Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome

By P. Rodriguez-Viciana, O. Tetsu, W. E. Tidyman, A. L. Estep, Brenda A. Conger, M. S. Cruz, F. McCormick, K. Rauen. 2006

561 citations recorded by the source corpus.

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

Quantitative missense variant effect prediction using large-scale mutagenesis data (2017, neutral): “For example, both gain- and loss-of-function variants of BRAF can be pathogenic (Rodriguez-Viciana et al., 2006; Wan et al., 2004).”
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy (2007, background): “In addition, activating BRAF , MEK1 and MEK2 mutations have been observed in CF”
Mitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale. (2010, background): “genetic disorders with cardiac developmental defects, such as LEOPARD syndrome, cardio-facio-cutaneous (CFC) syndrome, and Costello syndrome (10, 302, 345).”
Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer (2007, background): “Recently, germline de novo mutational activation of H-Ras and K-Ras, B-Raf, as well as MEK1 and MEK2, has been found in patients that comprise a group of related developmental disorders (Costello, cardio–facio– cutaneous and Noonan’s syndromes) (Table 2), and suggests that aberrant ERK activation wi”
Roles of the Raf/MEK/ERK and PI3K/PTEN/Akt/mTOR pathways in controlling growth and sensitivity to therapy-implications for cancer and aging (2011, background): “There are also mutations at other components of the Ras/Raf/MEK/ERK pathway including KRAS and BRAF in CFC.”