成纤维细胞生长因子受体3研究进展

成纤维细胞生长因子受体是一类具有自身磷酸化活性的 型跨膜糖基化受体 ,其家族成员都是酪氨酸激酶受体 ,在细胞的增殖、分化、血管生成、骨骼形成、伤口愈合和生长发育等进程中起着十分重要的作用。作者综述了 FGFR3的结构和功能特点以及 FGFR3与疾病的关系     

人成纤维细胞生长因子受体2的研究进展

人成纤维细胞生长因子受体 (FGFRs)家族在细胞的增殖、分化、血管生成、胚胎及骨骼发育和在与生长发育相关的进程中起着十分重要的作用。成纤维细胞生长因子受体 2 (FGFR2 )是该家族 4个成员中的一员 ,本文就其结构特点及与骨骼发育、肿瘤形成和其他疾病的关系加以综述     

成纤维细胞生长因子受体2基因与肿瘤的相关性研究

成纤维细胞生长因子受体2(fibroblast growth factor receptor 2,FGFR2)是人成纤维细胞生长因子受体(FGFRs)家族中的一员,FGFRs在细胞的增殖、分化、血管生成、骨骼发育中起着十分重要的作用.研究表明成纤维细胞生长因子受体2(FGFR2)与肿瘤的发生存在一定相关性.本文就其特点作如下总结.     

成纤维细胞生长因子受体3研究进展

成纤维细胞生长因子受体是一类具有自身磷酸化活性的Ⅳ型跨膜糖基化受体，其家族成员都是酪氨酸激酶受体，在细胞的增殖、分化、血管生成、骨骼形成、伤口愈合和生长发育等进程中起着十分重要的作用。作者综述了FGFR3的结构和功能特点以及FGFR3与疾病的关系。     

成纤维细胞生长因子受体3突变与疾病

成纤维细胞生长因子受体3(FGFR3)在细胞的增殖、分化、血管形成、骨骼发育及与生长和发育相关的过程中起着十分重要的作用。本文概述了FGFR3突变与遗传性侏儒症、膀胱癌等肿瘤的发生和发展的关系。     

成纤维细胞生长因子受体3突变与疾病

成纤维细胞生长因子受体3(FGFR3)在细胞的增殖、分化、血管形成、骨骼发育及与生长和发育相关的过程中起着十分重要的作用。本文概述了FGFR3突变与遗传性侏儒症、膀胱癌等肿瘤的发生和发展的关系。     

Ⅰ型成纤维细胞生长因子受体基因在肿瘤组织中的 …

成纤维细胞生长因子受体（ＦＧＦＲ）包括４种类型。它们都是免疫球蛋白基因超家族的成员,同时又是受体酪氨酸激酶,可参与胚胎发育,损伤修复,血管发生和神经再生等多种重要的生理和病理生理过程。本实验对人胚胎和多种癌组织中的Ⅰ型成纤维细胞生长因子受体Ｚ（ＦＧＦＲ１）基因组ＤＮＡ进行了Ｓｏｕｔｈｅｒｎ印迹分析,发现多种肿瘤的ＦＧＦＲ１基因组ＤＮＡ的杂交结果不同,而与胚胎期ＦＧＦＲ１基因组ＤＮＡ的杂交结果相似。     

成纤维细胞生长因子受体研究进展

纤维细胞生长因子受体研究进展白求恩医科大学基础医学院王丽颖，于永利综述杨贵贞审阅成纤维细胞生长因子受体（ＦＧＦＲｓ）属于免疫球蛋白基因超家族成员，它的细胞外段有三个或两个免疫球蛋白样功能区的结构。ＦＧＦＲ也是一个蛋白质家族，．目前已发现了４种由独立基...     

Clinical spectrum of fibroblast growth factor receptor mutations

During the last few years, it has been demonstrated that some syndromic craniosynostosis and short‐limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype‐genotype correlation is discussed, including the most suggested causative mechanisms for these conditions. Hum Mutat 14:115–125, 1999. © 1999 Wiley‐Liss, Inc.     

