Concepedia

Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

Ming Li, Ruhong Cheng, Jianying Liang, Heng Yan, Hui Zhang, Lijia Yang, Chengrang Li, Qingqing Jiao, Zhiyong Lu, Jianhui He,

The American Journal of Human Genetics · 2013 · 162 citations · 31 references

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31

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

Anne Joutel, Christophe Corpechot, Anne Ducros et al. · Nature · 1996 · 2.1K citations

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TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms

Leif W. Ellisen, Daniel C. West, A. Lee Soreng et al. · Cell · 1991 · 1.7K citations

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Mutations in NOTCH1 cause aortic valve disease

Vidu Garg, Alecia N. Muth, J. Ransom et al. · Nature · 2005 · 1.5K citations

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Linheng Li, Ian D. Krantz, Yu Deng et al. · Nature Genetics · 1997 · 1.3K citations

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Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma

Nicholas J. Wang, Zachary Sanborn, Kelly L. Arnett et al. · Proceedings of the National Academy of Sciences · 2011 · 470 citations · Full text

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