Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
BEFREE |
Seven disease genes have been reported as causal genes for SCDO: DLL3, MESP2, TBX6, HES7, RIPPLY2, DMRT2, and LFNG.
|
30531807 |
2019 |
Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
BEFREE |
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.
|
21147753 |
2011 |
Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
BEFREE |
Only a minority of abnormal segmentation phenotypes appear to follow Mendelian inheritance but three genes--DLL3, MESP2 and LNFG--have now been identified for spondylocostal dysostosis (SCD), a spinal malformation characterized by extensive hemivertebrae, trunkal shortening and abnormally aligned ribs with points of fusion.
|
21038776 |
2008 |
Jarcho-Levin syndrome
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
The severe vertebral disorder, spondylocostal dysostosis type 1, is associated with a homozygous delta-like 3 (DLL3) mutation.
|
15717203 |
2005 |
Jarcho-Levin syndrome
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
|
14708096 |
2004 |
Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.
|
12791036 |
2003 |
Jarcho-Levin syndrome
|
0.870 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
|
12746394 |
2003 |
Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
MGD |
Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm.
|
11923214 |
2002 |
Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
BEFREE |
In humans, mutations in genes required for oscillation, such as Delta-like 3 (DLL3), result in abnormal segmentation of the vertebral column, as found in spondylocostal dysostosis syndrome, suggesting that the segmentation clock also acts during human embryonic development.
|
11846732 |
2001 |
Jarcho-Levin syndrome
|
0.870 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
|
10742114 |
2000 |
Jarcho-Levin syndrome
|
0.870 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
|
10742114 |
2000 |
Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
BEFREE |
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
|
10742114 |
2000 |
Jarcho-Levin syndrome
|
0.870 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Jarcho-Levin syndrome
|
0.870 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|