[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 …
TGF-β signaling controls metazoan embryo development, tissue homeostasis, and injury …
BMP signalling in skeletal development, disease and repair
VS Salazar, LW Gamer, V Rosen - Nature Reviews Endocrinology, 2016 - nature.com
Since the identification in 1988 of bone morphogenetic protein 2 (BMP2) as a potent inducer
of bone and cartilage formation, BMP superfamily signalling has become one of the most …
of bone and cartilage formation, BMP superfamily signalling has become one of the most …
[HTML][HTML] Cell fate decisions, transcription factors and signaling during early retinal development
R Diacou, P Nandigrami, A Fiser, W Liu… - Progress in retinal and …, 2022 - Elsevier
The development of the vertebrate eyes is a complex process starting from anterior-posterior
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …
and dorso-ventral patterning of the anterior neural tube, resulting in the formation of the eye …
TGF-β/TGF-β receptor system and its role in physiological and pathological conditions
JF Santibañez, M Quintanilla, C Bernabeu - Clinical science, 2011 - portlandpress.com
The TGF-β (transforming growth factor-β) system signals via protein kinase receptors and
Smad mediators to regulate a plethora of biological processes, including morphogenesis …
Smad mediators to regulate a plethora of biological processes, including morphogenesis …
The genetic architecture of microphthalmia, anophthalmia and coloboma
KA Williamson, DR FitzPatrick - European journal of medical genetics, 2014 - Elsevier
Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent
a continuum of structural developmental eye defects. In severe bilateral cases …
a continuum of structural developmental eye defects. In severe bilateral cases …
The oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders
A Patel, JD Hayward, V Tailor, R Nyanhete, H Ahlfors… - Ophthalmology, 2019 - Elsevier
Purpose To develop a comprehensive next-generation sequencing panel assay that
screens genes known to cause developmental eye disorders and inherited eye disease and …
screens genes known to cause developmental eye disorders and inherited eye disease and …
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
J Plaisancié, F Ceroni, R Holt, C Zazo Seco, P Calvas… - Human Genetics, 2019 - Springer
Eye formation is the result of coordinated induction and differentiation processes during
embryogenesis. Disruption of any one of these events has the potential to cause ocular …
embryogenesis. Disruption of any one of these events has the potential to cause ocular …
Klippel-Feil syndrome: a review of the literature
R Frikha - Clinical Dysmorphology, 2020 - journals.lww.com
Klippel-Feil syndrome is a congenital defect in the formation or segmentation of the cervical
spine. A wide spectrum of associated anomalies may be present. This heterogeneity has …
spine. A wide spectrum of associated anomalies may be present. This heterogeneity has …
Clinical, genetic and environmental factors associated with congenital vertebral malformations
PF Giampietro, CL Raggio, RD Blank… - Molecular …, 2013 - karger.com
Congenital vertebral malformations (CVM) pose a significant health problem because they
can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in …
can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in …
Prodomains regulate the synthesis, extracellular localisation and activity of TGF-β superfamily ligands
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 …
consisting of a signal peptide, an N-terminal prodomain and a C-terminal mature domain …