A mouse model of Costello syndrome through tissue-specific activation of Kras
نویسندگان
چکیده
منابع مشابه
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چکیده ندارد.
Costello syndrome.
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...
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A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition.
Germline activation of H-RAS oncogenes is the primary cause of Costello syndrome (CS), a neuro-cardio-facio-cutaneous developmental syndrome. Here we describe the generation of a mouse model of CS by introduction of an oncogenic Gly12Val mutation in the mouse H-Ras locus using homologous recombination in ES cells. Germline expression of the endogenous H-RasG12V oncogene, even in homozygosis, re...
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ژورنال
عنوان ژورنال: Developmental Biology
سال: 2008
ISSN: 0012-1606
DOI: 10.1016/j.ydbio.2008.05.434