Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway
D Carli, N Resta, GB Ferrero… - American Journal of …, 2022 - Wiley Online Library
Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …
Mosaic rasopathies
C Hafner, L Groesser - Cell Cycle, 2013 - Taylor & Francis
“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 …
symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling …
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
WE Tidyman, KA Rauen - Current opinion in genetics & development, 2009 - Elsevier
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of
the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal …
the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal …
The molecular genetics of RASopathies: An update on novel disease genes and new disorders
M Tartaglia, Y Aoki, BD Gelb - American Journal of Medical …, 2022 - Wiley Online Library
Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK)
cascade underlies the RASopathies, a family of clinically related disorders affecting …
cascade underlies the RASopathies, a family of clinically related disorders affecting …
Pathogenetics of the RASopathies
WE Tidyman, KA Rauen - Human molecular genetics, 2016 - academic.oup.com
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 …
germ-line mutations in genes that encode components or regulators of the Ras/mitogen …
[HTML][HTML] RASopathies: Evolving Concepts in Pathogenetics, Clinical Features, and Management
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 …
genes of the RAS/MAPK (RAT sarcoma virus/Mitogen activated protein kinase) pathway. It …
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
KA Rauen, L Schoyer, L Schill… - American Journal of …, 2018 - Wiley Online Library
This report summarizes and highlights the fifth International RASopathies Symposium: When
Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies …
Development and Cancer Intersect, held in Orlando, Florida in July 2017. The RASopathies …
Clinical manifestations of mutations in RAS and related intracellular signal transduction factors
M Zenker - Current opinion in pediatrics, 2011 - journals.lww.com
Constitutional overactivation at various levels of the RAS–MAPK pathway causes
overlapping syndromes, comprising characteristic facial features, cardiac defects, cutaneous …
overlapping syndromes, comprising characteristic facial features, cardiac defects, cutaneous …
Disorders of the Ras pathway: an introduction
DH Viskochil - American Journal of Medical Genetics Part C …, 2011 - Wiley Online Library
Our knowledge of the Ras pathway stems from experiments on the virusinduced origins of
leukemias and solid tumors that were initiated in the mid-20th century [Gross, 1951; Epstein …
leukemias and solid tumors that were initiated in the mid-20th century [Gross, 1951; Epstein …
Bilateral nephroblastic tumors and a complex renal vascular anomaly in a patient with a mosaic RASopathy: novel histopathologic features and molecular insights
JC Slack, MA Bründler, CA Chang… - Pediatric and …, 2021 - journals.sagepub.com
Mosaic RASopathies are an emerging group of disorders characterized by mosaic or post-
zygotic activating mutations in genes of the RAS/MAPKinase signaling pathway. The …
zygotic activating mutations in genes of the RAS/MAPKinase signaling pathway. The …