Results 1 to 10 of about 2,361 (178)
RASopathies and cardiac manifestations
Frontiers in Cardiovascular Medicine, 2023 As binary switches, RAS proteins switch to an ON/OFF state during signaling and are on a leash under normal conditions. However, in RAS-related diseases such as cancer and RASopathies, mutations in the genes that regulate RAS signaling or the RAS itself ...
Nazia Hilal +9 more
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Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies [PDF]
Therapeutic Advances in Rare DiseaseBackground: Clinical studies have begun to evaluate therapeutic approaches to address the widespread neurodevelopmental and mental health challenges associated with a group of genetic syndromes known as “RASopathies.” However, the perspectives of ...
Evelyn M. Elizondo +8 more
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The RASopathies: from pathogenetics to therapeutics [PDF]
Disease Models & Mechanisms, 2022 The RASopathies are a group of disorders caused by a germline mutation in one of the genes encoding a component of the RAS/MAPK pathway. These disorders, including neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron +2 more
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Autism Spectrum Disorder Symptom Profile Across the RASopathies
Frontiers in Psychiatry, 2021 Dysregulation of the Ras MAPK signaling pathway is implicated in the pathogenesis of autism spectrum disorder (ASD). The RASopathies, a group of disorders caused by mutations of the Ras/MAPK pathway genes, share many overlapping clinical features ...
Jonathan Green +2 more
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Autism spectrum disorder profiles in RASopathies: A systematic review
Molecular Genetics & Genomic MedicineBackground RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk, while for other RASopathies this association has been studied less.
Edward Debbaut, Jean Steyaert
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Nature Communications, 2021 Mutations in components of the MAP kinase pathway are associated with a group of syndromes known as RASopathies. Here, the authors identify gain-of-function mutations in BRAF in patients with RASopathies and congenital hypopituitarisms.
Angelica Gualtieri +24 more
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RASopathies: From germline mutations to somatic and multigenic diseases
Biomedical Journal, 2021 The RAS-RAF-MEK-ERK signaling pathway is vital for different cellular mechanisms including cell proliferation, differentiation and apoptosis. This importance is highlighted by the high prevalence of mutations in RAS or related proteins of the pathway in ...
Quentin Riller, Frédéric Rieux-Laucat
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Social behavior in RASopathies and idiopathic autism
Journal of Neurodevelopmental Disorders, 2022 Background RASopathies are genetic syndromes that result from pathogenic variants in the RAS-MAPK cellular signaling pathway. These syndromes, which include neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, and Costello syndrome ...
Allison M. H. Foy +3 more
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Disease Models & Mechanisms, 2022 Costello syndrome (CS) is a congenital disorder caused by heterozygous activating germline HRAS mutations in the canonical Ras/mitogen-activated protein kinase (Ras/MAPK) pathway.
William E. Tidyman +4 more
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Hepatic Tumor as Antenatal Presentation of Costello Syndrome
Journal of Health Science and Medical Research (JHSMR), 2021 A large hepatic mixed echoic mass occupying the left fetal abdomen was identified at 266/7 weeks. The mass showed peripheral and internal vascularity. Other ultrasound findings included edema of the fetal head and face, macrosomia, shortened long bones ...
Chusana Petpichetchian +4 more
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