Cardiomyopathies: an overview

T Ciarambino, G Menna, G Sansone… - International journal of …, 2021 - mdpi.com
Background: Cardiomyopathies are a heterogeneous group of pathologies characterized by
structural and functional alterations of the heart. Aims: The purpose of this narrative review is …

Changing landscape of congenital heart disease

BJ Bouma, BJM Mulder - Circulation research, 2017 - Am Heart Assoc
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 is regulated by MYC-and microbiome-dependent programs

AA Kolodziejczyk, S Federici, N Zmora, G Mohapatra… - Nature medicine, 2020 - nature.com
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 …

The RASopathies: from pathogenetics to therapeutics

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 …

ERK: a key player in the pathophysiology of cardiac hypertrophy

S Gallo, A Vitacolonna, A Bonzano, P Comoglio… - International journal of …, 2019 - mdpi.com
Cardiac hypertrophy is an adaptive and compensatory mechanism preserving cardiac
output during detrimental stimuli. Nevertheless, long-term stimuli incite chronic hypertrophy …

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

KM Boycott, MR Vanstone, DE Bulman… - Nature Reviews …, 2013 - nature.com
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 …

Recent advances in RASopathies

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 …

Ras in cancer and developmental diseases

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 …

GLP-1 receptor activation and Epac2 link atrial natriuretic peptide secretion to control of blood pressure

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 …

The RASopathy family: consequences of germline activation of the RAS/MAPK pathway

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 …