Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
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 |
Osteochondrodysplasias
|
0.120 |
GeneticVariation
|
group |
BEFREE |
Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed.
|
23300579 |
2012 |
Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
|
21155763 |
2011 |
Osteochondrodysplasias
|
0.120 |
GeneticVariation
|
group |
CLINVAR |
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
|
20592910 |
2010 |
Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Regulated transport of sulfate and oxalate by SLC26A2/DTDST.
|
20219950 |
2010 |
Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
|
15294877 |
2004 |
Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
|
12525546 |
2003 |
Osteochondrodysplasias
|
0.120 |
GeneticVariation
|
group |
CLINVAR |
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
|
11241838 |
2001 |
Osteochondrodysplasias
|
0.120 |
AlteredExpression
|
group |
BEFREE |
In this review, we divide the osteochondrodysplasias into groups based on their genetic relationships, including mutations in various types of collagen, fibroblast growth factor, cartilage oligomeric matrix protein, parathyroid hormone receptor, the diastrophic dysplasia sulfate transporter, enzymes such as steroid sulfatases, transcription factor SOX9, and a cysteine proteinase, cathepsin K. We describe the major osteochondrodysplasias, define their causes and clinical manifestations, and provide the orthopaedic surgeon with an understanding of the underlying molecular defects as well as the anatomical aspects of these disorders.
|
11008738 |
2001 |
Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).
|
10482955 |
1999 |
Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.
|
9637425 |
1998 |
Osteochondrodysplasias
|
0.120 |
GeneticVariation
|
group |
CLINVAR |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |
Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
|
8571951 |
1996 |
Osteochondrodysplasias
|
0.120 |
CausalMutation
|
group |
CLINVAR |
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
|
8528239 |
1996 |