The fibroblast growth factor signaling pathway

DM Ornitz, N Itoh - Wiley Interdisciplinary Reviews …, 2015 - Wiley Online Library
The signaling component of the mammalian Fibroblast Growth Factor (FGF) family is
comprised of eighteen secreted proteins that interact with four signaling tyrosine kinase FGF …

Mendelian inheritance revisited: dominance and recessiveness in medical genetics

J Zschocke, PH Byers, AOM Wilkie - Nature Reviews Genetics, 2023 - nature.com
Understanding the consequences of genotype for phenotype (which ranges from molecule-
level effects to whole-organism traits) is at the core of genetic diagnostics in medicine. Many …

Craniosynostosis

D Johnson, AOM Wilkie - European Journal of Human Genetics, 2011 - nature.com
Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many
challenges in classification and treatment. At least 20% of cases are caused by specific …

Structural basis for fibroblast growth factor receptor activation

M Mohammadi, SK Olsen, OA Ibrahimi - Cytokine & growth factor reviews, 2005 - Elsevier
FGF signaling plays a ubiquitous role in human biology as a regulator of embryonic
development, homeostasis and regenerative processes. In addition, aberrant FGF signaling …

Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation

KD Sullivan, D Evans, A Pandey, TH Hraha, KP Smith… - Scientific reports, 2017 - nature.com
Abstract Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21
produces the different disease spectrum observed in people with DS are unknown. We …

[HTML][HTML] Molecular and clinical significance of fibroblast growth factor 2 (FGF2/bFGF) in malignancies of solid and hematological cancers for personalized therapies

MR Akl, P Nagpal, NM Ayoub, B Tai, SA Prabhu… - Oncotarget, 2016 - ncbi.nlm.nih.gov
Fibroblast growth factor (FGF) signaling is essential for normal and cancer biology.
Mammalian FGF family members participate in multiple signaling pathways by binding to …

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

GM Morriss‐Kay, AOM Wilkie - Journal of anatomy, 2005 - Wiley Online Library
The mammalian skull vault is constructed principally from five bones: the paired frontals and
parietals, and the unpaired interparietal. These bones abut at sutures, where most growth of …

Molecular mechanisms of fibroblast growth factor signaling in physiology and pathology

AA Belov, M Mohammadi - Cold Spring Harbor …, 2013 - cshperspectives.cshlp.org
Fibroblast growth factors (FGFs) signal in a paracrine or endocrine fashion to mediate a
myriad of biological activities, ranging from issuing developmental cues, maintaining tissue …

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

JB Rivière, BWM Van Bon, A Hoischen… - Nature …, 2012 - nature.com
Brain malformations are individually rare but collectively common causes of developmental
disabilities,,. Many forms of malformation occur sporadically and are associated with …

[PDF][PDF] 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 …