Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysplasias.
|
30423444 |
2019 |
Diastrophic dysplasia
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
|
27065010 |
2016 |
Diastrophic dysplasia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Mutations in these genes cause a plethora of diseases such as diastrophic dysplasia affecting sulfate uptake into chondrocytes (SLC26A2), congenital chloride-losing diarrhoea (SLC26A3) affecting chloride secretion in the intestine and Pendred's syndrome (SLC26A4) resulting in hearing loss.
|
26635355 |
2016 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
|
26077908 |
2015 |
Diastrophic dysplasia
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Multiple epiphyseal dysplasia.
|
25667404 |
2015 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish.
|
26375458 |
2015 |
Diastrophic dysplasia
|
0.900 |
Biomarker
|
disease |
BEFREE |
DTD is overrepresented in Finland and we speculated that this may have influenced the prevalence and spectrum of SLC26A2-related skeletal conditions also in Sweden.
|
24598000 |
2015 |
Diastrophic dysplasia
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
|
24598000 |
2015 |
Diastrophic dysplasia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Using mesenchymal stem cells (MSCs) in an in vitro chondrogenesis assay, we found that knockdown of the diastrophic dysplasia (DTD) sulfate transporter (DTDST, also known as SLC26A2), which is required for normal cartilage development, blocked cell condensation and caused a significant reduction in fibronectin matrix.
|
25146392 |
2014 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Importantly, mutations in SLC26A2, A3, A4, and A5 have been associated with distinct human genetic recessive disorders (i.e. diastrophic dysplasia, congenital chloride diarrhea, Pendred syndrome and deafness, respectively), demonstrating their essential and non-redundant functions in many tissues.
|
24530837 |
2014 |
Diastrophic dysplasia
|
0.900 |
Biomarker
|
disease |
BEFREE |
These findings reveal multiple roles for Slc26a2 in chondrocyte biology and emphasize the importance of Slc26a2-mediated protein sulfation in cell signaling, which may account for the complex phenotype of DTD.
|
24302720 |
2014 |
Diastrophic dysplasia
|
0.900 |
Biomarker
|
disease |
BEFREE |
Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion.
|
24591336 |
2014 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This phenotype was intermediate between DTD and rMED, and both girls have a compound heterozygous mutations for the SLC26A2, a Finnish founder mutation (c.-26 + 2T>C), and R279W.
|
23840040 |
2013 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SLC26A2 are associated with diastrophic dysplasia.
|
22190686 |
2012 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
|
21922596 |
2012 |
Diastrophic dysplasia
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the sulfate transporter gene, SCL26A2, lead to cartilage proteoglycan undersulfation resulting in chondrodysplasia in humans; the phenotype is mirrored in the diastrophic dysplasia (dtd) mouse.
|
20470884 |
2010 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
DTDST mutations cause a spectrum of diastrophic dysplasia disorders characterized by defects of proteoglycans sulfation.
|
21077204 |
2010 |
Diastrophic dysplasia
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
|
20219950 |
2010 |
Diastrophic dysplasia
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |
Diastrophic dysplasia
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
|
20525296 |
2010 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
|
20525296 |
2010 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
|
20592910 |
2010 |
Diastrophic dysplasia
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.
|
21077202 |
2010 |
Diastrophic dysplasia
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.
|
21077204 |
2010 |