منابع مشابه
Pulmonary Hypertension in the RASopathies
The RASopathies are a class of developmental disorders caused by a genetic mutation in the Ras signaling pathway and associated mitogen-activated protein kinases that control the cell cycle, differentiation and senescence. These diseases encompass a diverse set of clinical syndromes including neurofibromatosis type 1 and Noonan syndrome. Although the pathophysiological manifestations of these c...
متن کاملAutism traits in the RASopathies.
BACKGROUND Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFC). Previous work has suggested potential genetic and phenotypic overlap between dysregulation of Ras/MAPK signalling and autism spec...
متن کاملManagement of rasopathies
Noonan syndrome (NS) and NS-related disorders (Cardio-Facio-Cutaneous (CFC) syndrome, Costello syndrome, LEOPARD (Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth and sensory neural Deafness) syndrome) share common clinical features characterized by unique facial features, postnatal growth failure, psychomotor retardati...
متن کاملRASopathies: unraveling mechanisms with animal models
RASopathies are developmental disorders caused by germline mutations in the Ras-MAPK pathway, and are characterized by a broad spectrum of functional and morphological abnormalities. The high incidence of these disorders (∼1/1000 births) motivates the development of systematic approaches for their efficient diagnosis and potential treatment. Recent advances in genome sequencing have greatly fac...
متن کاملThe role of immune abnormality in depression and cardiovascular disease
Depression and cardiovascular disease (CVD) are both highly prevalent disorders, and some evidence shows that there is a 'vicious cycle' linking major depression and CVD. There is also growing evidence that immune abnormalities underpin the common pathophysiology of both CVD and major depression. The abnormalities include the following: abnormal levels of inflammatory markers, such as interleuk...
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ژورنال
عنوان ژورنال: Pediatric Cardiology and Cardiac Surgery
سال: 2019
ISSN: 0911-1794,2187-2988
DOI: 10.9794/jspccs.35.132