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Page 1
The RASopathies: from pathogenetics to therapeutics.
Hebron KE, Hernandez ER, Yohe ME. Hebron KE, et al. Dis Model Mech. 2022 Feb 1;15(2):dmm049107. doi: 10.1242/dmm.049107. Epub 2022 Feb 18. Dis Model Mech. 2022. PMID: 35178568 Free PMC article. Review.
In this Review, we discuss the pathogenesis of the RASopathy-associated genetic variants and the knowledge gained about RAS/MAPK signaling that resulted from studying RASopathies. We also describe the cell and animal models of the RASopathies and explore emer …
In this Review, we discuss the pathogenesis of the RASopathy-associated genetic variants and the knowledge gained about RAS/MAPK sign …
RAS Proteins and Their Regulators in Human Disease.
Simanshu DK, Nissley DV, McCormick F. Simanshu DK, et al. Cell. 2017 Jun 29;170(1):17-33. doi: 10.1016/j.cell.2017.06.009. Cell. 2017. PMID: 28666118 Free PMC article. Review.
These switches are normally tightly controlled, but in RAS-related diseases, such as cancer, RASopathies, and many psychiatric disorders, mutations in the RAS genes or their regulators render RAS proteins persistently active. ...
These switches are normally tightly controlled, but in RAS-related diseases, such as cancer, RASopathies, and many psychiatric disord …
RASopathies.
Jafry M, Sidbury R. Jafry M, et al. Clin Dermatol. 2020 Jul-Aug;38(4):455-461. doi: 10.1016/j.clindermatol.2020.03.010. Epub 2020 Apr 1. Clin Dermatol. 2020. PMID: 32972603 Review.
RASopathies are a group of disorders characterized by mutations in the RAS-MAPK pathway. ...Germline mutations can result in distinctive syndromes, including Noonan syndrome, Costello syndrome, and neurofibromatosis type 1. Mosaic RASopathies can present as localize …
RASopathies are a group of disorders characterized by mutations in the RAS-MAPK pathway. ...Germline mutations can result in distinct …
The RASopathies.
Rauen KA. Rauen KA. Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Annu Rev Genomics Hum Genet. 2013. PMID: 23875798 Free PMC article. Review.
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) pathway. ...The use of these molecules to ameliorate developmental defe …
The RASopathies are a clinically defined group of medical genetic syndromes caused by germline mutations in genes that encode compone …
Emerging therapeutic targets for neurofibromatosis type 1.
Walker JA, Upadhyaya M. Walker JA, et al. Expert Opin Ther Targets. 2018 May;22(5):419-437. doi: 10.1080/14728222.2018.1465931. Epub 2018 May 7. Expert Opin Ther Targets. 2018. PMID: 29667529 Free PMC article. Review.
The heart in RASopathies.
Delogu AB, Limongelli G, Versacci P, Adorisio R, Kaski JP, Blandino R, Maiolo S, Monda E, Putotto C, De Rosa G, Chatfield KC, Gelb BD, Calcagni G. Delogu AB, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):440-451. doi: 10.1002/ajmg.c.32014. Epub 2022 Nov 21. Am J Med Genet C Semin Med Genet. 2022. PMID: 36408797 Review.
The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. Because of the common underlying RAS/MAPK pathway …
The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosi …
Genomics of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes.
Patnaik MM, Lasho TL. Patnaik MM, et al. Hematology Am Soc Hematol Educ Program. 2020 Dec 4;2020(1):450-459. doi: 10.1182/hematology.2020000130. Hematology Am Soc Hematol Educ Program. 2020. PMID: 33275756 Free PMC article. Review.
MDS/MPN-RS-T demonstrates features of SF3B1-mutant MDS with ring sideroblasts (MDS-RS), with the development of thrombocytosis secondary to the acquisition of signaling mutations, most commonly JAK2V617F. JMML, the only pediatric entity, is a bona fide RASopathy, with germ …
MDS/MPN-RS-T demonstrates features of SF3B1-mutant MDS with ring sideroblasts (MDS-RS), with the development of thrombocytosis secondary to …
New developments in the genetic diagnosis of short stature.
Jee YH, Baron J, Nilsson O. Jee YH, et al. Curr Opin Pediatr. 2018 Aug;30(4):541-547. doi: 10.1097/MOP.0000000000000653. Curr Opin Pediatr. 2018. PMID: 29787394 Free PMC article. Review.
RECENT FINDINGS: In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, ACAN, NPPC, NPR2, PTPN11 (and other rasopathies), FBN1, IHH and BMP2 have been identified in isolated growth disorders with or without other mild skele …
RECENT FINDINGS: In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, ACAN, NPPC, NPR2, …
ERK: A Key Player in the Pathophysiology of Cardiac Hypertrophy.
Gallo S, Vitacolonna A, Bonzano A, Comoglio P, Crepaldi T. Gallo S, et al. Int J Mol Sci. 2019 May 1;20(9):2164. doi: 10.3390/ijms20092164. Int J Mol Sci. 2019. PMID: 31052420 Free PMC article. Review.
Finally, we examine the connection between ERK activation and hypertrophy in (i) transgenic mice overexpressing constitutively activated RTKs (receptor tyrosine kinases), (ii) animal models with mutated sarcomeric proteins characteristic of inherited hypertrophic cardiomyopathies …
Finally, we examine the connection between ERK activation and hypertrophy in (i) transgenic mice overexpressing constitutively activated RTK …
169 results