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The fibroblast growth factors (FGFs) represent one of the relatively few families of extracellular signalling peptides that have been shown in recent decades to be key regulators of metazoan development. FGFs are required for multiple processes in both protostome and deuterostome groups. Given the wide range of regulatory roles attributed to the FGFs, it is perhaps not surprising that misregulation of this signalling pathway has been implicated in a number of human disease conditions. The focus of the present review is to look at the fundamental components of the FGF pathway and illustrate how this highly conserved regulatory cassette has been deployed to regulate multiple, diverse processes during vertebrate development. This review will explore examples from several vertebrate model organisms and include discussions of the role of FGF signalling in regulating the establishment of the mesoderm, neural patterning, morphogenesis, myogenesis, limb development, and the establishment of right-left asymmetry.
Fibroblast growth factors. --- Vertebrates -- Development. --- Vertebrates -- Growth & development. --- Fibroblast Growth Factors --- Chordata --- Intercellular Signaling Peptides and Proteins --- Animals --- Biological Factors --- Proteins --- Eukaryota --- Peptides --- Amino Acids, Peptides, and Proteins --- Organisms --- Chemicals and Drugs --- Fibroblast Growth Factor 1 --- Vertebrates --- Zoology --- Human Anatomy & Physiology --- Health & Biological Sciences --- Animal Biochemistry --- Animal Anatomy & Embryology --- Growth factors. --- Growth. --- Fibroblast Growth Factors. --- growth & development. --- Fibroblast growth factor --- Mesoderm --- Neurectoderm --- Xenopus --- Organogenesis --- Somites --- Limb --- MyoD --- Somitogenesis --- Morphogenesis --- Left-right asymmetry --- MAPK --- Sprouty --- ERK --- Map kinase phosphatase --- Signal transduction
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In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics.
Research & information: general --- Biology, life sciences --- Genetics (non-medical) --- spinal curvatures --- scoliosis --- idiopathic --- DNA methylation --- pyrosequencing --- estrogen receptor 1 --- ESR1 --- scoliosis progression --- adolescent idiopathic scoliosis --- idiopathic scoliosis --- exome sequencing --- spine --- polygenic --- variants --- musculoskeletal disease --- cytoskeleton --- extracellular matrix --- contracture --- arthrogryposis --- congenital --- POC5 --- cilia --- genetics --- spine deformity --- genetic predisposition --- complex trait --- model animal --- genome wide association study --- genetic linkage study --- Amyoplasia --- DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) --- CNV (copy number variant) --- DA (distal arthrogryposis) --- IPA (ingenuity pathway analysis) --- HPO (human phenotype ontology) --- akinesia --- MYOD --- IGF2 --- FGFR1 (Fibroblast growth factor receptor 1) --- genetic variations --- congenital scoliosis --- monozygotic twin --- epigenome-wide association study --- bone --- discordant --- curve severity --- differentially methylated region --- congenital vertebral malformation --- copy number variant --- CNV --- CHRNG --- distal arthrogryposis type 8 --- Escobar --- multiple pterygium syndrome --- MYH3 --- protein tyrosine kinase 7 (PTK7) --- whole exome sequencing --- n/a
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