Zobrazeno 1 - 10
of 947
pro vyhledávání: '"Rasopathies"'
Publikováno v:
Indian Dermatology Online Journal, Vol 15, Iss 3, Pp 392-404 (2024)
RASopathies refers to the group of disorders which are caused by a mutation in various genes of the RAS/MAPK (RAT sarcoma virus/Mitogen activated protein kinase) pathway. It includes many genes with varied functions, which are responsible for cell cy
Externí odkaz:
https://doaj.org/article/639ed3d64b764ff29cc1ec348bf794aa
Autor:
Giulia Fasano, Stefania Petrini, Valeria Bonavolontà, Graziamaria Paradisi, Catia Pedalino, Marco Tartaglia, Antonella Lauri
Publikováno v:
Molecular Medicine, Vol 30, Iss 1, Pp 1-22 (2024)
Abstract Background RASopathies are genetic syndromes affecting development and having variable cancer predisposition. These disorders are clinically related and are caused by germline mutations affecting key players and regulators of the RAS-MAPK si
Externí odkaz:
https://doaj.org/article/7a729a03da08403eb3305e703b20dc15
Treatment of RAF1-Related Obstructive Hypertrophic Cardiomyopathy by MEK Inhibition Using Trametinib
Autor:
Omid Kiamanesh, MD, Steven C. Greenway, MD, Franciscus Dicke, MD, MBA, Brennan Ballantyne, MD, Sasha Mitrovic, RDCS, Kaitlin McGrath, MD, James A. White, MD, William D.T. Kent, MD, Gregor Andelfinger, MD
Publikováno v:
JACC: Case Reports, Vol 29, Iss 13, Pp 102379- (2024)
RASopathies cause nonsarcomeric hypertrophic cardiomyopathy via dysregulated signaling through RAS and upregulated mitogen-activated protein kinase activity. We provide the first report of the successful treatment of an adult with RAF1-associated hyp
Externí odkaz:
https://doaj.org/article/9cbf8ae779bf410c9b90d4e76e614784
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
BackgroundCardio-Facio-Cutaneous syndrome (CFCS) is a rare autosomal dominant genetic disorder primarily caused by BRAF gene mutations, posing diagnostic challenges due to its multifaceted clinical presentation.ObjectiveTo elucidate the clinical char
Externí odkaz:
https://doaj.org/article/af4993733e3c477eb0d07d888fd32b0b
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The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
Autor:
Dagmar K. Tiemens, Lotte Kleimeier, Erika Leenders, Ellen Wingbermühle, Renee L. Roelofs, Barbara Sibbles, Floor S.M. Oostwegel, Eva Vroonland, Conny van Leeuwen, Hanneke Niessen, Paul Sonnega, Anniek Duursma, Michel A. A. P. Willemsen, Jos M. T. Draaisma, Carina A.C.M. Pittens
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Noonan syndrome spectrum disorders (NSSDs) constitute a group within the Rasopathies, and are one of the largest groups of syndromes with impact on multi-organ involvement known. The extreme variability of the clinical phenotype i
Externí odkaz:
https://doaj.org/article/8e92a1191a724fcd889347982f848af1
Autor:
Nikolai H. Jung, Silvia Egert-Schwender, Beate Schossow, Victoria Kehl, Ute Wahlländer, Louisa Brich, Viktoria Janke, Christiane Blankenstein, Martin Zenker, Volker Mall
Publikováno v:
Trials, Vol 24, Iss 1, Pp 1-10 (2023)
Abstract Background Cognitive impairment is a common medical issue in rat sarcoma (RAS) pathway disorders, so-called RASopathies, like Neurofibromatosis type 1 (NF1) or Noonan syndrome (NS). It is presumed to be caused by impaired synaptic plasticity
Externí odkaz:
https://doaj.org/article/362ee27951db413db44a603dd464d8cc
Autor:
Mario Rodríguez-Martín, Juan Báez-Flores, Vanessa Ribes, María Isidoro-García, Jesus Lacal, Pablo Prieto-Matos
Publikováno v:
Biomedicines, Vol 12, Iss 4, p 841 (2024)
RASopathies, a group of neurodevelopmental congenital disorders stemming from mutations in the RAS/MAPK pathway, present a unique opportunity to delve into the intricacies of complex neurological disorders. Afflicting approximately one in a thousand
Externí odkaz:
https://doaj.org/article/4c8aa995b5554e85b9935a3d60f683db
Autor:
Anna Papadopoulou, Evangelia Bountouvi
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these
Externí odkaz:
https://doaj.org/article/cd41a0c77fbb4190b6ae856d87fa5056
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-8 (2022)
Abstract Background Noonan syndrome (NS) is a clinically and genetically heterogeneous disorder. Since its clinical phenotype is often mild and difficult to differentiate from other syndromes, its diagnosis can be challenging and its prevalence in th
Externí odkaz:
https://doaj.org/article/a1e67435f6bd4d43877dbc9b1307a7c4