Concepedia

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson, Melita Irving, Esra Asilmaz, Mary Jane Gray, Dimitra Dafou, Frances Elmslie, Sahar Mansour, Sue Holder, Caroline Brain, Barbara K. Burton,

Nature Genetics · 2011 · 308 citations · 10 references

DOI

Concepts

References

10

Activating Mutations of <i>NOTCH1</i> in Human T Cell Acute Lymphoblastic Leukemia

Andrew P. Weng, Adolfo A. Ferrando, Woojoong Lee et al. · Science · 2004 · 2.7K citations

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PEST sequences and regulation by proteolysis

Martin Rechsteiner, Scott W. Rogers · Trends in Biochemical Sciences · 1996 · 1.6K citations

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NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway

Ryan M. McDaniell, Daniel M. Warthen, Pedro A. Sanchez‐Lara et al. · The American Journal of Human Genetics · 2006 · 743 citations · Full text

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Mutation in ankyrin repeats of the mouse <i>Notch2</i> gene induces early embryonic lethality

Y. Hamada, Yuzo Kadokawa, Masaru Okabe et al. · Development · 1999 · 282 citations

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Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies

Annie W.C. Kung, Su‐Mei Xiao, Stacey S. Cherny et al. · The American Journal of Human Genetics · 2010 · 186 citations · Full text

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