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
about
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndromeMutated MESP2 causes spondylocostal dysostosis in humans.Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotypeThe genetic landscape and clinical implications of vertebral anomalies in VACTERL associationNotch signaling in human development and diseasemiRNA-34c regulates Notch signaling during bone developmentThe divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligandsTomographic assessment of the spine in children with spondylocostal dysotosis syndrome.Tbx16 regulates hox gene activation in mesodermal progenitor cellsA new mib allele with a chromosomal deletion covering foxc1a exhibits anterior somite specification defect.Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.Genetic association analysis between polymorphisms of HAIRY-AND-ENHANCER-OF SPLIT-7 and congenital scoliosis.Clinical, genetic and environmental factors associated with congenital vertebral malformations.Notch Signaling and the Skeleton.Oncogenic role of the Notch pathway in primary liver cancer.The many facets of Notch ligands.Genetic aspects of congenital and idiopathic scoliosis.Five known tagging DLL3 SNPs are not associated with congenital scoliosis: A case-control association study in a Chinese Han population.The mouse notches up another success: understanding the causes of human vertebral malformation.Notch and disease: a growing field.Delta-like 3 is silenced by methylation and induces apoptosis in human hepatocellular carcinoma.Molecular diagnosis of vertebral segmentation disorders in humans.CHI3L1 regulation of inflammation and the effects on osteogenesis in a Staphylococcus aureus-induced murine model of osteomyelitis.A cell autonomous role for the Notch ligand Delta-like 3 in αβ T-cell development.Segmentation anomalies of the vertebras and ribs: one expression of the primary developmental field.Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases.
P2860
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P2860
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
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2003 nî lūn-bûn
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2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2003 թվականի մայիսին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年論文
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2003年论文
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Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
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Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
@en
Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
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label
Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
@ast
Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
@en
Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
@nl
prefLabel
Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
@ast
Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
@en
Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
@nl
P2093
P2860
P3181
P356
P1476
Novel mutations in DLL3, a som ...... n in spondylocostal dysostosis
@en
P2093
P2860
P3181
P356
10.1136/JMG.40.5.333
P407
P577
2003-05-01T00:00:00Z