Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis

Y Takahata, H Hagino, A Kimura, M Urushizaki… - International Journal of …, 2022 - mdpi.com
Owing to the rapid aging of society, the numbers of patients with joint disease continue to
increase. Accordingly, a large number of patients require appropriate treatment for …

TGF-β family signaling in connective tissue and skeletal diseases

EG MacFarlane, J Haupt… - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
The transforming growth factor β (TGF-β) family of signaling molecules, which includes TGF-
βs, activins, inhibins, and numerous bone morphogenetic proteins (BMPs) and growth and …

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel‐Feil syndrome

M Tassabehji, ZM Fang, EN Hilton… - Human …, 2008 - Wiley Online Library
Klippel‐Feil syndrome (KFS) is a congenital disorder of spinal segmentation distinguished
by the bony fusion of anterior/cervical vertebrae. Scoliosis, mirror movements …

Brachydactyly

SA Temtamy, MS Aglan - Orphanet journal of rare diseases, 2008 - Springer
Abstract Brachydactyly (" short digits") is a general term that refers to disproportionately short
fingers and toes, and forms part of the group of limb malformations characterized by bone …

A single residue of GDF-5 defines binding specificity to BMP receptor IB

J Nickel, A Kotzsch, W Sebald, TD Mueller - Journal of molecular biology, 2005 - Elsevier
Growth and differentiation factor 5 (GDF-5), a member of the TGF-β superfamily, is involved
in many developmental processes, like chondrogenesis and joint formation. Mutations in …

Prodomains regulate the synthesis, extracellular localisation and activity of TGF-β superfamily ligands

CA Harrison, SL Al-Musawi, KL Walton - Growth factors, 2011 - Taylor & Francis
All transforming growth factor-β (TGF-β) ligands are synthesised as precursor molecules
consisting of a signal peptide, an N-terminal prodomain and a C-terminal mature domain …

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

J Hellemans, PJ Coucke, A Giedion… - The American Journal of …, 2003 - cell.com
Acrocapitofemoral dysplasia is a recently delineated autosomal recessive skeletal
dysplasia, characterized clinically by short stature with short limbs and radiographically by …

The genetic epidemiology of joint shape and the development of osteoarthritis

JM Wilkinson, E Zeggini - Calcified tissue international, 2021 - Springer
Congruent, low-friction relative movement between the articulating elements of a synovial
joint is an essential pre-requisite for sustained, efficient, function. Where disorders of joint …

[HTML][HTML] Regulation of TGFβ and related signals by precursor processing

DB Constam - Seminars in cell & developmental biology, 2014 - Elsevier
Secreted cytokines of the TGFβ family are found in all multicellular organisms and implicated
in regulating fundamental cell behaviors such as proliferation, differentiation, migration and …

Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study

J Dai, D Shi, P Zhu, J Qin, H Ni, Y Xu, C Yao… - Arthritis research & …, 2008 - Springer
Introduction Congenital dysplasia of the hip is an abnormal seating of the femoral head in
the acetabulum, mainly caused by shallow acetabulum and lax joint capsule. Genetic factors …