Congenital heart disease is the most frequently occurring congenital disorder affecting≈ 0.8% of live births. Thanks to great efforts and technical improvements, including the …
Acute liver failure (ALF) is a fulminant complication of multiple etiologies, characterized by rapid hepatic destruction, multi-organ failure and mortality. ALF treatment is mainly limited to …
KE Hebron, ER Hernandez… - Disease models & …, 2022 - journals.biologists.com
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 …
Work over the past 25 years has resulted in the identification of genes responsible for~ 50% of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …
Y Aoki, T Niihori, S Inoue, Y Matsubara - Journal of human genetics, 2016 - nature.com
RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of phenotypically overlapping syndromes caused by germline mutations that encode …
A Fernández-Medarde, E Santos - Genes & cancer, 2011 - journals.sagepub.com
Somatic, gain-of-function mutations in ras genes were the first specific genetic alterations identified in human cancer about 3 decades ago. Studies during the last quarter century …
M Kim, MJ Platt, T Shibasaki, SE Quaggin, PH Backx… - Nature medicine, 2013 - nature.com
Abstract Glucagon-like peptide-1 receptor (GLP-1R) agonists exert antihypertensive actions through incompletely understood mechanisms. Here we demonstrate that cardiac Glp1r …
M Tajan, R Paccoud, S Branka, T Edouard… - Endocrine …, 2018 - academic.oup.com
Abstract Noonan syndrome [NS; Mendelian Inheritance in Men (MIM)# 163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD …