Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the current study, we provide additional experimental data showing that loss-of-function TRAPPC2 variants are probably causative for SEDT-XL phenotype.
|
31053099 |
2019 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL).
|
30647738 |
2018 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe SEDT in a large Chinese pedigree.
|
24841781 |
2014 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Bioinformatic filtering of variants implicated in skeletal system development revealed a novel hemizygous mutation, c.341-(11_9)delAAT, in an intron of TRAPPC2, the causative locus of spondyloepiphyseal dysplasia tarda (SEDT).
|
23656395 |
2014 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization.
|
23898804 |
2013 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel splicing mutation in the SEDL gene causes spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
|
23876379 |
2013 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the TRAPPC2 (previously called SEDL) gene, the only gene associated with X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT; MIM 313400), was performed, and a splice-donor site mutation in intron 3 of the TRAPPC2 gene (c.93+5G>A) was identified in the proband and in his unaffected mother (a heterozygote).
|
22563562 |
2012 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
This joint action of TANGO1 and Sedlin sustained the ER export of PC, and its derangement may explain the defective chondrogenesis underlying SEDT.
|
23019651 |
2012 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TRAPP complex subunit 2 (TRAPPC2) cause X-linked spondyloepiphyseal dysplasia tarda, while mutations in the TRAPP complex subunit 9 (TRAPPC9) cause postnatal mental retardation with microcephaly.
|
21858081 |
2011 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
|
19002213 |
2009 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
|
19766614 |
2009 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.
|
14755465 |
2004 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family.
|
12650905 |
2003 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular basis for SEDL has been elucidated by the identification of various mutations (currently >30) in the SEDL gene from Xp22 region.
|
12939648 |
2003 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deletions or point mutations in the SEDL gene are responsible for the genetic disease spondyloepiphyseal dysplasia tarda (SEDT), an X-linked skeletal disorder.
|
12361953 |
2002 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda.
|
12446987 |
2002 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family.
|
11252002 |
2001 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree.
|
11424925 |
2001 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Characterization of the human sedlin cDNA and determination of the sedlin gene structure enable functional studies of sedlin and elucidation of the pathogenesis of SEDT.
|
11595175 |
2001 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In four reported families to date, mutations in a gene designated SEDL (spondyloepiphyseal dysplasia late) cosegregate with SEDT.
|
11760838 |
2001 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene.
|
11349230 |
2001 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
SEDLIN mutations have been observed in SEDT patients, and we have undertaken studies to characterize such mutations in four unrelated SEDT kindreds by DNA sequence analysis.
|
11443194 |
2001 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene.
|
11349230 |
2001 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
|
11326333 |
2001 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Based on the knowledge of the yeast SEDL ortholog we speculated that the SEDL protein may participate along the ER-to-Golgi transport compartments.
|
11031107 |
2000 |