RASopathies are a class of developmental syndromes that result from congenital mutations in key elements of the RAS/RAF/MEK signaling pathway. A well-recognized RASopathy is the cardio-facio-cutaneous (CFC) syndrome characterized by a distinctive facial appearance, heart defects, and mental retardation. Clinically diagnosed CFC patients carry germ-line mutations in four different genes, B-RAF, MEK1, MEK2, and K-RAS. B-RAF is by far the most commonly mutated locus, displaying mutations that most often result in constitutive activation of the B-RAF kinase. Here, we describe a mouse model for CFC generated by germ-line expression of a B-RafLSLV600E allele. This targeted allele allows low levels of expression of B-RafV600E, a constitutively act...
Dilated Cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predomin...
Rapid advances in genetics are linking mutations on genes to diseases at an exponential rate, yet ch...
Ras/MAPK pathway signaling is a major participant in neurodevelopment, and evidence suggests that BR...
Cardiofaciocutaneous syndrome (CFCS) is an autosomal-dominant disorder caused by germ-line mutations...
BackgroundCardio-facio-cutaneous syndrome (CFC) is a human multiple congenital anomaly syndrome that...
Mutations in the RAS-RAF-MEK-ERK (MAPK) pathway give rise to a range of developmental disorders coll...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
(L597V)BRAF mutations are acquired somatically in human cancer samples and are frequently coincident...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental disorders w...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
Abstract Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental di...
Noonan, LEOPARD, and cardiofaciocutaneous Syndromes (NS, LS, and CFCS) are developmental disorders w...
Dilated Cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predomin...
Rapid advances in genetics are linking mutations on genes to diseases at an exponential rate, yet ch...
Ras/MAPK pathway signaling is a major participant in neurodevelopment, and evidence suggests that BR...
Cardiofaciocutaneous syndrome (CFCS) is an autosomal-dominant disorder caused by germ-line mutations...
BackgroundCardio-facio-cutaneous syndrome (CFC) is a human multiple congenital anomaly syndrome that...
Mutations in the RAS-RAF-MEK-ERK (MAPK) pathway give rise to a range of developmental disorders coll...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
(L597V)BRAF mutations are acquired somatically in human cancer samples and are frequently coincident...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental disorders w...
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder characterized by distinctive facial featur...
Abstract Noonan, LEOPARD, and cardiofaciocutaneous syndromes (NS, LS, and CFCS) are developmental di...
Noonan, LEOPARD, and cardiofaciocutaneous Syndromes (NS, LS, and CFCS) are developmental disorders w...
Dilated Cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predomin...
Rapid advances in genetics are linking mutations on genes to diseases at an exponential rate, yet ch...
Ras/MAPK pathway signaling is a major participant in neurodevelopment, and evidence suggests that BR...