Lymphoedema is the swelling of one or several parts of the body owing to lymph
accumulation in the extracellular space. It is often chronic, worsens if untreated, predisposes …

The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

Abstract Noonan syndrome [NS; Mendelian Inheritance in Men (MIM)# 163950] and related
syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD …

Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK)
cascade underlies the RASopathies, a family of clinically related disorders affecting …

SOS1 and SOS2 are the most universal and widely expressed family of guanine exchange
factors (GEFs) capable or activating RAS or RAC1 proteins in metazoan cells. SOS proteins …

RASopathies are a group of developmental multisystemic disorders caused by germline
mutations in genes encoding signal transducers and regulatory proteins functionally linked …

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 …

Congenital heart disease (CHD) and hypertrophic cardiomyopathy (HCM) are common
features in patients affected by RASopathies. The aim of this study was to assess genotype …

Abstract Purpose of Review The Ras/mitogen-activated protein kinase (MAPK) pathway is
essential in the regulation of cell cycle, differentiation, growth, cell senescence and …