• Mutation; HGNC; HGNC:7881; NOTCH1; Simple; p.Gln1687Ter (c.5059C>T); Zygosity=Unspecified (PubMed=22006338; PubMed=24662767).
  

PubMed=22006338; DOI=10.1073/pnas.1114669108; PMCID=PMC3203814
Nicholas J. Wang, Zachary Sanborn, Kelly L. Arnett, Laura J. Bayston, Wilson Liao, Charlotte Mary Proby, Irene May Leigh, Eric A. Collisson, Patricia B. Gordon, Lakshmi R. Jakkula, Sally Pennypacker ...Show all 33 authors... , Yong Zou, Mimansa Sharma, Jeffrey P. North, Swapna S. Vemula, Theodora M. Mauro, Isaac M. Neuhaus, Philip E. LeBoit, Joe S. Hur, Kyunghee Park, Nam Huh, Pui-Yan Kwok, Sarah T. Arron, Pierre Pascal Massion, Allen E. Bale, David Haussler, James Edward Cleaver, Joe W. Gray, Paul T. Spellman, Andrew P. South, Jon Christopher Aster, Stephen Charles Blacklow, Raymond J. Cho; Show fewer authors
Loss-of-function mutations in Notch receptors in cutaneous and lung squamous cell carcinoma.
Proc. Natl. Acad. Sci. U.S.A. 108:17761-17766(2011)

PubMed=24662767; DOI=10.1038/jid.2014.154; PMCID=PMC4753672
Andrew P. South, Karin J. Purdie, Stephen A. Watt, Sam Haldenby, Nicoline Y. den Breems, Michelle Dimon, Sarah T. Arron, Michael J. Kluk, Jon Christopher Aster, Angela McHugh, Dylan J. Xue ...Show all 17 authors... , Jasbani H.S. Dayal, Kim S. Robinson, S.M. Hasan Rizvi, Charlotte Mary Proby, Catherine A. Harwood, Irene May Leigh; Show fewer authors
NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.
J. Invest. Dermatol. 134:2630-2638(2014)

PubMed=31336867; DOI=10.3390/ijms20143428; PMCID=PMC6678499
Sakinah Hassan, Karin J. Purdie, Jun Wang, Catherine A. Harwood, Charlotte Mary Proby, Celine Pourreyron, Nikol Mladkova, Ai Nagano, Sandeep Dhayade, Dimitris Athineos, Matthew Caley ...Show all 15 authors... , Viviana Mannella, Karen Blyth, Gareth J. Inman, Irene May Leigh; Show fewer authors
A Unique panel of patient-derived cutaneous squamous cell carcinoma cell lines provides a preclinical pathway for therapeutic testing.
Int. J. Mol. Sci. 20:3428.1-3428.26(2019)