Identification of novel LFNG mutations in spondylocostal dysostosis

Fringe is a glycosyltransferase that modifies Notch

Daniel J. Moloney, Vladislav M. Panin, Stuart H. Johnston et al. · Nature · 2000 · 846 citations

Life Sciences, Biochemistry, Molecular Biology +9

lunatic fringe is an essential mediator of somite segmentation and patterning

Yvonne A. Evrard, Yi Lun, Alexander Aulehla et al. · Nature · 1998 · 395 citations

Life Sciences, Cell Biology, Developmental Biology +11

Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

Michael Bulman, Kenro Kusumi, Timothy M. Frayling et al. · Nature Genetics · 2000 · 392 citations

Medicine, Genetics, Molecular Genetics +14

Activity of the yeast <i>MNN1</i> α-1,3-mannosyltransferase requires a motif conserved in many other families of glycosyltransferases

Christine A.R. Wiggins, Sean Munro · Proceedings of the National Academy of Sciences · 1998 · 359 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

<i>TBX6</i> Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

Nan Wu, Jianqiu Xiao, Zhihong Wu et al. · New England Journal of Medicine · 2015 · 314 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17