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 …

[HTML][HTML] TGF-β and BMP signaling pathways in skeletal dysplasia with short and tall stature

A Costantini, A Guasto… - Annual Review of …, 2023 - annualreviews.org
The transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling
pathways play a pivotal role in bone development and skeletal health. More than 30 different …

Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins

S Stanley, Z Balic, D Hubmacher - … of the new York Academy of …, 2021 - Wiley Online Library
Acromelic dysplasias are a group of rare musculoskeletal disorders that collectively present
with short stature, pseudomuscular build, stiff joints, and tight skin. Acromelic dysplasias are …

[HTML][HTML] SMAD3 and SMAD4 have a more dominant role than SMAD2 in TGFβ-induced chondrogenic differentiation of bone marrow-derived mesenchymal stem cells

LMG de Kroon, R Narcisi, GGH Van Den Akker… - Scientific Reports, 2017 - nature.com
To improve cartilage formation by bone marrow-derived mesenchymal stem cells (BMSCs),
the signaling mechanism governing chondrogenic differentiation requires better …

Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

AE Lin, C Michot, V Cormier‐Daire… - American journal of …, 2016 - Wiley Online Library
Myhre syndrome is a rare, distinctive syndrome due to specific gain‐of‐function mutations in
SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features …

[HTML][HTML] Natural history of Myhre syndrome

DD Yang, M Rio, C Michot, N Boddaert… - Orphanet Journal of …, 2022 - Springer
Background Myhre syndrome (MS) is a rare genetic disease characterized by skeletal
disorders, facial features and joint limitation, caused by a gain of function mutation in …

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

D Alankarage, A Enriquez, RD Steiner, C Raggio… - Differentiation, 2022 - Elsevier
Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular,
craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability …

Myhre syndrome: clinical features and restrictive cardiopulmonary complications

LJ Starr, DK Grange, JW Delaney… - American Journal of …, 2015 - Wiley Online Library
Myhre syndrome, a connective tissue disorder characterized by deafness, restricted joint
movement, compact body habitus, and distinctive craniofacial and skeletal features, is …

[HTML][HTML] Pro-fibrotic phenotype in a patient with segmental stiff skin syndrome via TGF-β signaling overactivation

C Fusco, G Nardella, B Augello, F Boccafoschi… - International Journal of …, 2020 - mdpi.com
Transforming growth factor β (TGF-β) superfamily signaling pathways are ubiquitous and
essential for several cellular and physiological processes. The overexpression of TGF-β …

[PDF][PDF] A comprehensive transcriptomic view on the role of SMAD4 gene by RNAi-mediated knockdown in porcine follicular granulosa cells

L Zhang, X Du, S Wei, D Li, Q Li - Reproduction, 2016 - researchgate.net
As a key mediator of the transforming growth factor-beta (TGF-β) signaling pathway, which
plays a pivotal role in regulating mammalian reproductive performance, Sma-and Mad …