Results 41 to 50 of about 1,575 (156)
Everolimus therapy in an infant with Noonan syndrome with multiple lentigines
Annals of Pediatric CardiologyRASopathies are the most common underlying etiology in infants with hypertrophic cardiomyopathy. An improved understanding of the downstream molecular mechanisms of the disease has enabled us to target therapy for genetic abnormalities in human cancers ...
Mani Ram Krishna +1 more
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Oligodendrocyte Nf1 Controls Aberrant Notch Activation and Regulates Myelin Structure and Behavior
Cell Reports, 2017 Summary: The RASopathy neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. In NF1 patients, neurological issues may result from damaged myelin, and mice with a neurofibromin gene (Nf1) mutation show white matter
Alejandro López-Juárez +10 more
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Coronary arteriopathy in a patient with Noonan phenotype: Case report
Annals of Pediatric CardiologyNoonan syndrome (NS) is a pleomorphic genetic disorder. Up to 50-80% of individuals have associated congenital heart disease. The scope of cardiac disease in NS is quite variable depending on the gene mutation.
Simran Jain +4 more
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Structure‐energy‐based predictions and network modelling of RASopathy and cancer missense mutations
Molecular Systems Biology, 2014 The Ras/MAPK syndromes (‘RASopathies’) are a class of developmental disorders caused by germline mutations in 15 genes encoding proteins of the Ras/mitogen‐activated protein kinase (MAPK) pathway frequently involved in cancer.
Christina Kiel, Luis Serrano
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Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines
Clinical Case Reports, 2023 Key Clinical Message Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy caused by pathogenic variants (PV) predominantly in PTPN11 gene.
Pamela Rivero‐García +2 more
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Clinical overview on
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022 AbstractRASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
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RASopathies in Cardiac Disease
Annual Review of MedicineRASopathies are a group of clinically overlapping autosomal dominant disorders caused primarily by mutations in genes that reside along the canonical Ras–mitogen-activated protein kinase signaling cascade. Though individually rare, collectively, these disorders constitute one of the largest families of congenital disorders worldwide, particularly for ...
Saravanakkumar, Chennappan +1 more
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The Growing Spectrum of Cutaneous RASopathy [PDF]
Journal of Investigative Dermatology, 2016 Groesser et al. demonstrate that pyogenic granuloma is a RAS pathway-driven tumor. This important observation adds yet another manifestation to the growing spectrum of cutaneous "RASopathies" and raises intriguing questions about the relationship between RAS pathway activation and malignancy.
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Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment
JCRPECancer may occur in patients with Noonan syndrome (NS). Review of English literature revealed that myeloproliferative diseases are the most prevalent, followed by intracranial tumours.
Korcan Demir, Kübra Yüksek Acınıklı
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Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort
Frontiers in ImmunologyIntroductionCardiofaciocutaneous syndrome (CFCS) is a rare syndromic disorder caused by germline mutations affecting the RAS/MAPK pathway. It is characterized by distinctive craniofacial dysmorphism, congenital heart defects, skin abnormalities ...
Benedetta Elena Di Majo +45 more
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