Notch signaling genes: Myogenic DNA hypomethylation and 5-hydroxymethylcytosine.
Ipswich, United States. In Epigenetics, 26 Apr 2014
Reduced representation bisulfite sequencing (RRBS) indicated significant hypomethylation in myoblasts, myotubes, and skeletal muscle vs. many nonmuscle samples at intragenic or intergenic regions of the following Notch receptor or ligand genes: NOTCH1, NOTCH2, JAG2, and DLL1.
Therapy of Advanced Squamous Cell Carcinoma of the Skin.
Paris, France. In Curr Treat Options Oncol, 19 Apr 2014
Moreover, there are several new molecular candidate treatment targets for unresectable SCCS including somatic NOTCH1 or NOTCH2 inactivating mutations, ALK1, which could be a good candidate for antiangiogenic therapy and matrix metallopeptidase 7, which enhances proliferation, migration, and invasion of cancer cells.
A Functional Germline Variant in GLI1 Implicates Hedgehog Signaling in Clinical Outcome of Stage II and III Colon Carcinoma Patients.
Leoben, Austria. In Clin Cancer Res, 15 Apr 2014
Genomic DNA was analyzed for 18 germline polymorphisms in Wnt, Notch, and Hedgehog pathway genes (SFRP, DKK 2 and 3, AXIN2, APC, MYC, TCF7L2, NOTCH2, and GLI1) by TaqMan 5'-exonuclease assays.
Molecular Profiling of HNSCC Cells and Tumors Reveals a Rational Approach to Preclinical Model Selection.
Pittsburgh, United States. In Mol Cancer Res, 14 Feb 2014
Amplification of eight genes (PIK3CA, EGFR, CCND2, KDM5A, ERBB2, PMS1, FGFR1 and WHSCIL1) and deletion of five genes (CDKN2A, SMAD4, NOTCH2, NRAS and TRIM33) were found in both HNSCC cell lines and tumors.
Notch signaling in skeletal health and disease.
Hartford, United States. In Eur J Endocrinol, Jun 2013
Inactivating mutations of the Notch ligand JAG1 or of NOTCH2 are associated with Alagille syndrome, and activating mutations in NOTCH2 are associated with Hajdu-Cheney syndrome (HCS).
Notch signaling and bone remodeling.
Saint Louis, United States. In Curr Osteoporos Rep, Jun 2013
The recent discovery of activating NOTCH2 mutations as the cause of Hajdu-Cheney syndrome has highlighted the significance of Notch signaling in human bone physiology.
Notch signaling in human development and disease.
Philadelphia, United States. In Semin Cell Dev Biol, 2012
Notch associated disorders include the autosomal dominant, multi-system, Alagille syndrome caused by mutations in both a ligand (Jagged1 (JAG1)) and receptor (NOTCH2) and autosomal recessive spondylocostal dysostosis, caused by mutations in a ligand (Delta-like-3 (DLL3)), as well as several other members of the Notch signaling pathway.
Clinical risk factors, DNA variants, and the development of type 2 diabetes.
Malmö, Sweden. In N Engl J Med, 2008
Variants in 11 genes (TCF7L2, PPARG, FTO, KCNJ11, NOTCH2, WFS1, CDKAL1, IGF2BP2, SLC30A8, JAZF1, and HHEX) were significantly associated with the risk of type 2 diabetes independently of clinical risk factors; variants in 8 of these genes were associated with impaired beta-cell function.