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 …
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 …
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 …
challenges in classification and treatment. At least 20% of cases are caused by specific …
Structural basis for fibroblast growth factor receptor activation
FGF signaling plays a ubiquitous role in human biology as a regulator of embryonic
development, homeostasis and regenerative processes. In addition, aberrant FGF signaling …
development, homeostasis and regenerative processes. In addition, aberrant FGF signaling …
Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation
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 …
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
Fibroblast growth factor (FGF) signaling is essential for normal and cancer biology.
Mammalian FGF family members participate in multiple signaling pathways by binding to …
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 …
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 …
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 …
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 …
a paradigm for investigating the interplay of genetic and environmental factors leading to …