Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
about
Notch regulation of bone development and remodeling and related skeletal disordersNotch signaling in human development and diseaseSomitogenesisHLH-29 regulates ovulation in C. elegans by targeting genes in the inositol triphosphate signaling pathway.ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease.Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic CatsGentrepid V2.0: a web server for candidate disease gene prediction.Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variationThe Her7 node modulates the network topology of the zebrafish segmentation clock via sequestration of the Hes6 hub.Notch signaling in skeletal health and disease.Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.Clinical, genetic and environmental factors associated with congenital vertebral malformations.Notch Signaling and the Skeleton.Genetic aspects of congenital and idiopathic scoliosis.The segmentation clock mechanism moves up a notch.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.Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient.
P2860
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P2860
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
description
2010 nî lūn-bûn
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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
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2010年論文
@zh-hant
2010年論文
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2010年論文
@zh-mo
2010年論文
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2010年论文
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name
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@ast
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@en
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@nl
type
label
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@ast
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@en
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@nl
prefLabel
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@ast
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@en
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@nl
P2860
P50
P356
P1476
Two novel missense mutations i ...... ith spondylocostal dysostosis.
@en
P2093
David Sillence
Peter D Turnpenny
P2860
P2888
P304
P356
10.1038/EJHG.2009.241
P577
2010-01-20T00:00:00Z
P5875
P6179
1035826952