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 …

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 …

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 …

Pediatric solid and central nervous system tumors are the leading cause of cancer-related
death among children. Identifying new targeted therapies necessitates the use of pediatric …

FGF signaling plays a ubiquitous role in human biology as a regulator of embryonic
development, homeostasis and regenerative processes. In addition, aberrant FGF signaling …

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 …

Fibroblast growth factor (FGF) signaling is essential for normal and cancer biology.
Mammalian FGF family members participate in multiple signaling pathways by binding to …

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 …

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 …

Brain malformations are individually rare but collectively common causes of developmental
disabilities,,. Many forms of malformation occur sporadically and are associated with …