|
Chondrodysplasia
|
0.100 |
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 |
|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Two lethal forms of human SLC26A2-related chondrodysplasias, achondrogenesis type IB (ACG1B) and atelosteogenesis type II (AO2), are phenocopied by slc26a2<sup>-/-</sup> mice.
|
30685387 |
2019 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A plethora of human diseases are associated with mutations in the genes encoding human SLC26 transporters, including chondrodysplasias with varying severity in SLC26A2 (~50 mutations, 27 point mutations), congenital chloride-losing diarrhea in SLC26A3 (~70 mutations, 31 point mutations) and Pendred Syndrome or deafness autosomal recessive type 4 in SLC26A4 (~500 mutations, 203 point mutations).
|
28941661 |
2017 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To our knowledge, our 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.
|
26077908 |
2015 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB.
|
23840040 |
2013 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
|
15703192 |
2005 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Special interest has focused on four members of the SLC26 family that are associated with distinct recessive diseases: (i) Mutations in SLC26A2 lead to four different chondrodysplasias (diastrophic dysplasia, atelosteogenesis type II, achondrogenesis type IB and multiple epiphyseal dysplasia); (ii) SLC26A3 is associated with congenital chloride diarrhea; (iii) SLC26A4 is associated with Pendred syndrome and non-syndromic deafness, DFNB4; and (iv) SLC26A5 is defective in non-syndromic hearing impairment.
|
15720248 |
2005 |
|
Chondrodysplasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
|
11448940 |
2001 |
|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
To evaluate the degree of proteoglycan undersulfation in vivo, we have extracted chondroitin sulfate proteoglycans from cartilage of twelve patients with sulfate transporter chondrodysplasias and analyzed their disaccharide composition by HPLC after digestion with chondroitinase ABC.
|
9822202 |
1998 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the diastrophic dysplasia sulfate transporter gene cause a family of chondrodysplasias including, in order of increasing severity, diastrophic dysplasia, atelosteogenesis type 2 and achondrogenesis type 1B.
|
9342225 |
1997 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To learn more about the molecular basis of DTDST chondrodysplasias and about genotype-phenotype correlations, we studied fibroblast cultures of three new patients: one with AO-2, one with DTD, and one with an intermediate phenotype (AO2/DTD).
|
8931695 |
1996 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5.
|
8723100 |
1996 |