Zobrazeno 1 - 10
of 482
pro vyhledávání: '"RAS/MAPK pathway"'
Autor:
Masaki Ibe, Shinobu Tamura, Hideki Kosako, Yusuke Yamashita, Masamichi Ishii, Masaoh Tanaka, Hiroyuki Mishima, Akira Kinoshita, Sadahiro Iwabuchi, Shuhei Morita, Ko-ichiro Yoshiura, Shinichi Hashimoto, Naoyuki Nakao, Shigeaki Inoue
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101107- (2024)
Schwannomatosis (SWN) is a rare genetic condition characterized by the risk of developing multiple benign peripheral nerve sheath tumors; however, the risk of developing malignant tumors in patients with SWN remains unclear. This study described the
Externí odkaz:
https://doaj.org/article/d6bb4a2d41504e64bfdb214d0388fb23
Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome
Autor:
Erika K. S. M. Leenders, Lotte E. R. Kleimeier, Lauren C. Weeke, Catelijne H. Coppens, Willemijn M. Klein, Jos M.T. Draaisma
Publikováno v:
Clinical Case Reports, Vol 12, Iss 7, Pp n/a-n/a (2024)
Key Clinical Message We describe a premature hydropic infant with Noonan syndrome and a therapy refractory chylothorax. This was shown to be due to a central conducting lymphatic anomaly. After therapy with a MEK‐inhibitor the infant recovered clin
Externí odkaz:
https://doaj.org/article/06cb028b0c1b45c48f1879088dd467dd
Autor:
Vanessa F. Schmidt, Friedrich G. Kapp, Constantin Goldann, Linda Huthmann, Beatrix Cucuruz, Richard Brill, Veronika Vielsmeier, Caroline T. Seebauer, Armin‐Johannes Michel, Max Seidensticker, Wibke Uller, Jakob B. W. Weiß, Alena Sint, Beate Häberle, Julia Haehl, Alexandra Wagner, Johanna Cordes, Annegret Holm, Denny Schanze, Jens Ricke, Melanie A. Kimm, Walter A. Wohlgemuth, Martin Zenker, Moritz Wildgruber
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 8 (2024)
Background We aimed to correlate alterations in the rat sarcoma virus (RAS)/mitogen‐activated protein kinase pathway in vascular anomalies to the clinical phenotype for improved patient and treatment stratification. Methods and Results This retrosp
Externí odkaz:
https://doaj.org/article/f9b209d81147469d8e7949fb0fe3e887
Autor:
Anna-Grete Juchnewitsch, Kristjan Pomm, Avirup Dutta, Erik Tamp, Anu Valkna, Kristiina Lillepea, Eisa Mahyari, Stanislav Tjagur, Galina Belova, Viljo Kübarsepp, Helen Castillo-Madeen, Antoni Riera-Escamilla, Lisanna Põlluaas, Liina Nagirnaja, Olev Poolamets, Vladimir Vihljajev, Mailis Sütt, Nassim Versbraegen, Sofia Papadimitriou, Robert I. McLachlan, Keith A. Jarvi, Peter N. Schlegel, Sven Tennisberg, Paul Korrovits, Katinka Vigh-Conrad, Moira K. O’Bryan, Kenneth I. Aston, Tom Lenaerts, Donald F. Conrad, Laura Kasak, Margus Punab, Maris Laan
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
RASopathies 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. Patients are typically identified in childhood based on diverse characteristic featur
Externí odkaz:
https://doaj.org/article/a5a26794d89e45529badd269302ae0fc
Publikováno v:
Cells, Vol 13, Iss 14, p 1215 (2024)
Pediatric low-grade gliomas (PLGGs) comprise a heterogeneous set of low-grade glial and glioneuronal tumors, collectively representing the most frequent CNS tumors of childhood and adolescence. Despite excellent overall survival rates, the chronic na
Externí odkaz:
https://doaj.org/article/162838ea0f524b0aadf96adc18bbc27c
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:
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
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 7, Iss 4, Pp 142-145 (2022)
Background: Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disease. Primordial mutations observed are most typically associated with the RAS/MAPK pathway. Recent advances have also uncovered a collection of recur
Externí odkaz:
https://doaj.org/article/f95969173c964531870e00a6187a42d3
Autor:
Chaves Rabelo N, Gomes ME, de Oliveira Moraes I, Cantagalli Pfisterer J, Loss de Morais G, Antunes D, Caffarena ER, Llerena Jr J, Gonzalez S
Publikováno v:
The Application of Clinical Genetics, Vol Volume 15, Pp 153-170 (2022)
Natana Chaves Rabelo,1– 3 Maria Eduarda Gomes,1– 3 Isabelle de Oliveira Moraes,1– 3 Juliana Cantagalli Pfisterer,1– 3 Guilherme Loss de Morais,4 Deborah Antunes,5 Ernesto Raúl Caffarena,6 Juan Llerena Jr,1,2,7,8 Sayonara Gonzalez1– 3 1Cent
Externí odkaz:
https://doaj.org/article/b1c6cf973219438fa3735b0449bab7c8
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
BackgroundLuminal B and triple-negative breast cancer (TNBC) are malignant subtypes of breast cancer (BC), which can be attributed to the multifaceted roles of tissue-derived exosomes (T-exos). Competing endogenous RNA (ceRNA) networks can regulate g
Externí odkaz:
https://doaj.org/article/292b253f209041a5a726180ac3a38305