Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis
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منابع مشابه
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis
Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various cranio...
متن کاملFGFR2 (fibroblast growth factor receptor 2)
FGFR2 gene, consisting of at least 21 exons, encodes multiple isoforms due to alternative splicing. FGFR2b and FGFR2c with extracellular three Ig-like domains, transmembrane domain and cytoplasmic tyrosine kinase domain, are representative FGFR2 isoforms almost identical except the latter half of the third Ig-like domain. Exon 9 and 10, corresponding to the latter half of the third Ig-like doma...
متن کاملcrouzon syndrome: a fibroblast growth factor receptor 2 gene mutation
crouzon syndrome is a rare autosomal dominant premature cranyosynostosis, caused by fibroblast growth factor receptor 2 gene mutation on chromosome 10. the predominant skull and facial malformations with potential compromise airway make the crouzon syndrome a demanding issue for anesthesiologists and surgeons, required dynamic team work. in this report we describe a child, a known case of crouz...
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Crouzon syndrome (CS) is an autosomal dominant disorder characterised by premature fusion of cranial sutures leading to the clinical condition of craniosynostosis, which is usually associated with skull distorsion. Over the past years several mutations in fibroblast growth factor receptor (FGFR) genes 1, 2, 3 have been identified in both syndromic and non-syndromic craniosynostosis; the patholo...
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The receptors 1 and 2 of fibroblast growth factor (FGFR1 and FGFR2, respectively) have been observed in all types of testicular cells. Culture on extracellular matrix (ECM) has been observed to lead to initiation of differentiation in spermatogonial stem cells (SSCs). The present study was carried out to investigate whether FGFR1 and FGFR2 play a role in SSCs differentiation. Following isolatio...
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ژورنال
عنوان ژورنال: International Journal of Biological Sciences
سال: 2017
ISSN: 1449-2288
DOI: 10.7150/ijbs.22373