SEDT (spondyloepiphyseal dysplasia tarda) is a late-onset X-linked recessive skeletal dysplasia caused by mutations in the gene SEDL coding for sedlin. In the present paper,we investigated four missense mutations observed in SEDT and compare biochemical and cellular characteristics relative to the wild-type protein to address the mechanism of disease and to gain insight into the function of the sedlin protein. In situ hybridization and immunohistochemical experiments in mouse growth plates revealed sedlin to be predominantly expressed in proliferating and hypertrophic chondrocytes. Cell culture studies showed that the wildtype protein localized predominantly in the vicinity of the nucleus and the Golgi, with further localization around the ...
Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by m...
Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by m...
A six-generation kindred from Arkansas with X-linked recessive spondyloepiphyseal dysplasia tarda (S...
Spondyloepiphyseal dysplasia tarda (SEDT) is the only osteochondrodysplasia which has been shown so ...
Genetic defects occurring in the sedlin gene, a conserved component of TRAPP complex, cause Spondylo...
Spondyloepiphyseal dysplasia tarda (SEDT), an X-linked genetic disease manifesting itself in a dispr...
Session D - Genomic Disorders: abstract no. D020Spondyloepiphyseal dysplasia tarda (SEDT) is a rare ...
SEDL is an evolutionarily highly conserved protein in eukaryotic organisms. Deletions or point mutat...
promoter-binding protein 1 (MBP1), pituitary homeobox 1 (PITX1) and steroidogenic factor 1 (SF1). S...
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short s...
BACKGROUND: SEDLIN, a 140 amino acid subunit of the Transport Protein Particle (TRAPP) complex, is u...
Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary ...
X-linked spondyloepiphyseal dysplasia tarda (SEDT, or SEDL) is a primary skeletal dysplasia affectin...
Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder of endochondral bone for...
Background: SEDLIN, a 140 amino acid subunit of the Transport Protein Particle (TRAPP) complex, is u...
Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by m...
Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by m...
A six-generation kindred from Arkansas with X-linked recessive spondyloepiphyseal dysplasia tarda (S...
Spondyloepiphyseal dysplasia tarda (SEDT) is the only osteochondrodysplasia which has been shown so ...
Genetic defects occurring in the sedlin gene, a conserved component of TRAPP complex, cause Spondylo...
Spondyloepiphyseal dysplasia tarda (SEDT), an X-linked genetic disease manifesting itself in a dispr...
Session D - Genomic Disorders: abstract no. D020Spondyloepiphyseal dysplasia tarda (SEDT) is a rare ...
SEDL is an evolutionarily highly conserved protein in eukaryotic organisms. Deletions or point mutat...
promoter-binding protein 1 (MBP1), pituitary homeobox 1 (PITX1) and steroidogenic factor 1 (SF1). S...
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short s...
BACKGROUND: SEDLIN, a 140 amino acid subunit of the Transport Protein Particle (TRAPP) complex, is u...
Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary ...
X-linked spondyloepiphyseal dysplasia tarda (SEDT, or SEDL) is a primary skeletal dysplasia affectin...
Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder of endochondral bone for...
Background: SEDLIN, a 140 amino acid subunit of the Transport Protein Particle (TRAPP) complex, is u...
Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by m...
Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by m...
A six-generation kindred from Arkansas with X-linked recessive spondyloepiphyseal dysplasia tarda (S...