3) is present at the SLC4 Na+-coupled transporter NBCe1-A dimeric interface.
a clear understanding of the structure-functional properties of NBCe1 is a prerequisite for elucidating the mechanisms of defective transepithelial bicarbonate transport--{REVIEW}
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