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Data identified two novel mutations in SLC26A2 gene: c.824 T > C and c.1198C > T in two siblings multiple epiphyseal dysplasia 4 within a Chinese family. Both mutations were inherited from both parents, one mutation from each.
Two heterozygous mutations in SLC26A2 mutations occur in a three-generational family with cases of multiple epiphyseal dysplasias.
Molecular analysis of human solute carrier SLC26A2, SLC26A3, and SLC26A4 anion transporter disease-causing mutations using 3-dimensional homology modeling has been presented.
Results show that SLC26A2 expression is high in numerous tumor types and, provide evidence that it downregulates the TRAIL receptors, DR4 and DR5 which confers resistance to TRAIL.
slc26a2 is to be a critical otic gene whose dysfunction may induce hearing impairment
findings provide the first identification of autosomal dominant SLC26A2 mutations in patients with dysplastic spondylolysis, suggesting a new clinical entity in the pathogenesis of chondrodysplasia involving lumbosacral spine
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion.
Up-regulation of SLC26A2 is associated with colorectal cancer.
A compound heterozygote SLC26A2 mutation is associated with robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia
SLC13A4 and SLC26A2 were the most abundant sulfate transporter mRNAs, which localized to syncytiotrophoblast and cytotrophoblast cells, respectively.
73% of autosomal-recessive multiple epiphyseal dysplasia patients were either homozygous, or compound heterozygous, for SLC26A2 mutations.
Solute carrier family 26 member a2 (Slc26a2) protein functions as an electroneutral SOFormula/OH-/Cl- exchanger regulated b
Mutations in the SLC26A2 gene causes diastrophic dysplasia.
Analysis suggests that, while the DTDST family of disorders contains at least seven different conditions, gene mutations appear to cause a phenotypic continuum. DTDST genotype alone is an imperfect predictor of clinical severity along this continuum.
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene is reported.
Characterize transport of oxalate and sulfate by human SLC26A2 and mouse Slc26a2 expressed in Xenopus oocytes.
Diminished DTDST expression through epigenetic silencing is associated with colon cancer.
Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. (SLC26A7).(SLC26A8).(SLC26A9) three entries
DTDST function is crucial for the uptake of extracellular sulfate required for proteoglycan sulfation.
The effects of sulfur availablility on proteoglycan sulfation in mice transgenic for a mutation of this gene are reported.
These findings reveal multiple roles for Slc26a2 in chondrocyte biology and emphasize the importance of Slc26a2-mediated protein sulfation in cell signaling
a Slc26a2 mutation results in matrix disruptions, growth, and degradation of cartilage with impaired sulfation
Homozygous mutant mice for SLC26A2 were characterized by skeletal dysplasia with chondrocytes of irregular size, delay in the formation of the secondary ossification centre and osteoporosis of long bones.
Sheep, goat and cattle R-banded chromosome preps, obtained from synchronized cell cultures, were used to FISH-map leptin and SLC26A2 genes on single chromosome bands. SLC26A2 maps on BTA7q24, OAR5q24 and CHI7q24.
The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization.
solute carrier family 26 (sulfate transporter), member 2
, sulfate transporter-like
, diastrophic dysplasia protein
, sulfate anion transporter 1
, sulfate transporter
, diastrophic dysplasia protein homolog
, solute carrier family 26 member 2
, DTD sulfate transporter
, Sulfate transporter
, solute carrier protein 26a2
, Solute carrier family 26 member 2