[HTML][HTML] TGF-β signaling in health and disease

J Massagué, D Sheppard - Cell, 2023 - cell.com
The TGF-β regulatory system plays crucial roles in the preservation of organismal integrity.
TGF-β signaling controls metazoan embryo development, tissue homeostasis, and injury …

Genetic basis and therapies for vascular anomalies

A Queisser, E Seront, LM Boon, M Vikkula - Circulation research, 2021 - Am Heart Assoc
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

ACMG SF v3. 0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and …

DT Miller, K Lee, WK Chung, AS Gordon… - Genetics in …, 2021 - nature.com
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …

Garetosmab in fibrodysplasia ossificans progressiva: A randomized, double-blind, placebo-controlled phase 2 trial

M Di Rocco, E Forleo-Neto, RJ Pignolo, R Keen… - Nature medicine, 2023 - nature.com
Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by heterotopic
ossification (HO) in connective tissues and painful flare-ups. In the phase 2 LUMINA-1 trial …

TGF-β signaling in control of cardiovascular function

MJ Goumans, P Ten Dijke - Cold Spring Harbor …, 2018 - cshperspectives.cshlp.org
Genetic studies in animals and humans indicate that gene mutations that functionally perturb
transforming growth factor β (TGF-β) signaling are linked to specific hereditary vascular …

Structural biology and evolution of the TGF-β family

AP Hinck, TD Mueller… - Cold Spring Harbor …, 2016 - cshperspectives.cshlp.org
We review the evolution and structure of members of the transforming growth factor β (TGF-
β) family, antagonistic or agonistic modulators, and receptors that regulate TGF-β signaling …

Little fish, big data: zebrafish as a model for cardiovascular and metabolic disease

P Gut, S Reischauer, DYR Stainier… - Physiological …, 2017 - journals.physiology.org
The burden of cardiovascular and metabolic diseases worldwide is staggering. The
emergence of systems approaches in biology promises new therapies, faster and cheaper …

Targeting the myostatin signaling pathway to treat muscle loss and metabolic dysfunction

SJ Lee - The Journal of clinical investigation, 2021 - Am Soc Clin Investig
Since the discovery of myostatin (MSTN; also known as GDF-8) as a critical regulator of
skeletal muscle mass in 1997, there has been an extensive effort directed at understanding …

Bone morphogenetic protein receptor signal transduction in human disease

MC Gomez‐Puerto, PV Iyengar… - The journal of …, 2019 - Wiley Online Library
Bone morphogenetic proteins (BMPs) are secreted cytokines that were initially discovered
on the basis of their ability to induce bone. Several decades of research have now …

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

J McDonald, W Wooderchak-Donahue… - Frontiers in …, 2015 - frontiersin.org
Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by
telangiectases and arteriovenous malformations (AVMs) in particular locations described in …