Zobrazeno 1 - 10
of 955
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
Autor:
Maria Felicia Faienza, Giovanni Meliota, Donatella Mentino, Romina Ficarella, Mattia Gentile, Ugo Vairo, Gabriele D’amato
Publikováno v:
Genes, Vol 15, Iss 8, p 1015 (2024)
Cardiac involvement is a major feature of RASopathies, a group of phenotypically overlapping syndromes caused by germline mutations in genes encoding components of the RAS/MAPK (mitogen-activated protein kinase) signaling pathway. In particular, Noon
Externí odkaz:
https://doaj.org/article/08646ab64021474b840f537db33105ee
Autor:
Noemi Ferrito, Juan Báez-Flores, Mario Rodríguez-Martín, Julián Sastre-Rodríguez, Alessio Coppola, María Isidoro-García, Pablo Prieto-Matos, Jesus Lacal
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8563 (2024)
RASopathies are a group of related genetic disorders caused by mutations in genes within the RAS/MAPK signaling pathway. This pathway is crucial for cell division, growth, and differentiation, and its disruption can lead to a variety of developmental
Externí odkaz:
https://doaj.org/article/77a15fd02540400c99f020faeb01582e
Autor:
Bryony J. Lucas, Jeremy S. Connors, Heping Wang, Shannon Conneely, Branko Cuglievan, Miriam B. Garcia, Rachel E. Rau
Publikováno v:
Cancers, Vol 16, Iss 15, p 2749 (2024)
Juvenile Myelomonocytic Leukemia (JMML) is a rare and clonal hematopoietic disorder of infancy and early childhood with myeloproliferative/myelodysplastic features resulting from germline or somatic mutations in the RAS pathway. Treatment is not unif
Externí odkaz:
https://doaj.org/article/1033d927410c481bbd523f842043fae4
Akademický článek
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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