Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient
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چکیده
منابع مشابه
crouzon 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...
متن کاملFamilial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.
The craniosynostoses, the premature closure of the cranial sutures, are a common heterogeneous group of disorders, affecting about 1 in 2000 children at birth. About 20% have a distinct syndrome defined on clinical and family grounds. The delineation of these syndromes has become more precise with molecular analysis. Mutations in the fibroblast growth factor receptor 1, 2, 3 loci have been iden...
متن کاملGlobal Developmental Gene Programing Involves a Nuclear Form of Fibroblast Growth Factor Receptor-1 (FGFR1)
Genetic studies have placed the Fgfr1 gene at the top of major ontogenic pathways that enable gastrulation, tissue development and organogenesis. Using genome-wide sequencing and loss and gain of function experiments the present investigation reveals a mechanism that underlies global and direct gene regulation by the nuclear form of FGFR1, ensuring that pluripotent Embryonic Stem Cells differen...
متن کاملFibroblast 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 کاملThe Relationship Between Fibroblastic Growth Factor Receptor-1 (FGFR1) Gene Amplification in Triple Negative Breast Carcinomas and Clinicopathological Prognostic Factors
Background & Objective: In Triple-Negative Breast Cancers (TNBCs), estrogen receptor (ER), progesterone receptor (PR) and HER2/neu genes are not expressed. Fibroblastic Growth Factor Receptor-1 (FGFR1) gene product is a protein that acts as a receptor of thyrosin kinase. It plays a role in the proliferation, differentiation, and migration of malignant cells. The objective was t...
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2015
ISSN: 1817-1745
DOI: 10.4103/1817-1745.165659