Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet. 2000;9:125–32. Article CAS PubMed Google Scholar Bronisz A, Sharma SM, Hu R, Godlewski J, Tzivion G, Mansky KC, et al. Microphthalmia-associated ...
Mutations of the BRAF gene in human cancer. Nature 417, 949–954 (2002). 2. Chapman, P. B. et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. New Engl. J. Med. 364, 2507–2516 (2011). 3. Tsai, J. et al. Discovery of a selective inhibitor of ...
A) MITF germline mutation carriers: case series and review of the literature]]>MITFc.952G > Ap.E318KHereditary cancerMultigene sequencing panelBreast cancerBackground: The microphthalmia-associated transcription factor gene (MITF) belongs to the MYC supergene family and plays an important role ...
Cyclin-dependent kinases 4 and 6 (CDK4/6) play a pivotal role in cell cycle and cancer development. Targeting CDK4/6 has demonstrated promising effects against breast cancer. However, resistance to CDK4/6 inhibitors (CDK4/6i), such as palbociclib, remain
We assayed for the presence of the E318K and V320I missense mutations in 4,226 patients with one of six various cancers (melanoma or cancer of the kidney, lung, prostate, colon, or breast) and 2,114 controls from Poland. The E318K mutation was detected in 4 of 2,114 participants (...
Southard-Smith EM, Kos L, Pavan WJ. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet 1998;18(1):60–64. PubMedCASGoogle Scholar Herbarth B, Pingault V, Bondurand N, et al. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mou...
The causative mutation was observed to result in an amino acid change (A477V) in the transporter protein SLC45A2 after being validated in 130 unrelated tigers, which led to the formation of a white coat color [45]. Based on the previous studies, our work investigated the gene that ...