Mutated MESP2 causes spondylocostal dysostosis in humans.
about
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndromeMutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotypeNotch regulation of bone development and remodeling and related skeletal disordersThe roles of Mesp family proteins: functional diversity and redundancy in differentiation of pluripotent stem cells and mammalian mesodermal developmentNotch signaling in human development and diseaseSomitogenesisRipply2 is essential for precise somite formation during mouse early developmentTbx16 regulates hox gene activation in mesodermal progenitor cellsGenome-wide analyses of gene expression during mouse endochondral ossificationRole of glycans and glycosyltransferases in the regulation of Notch signalingptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease.Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis.Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.Scoliosis and segmentation defects of the vertebrae.Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral developmentā .A new mib allele with a chromosomal deletion covering foxc1a exhibits anterior somite specification defect.Notch signaling in skeletal health and disease.Genetic association analysis between polymorphisms of HAIRY-AND-ENHANCER-OF SPLIT-7 and congenital scoliosis.Molecular genetics of congenital diaphragmatic defects.Notch signalling in vertebrate neural development.A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomasClinical, genetic and environmental factors associated with congenital vertebral malformations.Dynamic CREB family activity drives segmentation and posterior polarity specification in mammalian somitogenesisNotch Signaling and the Skeleton.Building the spine: the vertebrate segmentation clock.Genetic aspects of congenital and idiopathic scoliosis.Role of unusual O-glycans in intercellular signalingProgress and perspective of TBX6 gene in congenital vertebral malformations.Notch, lipids, and endothelial cells.Vertebrate segmentation: from cyclic gene networks to scoliosis.The mouse notches up another success: understanding the causes of human vertebral malformation.Notch and disease: a growing field.Therapeutic modulation of Notch signalling--are we there yet?Molecular diagnosis of vertebral segmentation disorders in humans.Structural and mechanistic insights into lunatic fringe from a kinetic analysis of enzyme mutants.Identification of small molecules uncoupling the Notch::Jagged interaction through an integrated high-throughput screening.Notch Signaling in Development, Tissue Homeostasis, and Disease.Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
P2860
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P2860
Mutated MESP2 causes spondylocostal dysostosis in humans.
description
2004 nĆ® lÅ«n-bĆ»n
@nan
2004 Õ©ÕøÖÕ”ÕÆÕ”Õ¶Õ« Ō±ÕŗÖÕ«Õ¬Õ«Õ¶ Õ°ÖÕ”ÕæÕ”ÖÕ”ÕÆÕøÖÕ”Õ® Õ£Õ«ÕæÕ”ÕÆÕ”Õ¶ ÕµÖ
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@hyw
2004 Õ©Õ¾Õ”ÕÆÕ”Õ¶Õ« Õ”ÕŗÖÕ«Õ¬Õ«Õ¶ Õ°ÖÕ”ÕæÕ”ÖÕ”ÕÆÕ¾Õ”Õ® Õ£Õ«ÕæÕ”ÕÆÕ”Õ¶ Õ°ÕøÕ¤Õ¾Õ”Õ®
@hy
2004幓ć®č«ę
@ja
2004幓å¦ęÆęē«
@wuu
2004幓å¦ęÆęē«
@zh-cn
2004幓å¦ęÆęē«
@zh-hans
2004幓å¦ęÆęē«
@zh-my
2004幓å¦ęÆęē«
@zh-sg
2004幓åøč”ęē«
@yue
name
Mutated MESP2 causes spondylocostal dysostosis in humans
@nl
Mutated MESP2 causes spondylocostal dysostosis in humans.
@ast
Mutated MESP2 causes spondylocostal dysostosis in humans.
@en
type
label
Mutated MESP2 causes spondylocostal dysostosis in humans
@nl
Mutated MESP2 causes spondylocostal dysostosis in humans.
@ast
Mutated MESP2 causes spondylocostal dysostosis in humans.
@en
prefLabel
Mutated MESP2 causes spondylocostal dysostosis in humans
@nl
Mutated MESP2 causes spondylocostal dysostosis in humans.
@ast
Mutated MESP2 causes spondylocostal dysostosis in humans.
@en
P2093
P2860
P50
P3181
P356
P1476
Mutated MESP2 causes spondylocostal dysostosis in humans.
@en
P2093
David Sillence
Neil V Whittock
Peter D Turnpenny
P2860
P304
P3181
P356
10.1086/421053
P407
P577
2004-04-30T00:00:00Z