Results 11 to 20 of about 1,575 (156)
Trametinib Therapy for Hypertrophic Cardiomyopathy and Pulmonary Hypertension in a Child With RAF1‐Related Noonan Syndrome (p.Ser257Leu): A Case Report [PDF]
Clinical Case ReportsThis case describes a female infant with RAF1‐related Noonan syndrome who developed severe hypertrophic obstructive cardiomyopathy, pulmonary hypertension, and cardiorespiratory failure that responded to trametinib treatment but ultimately progressed to ...
C. Noah Nilsson +8 more
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Undiagnosed RASopathies in infertile men [PDF]
Frontiers in EndocrinologyRASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000.
Anna-Grete Juchnewitsch +40 more
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Giant Cell Lesions of the Jaws Involving RASopathy Syndromes
Acta Stomatologica Croatica, 2022 Objective: Giant cell lesions of the jaws (GCLJ) may rarely occur in the setting of RASopathy syndromes such as Noonan syndrome or neurofibromatosis I. Recently, central giant cell granulomas (CGCG), the most common of the GCLJ, have been recognized as ...
Melissa Luna +3 more
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Orphanet Journal of Rare Diseases, 2021 Background RASopathies are a group of syndromes showing clinical overlap caused by mutations in genes affecting the RAS-MAPK pathway. Consequent disruption on cellular signaling leads and is driven by phosphoproteome remodeling.
Javier-Fernando Montero-Bullón +3 more
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Pathogenetics of the RASopathies [PDF]
Human Molecular Genetics, 2016 The RASopathies are defined as a group of medical genetics syndromes that are caused by germ-line mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. Taken together, the RASopathies represent one of the most prevalent groups of malformation syndromes affecting greater than 1 in 1,000 ...
William E, Tidyman, Katherine A, Rauen
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Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. [PDF]
PLoS Genetics, 2017 Although gene-gene interaction, or epistasis, plays a large role in complex traits in model organisms, genome-wide by genome-wide searches for two-way interaction have limited power in human studies.
Ileena Mitra +7 more
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Expansion of the RASopathies [PDF]
Current Genetic Medicine Reports, 2016 The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of cell cycle, differentiation, growth, cell senescence and apoptosis, all of which are critical to normal development. A class of neurodevelopmental disorders, RASopathies, is caused by germline mutations in genes of the Ras/MAPK pathway.
William E, Tidyman, Katherine A, Rauen
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Frontiers in Pediatrics, 2022 Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway.
Aleksandra Szczawińska-Popłonyk +7 more
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Cell Cycle, 2012 "RASopathies" are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline ...
Christian, Hafner, Leopold, Groesser
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A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy
Case Reports in Neurology, 2021 We report a 45-year-old female with clinical features resembling Noonan syndrome (NS) who presented with significant nerve root hypertrophy. She was initially diagnosed with Charcot-Marie-Tooth disease because her gait disturbance gradually deteriorated ...
Yoshihito Ando +4 more
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