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10.1093/hmg/ddv435

http://scihub22266oqcxt.onion/10.1093/hmg/ddv435
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26472072!ä!26472072

suck abstract from ncbi


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pmid26472072      Hum+Mol+Genet 2015 ; 24 (25): 7349-60
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  • Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype #MMPMID26472072
  • Moriya M; Inoue S; Miyagawa-Tomita S; Nakashima Y; Oba D; Niihori T; Hashi M; Ohnishi H; Kure S; Matsubara Y; Aoki Y
  • Hum Mol Genet 2015[Dec]; 24 (25): 7349-60 PMID26472072show ga
  • Activation of the RAS pathway has been implicated in oncogenesis and developmental disorders called RASopathies. Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (CFC) syndrome, which is characterized by congenital heart defects, distinctive facial features, short stature and ectodermal abnormalities. We recently demonstrated that mice expressing a Braf Q241R mutation, which corresponds to the most frequent BRAF mutation (Q257R) in CFC syndrome, on a C57BL/6J background are embryonic/neonatal lethal, with multiple congenital defects, preventing us from analyzing the phenotypic consequences after birth. Here, to further explore the pathogenesis of CFC syndrome, we backcrossed these mice onto a BALB/c or ICR/CD-1 genetic background. On a mixed (BALB/c and C57BL/6J) background, all heterozygous Braf(Q241R/+) mice died between birth and 24 weeks and exhibited growth retardation, sparse and ruffled fur, liver necrosis and atrial septal defects (ASDs). In contrast, 31% of the heterozygous Braf(Q241R/+) ICR mice survived over 74 weeks. The surviving Braf(Q241R/+) ICR mice exhibited growth retardation, sparse and ruffled fur, a hunched appearance, craniofacial dysmorphism, long and/or dystrophic nails, extra digits and ovarian cysts. The Braf(Q241R/+) ICR mice also showed learning deficits in the contextual fear-conditioning test. Echocardiography indicated the presence of pulmonary stenosis and ASDs in the Braf(Q241R/+) ICR mice, which were confirmed by histological analysis. These data suggest that the heterozygous Braf(Q241R/+) ICR mice show similar phenotypes as CFC syndrome after birth and will be useful for elucidating the pathogenesis and potential therapeutic strategies for RASopathies.
  • |Animals[MESH]
  • |Blotting, Western[MESH]
  • |Echocardiography[MESH]
  • |Ectodermal Dysplasia/genetics[MESH]
  • |Facies[MESH]
  • |Failure to Thrive/genetics[MESH]
  • |Female[MESH]
  • |Genotype[MESH]
  • |Heart Defects, Congenital/genetics[MESH]
  • |Male[MESH]
  • |Mice[MESH]
  • |Mice, Inbred BALB C[MESH]
  • |Microscopy, Electron[MESH]
  • |Mutation/genetics[MESH]


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