A genetic-pathophysiological framework for craniosynostosis

SRF Twigg, AOM Wilkie - The American Journal of Human Genetics, 2015 - cell.com
Craniosynostosis, the premature fusion of one or more cranial sutures of the skull, provides
a paradigm for investigating the interplay of genetic and environmental factors leading to …

FGF signaling in the developing endochondral skeleton

DM Ornitz - Cytokine & growth factor reviews, 2005 - Elsevier
Mutations in fibroblast growth factor receptors (Fgfrs) are the etiology of many
craniosynostosis and chondrodysplasia syndromes in humans. The phenotypes associated …

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations

AOM Wilkie - Cytokine & growth factor reviews, 2005 - Elsevier
The discovery in 1994 that highly specific mutations of fibroblast growth factor (FGF) receptor
3 caused the most common form of human short-limbed dwarfism, achondroplasia, heralded …

Analysis of the biochemical mechanisms for the endocrine actions of fibroblast growth factor-23

X Yu, OA Ibrahimi, R Goetz, F Zhang, SI Davis… - …, 2005 - academic.oup.com
Fibroblast growth factor (FGF)-23 has emerged as an endocrine regulator of phosphate and
of vitamin D metabolism. It is produced in bone and, unlike other FGFs, circulates in the …

Insights into the molecular basis for fibroblast growth factor receptor autoinhibition and ligand-binding promiscuity

SK Olsen, OA Ibrahimi, A Raucci… - Proceedings of the …, 2004 - National Acad Sciences
The prototypical fibroblast growth factor receptor (FGFR) extracellular domain consists of
three Ig domains (D1–D3) of which the two membrane-proximal D2 and D3 domains and the …

Cell responses to FGFR3 signalling: growth, differentiation and apoptosis

CGM L'Hôte, MA Knowles - Experimental cell research, 2005 - Elsevier
FGFR3 is a receptor tyrosine kinase (RTK) of the FGF receptor family, known to have a
negative regulatory effect on long bone growth. Fgfr3 knockout mice display longer bones …

Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications

T Helsten, M Schwaederle, R Kurzrock - Cancer and Metastasis Reviews, 2015 - Springer
Fibroblast growth factors (FGFs) and their receptors (FGFRs) are transmembrane growth
factor receptors with wide tissue distribution. FGF/FGFR signaling is involved in neoplastic …

Kinetic model for FGF, FGFR, and proteoglycan signal transduction complex assembly

OA Ibrahimi, F Zhang, SC Lang Hrstka… - Biochemistry, 2004 - ACS Publications
The current working model for fibroblast growth factor receptor (FGFR) dimerization and
activation requires the assembly of a ternary complex of fibroblast growth factor (FGF) …

Structural basis by which alternative splicing modulates the organizer activity of FGF8 in the brain

SK Olsen, JYH Li, C Bromleigh… - Genes & …, 2006 - genesdev.cshlp.org
Two of the four human FGF8 splice isoforms, FGF8a and FGF8b, are expressed in the mid-
hindbrain region during development. Although the only difference between these isoforms …

A protein canyon in the FGF–FGF receptor dimer selects from an a la carte menu of heparan sulfate motifs

M Mohammadi, SK Olsen, R Goetz - Current opinion in structural biology, 2005 - Elsevier
Heparan sulfate (HS) is an essential and dynamic regulator of fibroblast growth factor (FGF)
signaling. Two fundamentally different crystallographic models have been proposed to …