人重组FGFR1在昆虫细胞膜上的表达

目的：将人重组成纤维细胞生长因子受体1（FGFR1）表达在昆明细胞膜表面,有作筛选成纤维细胞生长因子（FGFs）损抗肽抗针。方法：将人FGFR1 cDNA克隆入昆虫病毒的转递质粒pFastBac Ⅰ上,然后转座到昆虫病毒Bacmid上。以重组Bacmid转染昆虫细胞Sf9并表达人FGFR1,以Western印迹和ELISA对表达出的蛋白质进行鉴定。结果：FGFR1 cDNA片段2100bp,重组FGFR1表达产物分子量78kD。ELISA结果显示,人重组FGFR1高效地在昆虫细胞Sf9膜表达。结论：这个表达系统能很好地表达出人重组FGFR1,并能准确地将其定位到昆虫细胞膜的表面。     

The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene

Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also had non-communicating hydrocephalus with Chiari malformation. This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.     

I型成纤维细胞生长因子受体基因在肿瘤组织中的异常变化

成纤维细胞生长因子受体（ＦＧＦＲ） 包括４ 种类型。它们都是免疫球蛋白基因超家族的成员, 同时又是受体酪氨酸激酶, 可参与胚胎发育、损伤修复、血管发生和神经再生等多种重要的生理和病理生理过程。本实验对人胚胎和多种癌组织中的Ｉ型成纤维细胞生长因子受体（ＦＧＦＲ１） 基因组ＤＮＡ 进行了Ｓｏｕｔｈｅｒｎ 印迹分析,发现多种肿瘤的ＦＧＦＲ１ 基因组ＤＮＡ的杂交结果不同, 而与胚胎期ＦＧＦＲ１ 基因组ＤＮＡ 的杂交结果相似。以上结果提示, 恶性肿瘤细胞似乎获得了胚胎细胞的某些特点, 具有超常生长增殖的能力; 肿瘤细胞中的ＦＧＦＲ１ 可能也有胚胎化倾向, 从而使ＦＧＦＦＧＦＲ 系统在肿瘤的发生、发展中发挥异常功能。     

Endocardial cushion defect in a patient with Crouzon syndrome carrying a mutation in the fibroblast growth factor receptor (FGFR)-2 gene

Crouzon syndrome is an autosomal dominant disorder caused by mutation in the fibroblast growth factor receptor (FGFR)-2 gene. Recent findings from animal studies imply a critical role for FGFs in the regulation of cardiac development including cardiac cushion proliferation and valvulogenesis. We report on a 36-year-old woman, who required surgical closure for an atrial septal defect, a clinical feature that has not been previously reported in other patients with Crouzon syndrome. The findings suggest that cardiac investigations are warranted in patients with a diagnosis of Crouzon syndrome.     

Changes of type I fibroblast growth factor receptor gene during development

目的研究人成纤维细胞生长因子受体1(FGFR1)基因在发育过程中的可能变化。方法采用Southernblot的方法对胎儿及多种组织基因组DNA进行分析。结果成人FGFR1基因与胚胎期的在基因组水平上是不同的。结论人FGFR1基因在发育过程中可能发生了重排或丢失,这种变化可能导致FGFR1在胚胎期和成年期的表达水平和分子结构的不同,从而改变细胞的功能状态。     

Expression of fibroblast growth factor receptor 1, fibroblast growth factor 2, phosphatidyl inositol 3 phosphate kinase and their clinical and prognostic significance in early and advanced stage of squamous cell carcinoma of the lung

Aim: Non-small cell lung carcinoma is the leading cause of cancer related to death in the world. Squamous cell lung carcinoma (SqCLC) is the second most frequent histological subtype of lung carcinomas. Recently, growth factors, growth factor receptors, and signal transduction system-related gene amplifications and mutations are extensively under investigation to estimate the prognosis and to develop individualized therapies in SqCLC. In this study, besides the signal transduction molecule phosphatidyl inositol-3-phosphate kinase (IP3K) p110α, we explored the expressions of fibroblast growth factor 2 (FGF2) and receptor-1 (FGFR1) in tumor tissue and also their clinical and prognostic significance in patients with early/advanced SqCLC. Materials and methods: From 2005 to 2013, 129 patients (23 early, 106 advanced disease) with a histopathological SqCLC diagnosis were selected from the hospital files of Cukurova University Medical Faculty for this study. Two independent pathologists evaluated FGFR1, FGF2, and PI3K (p110α) expressions in both tumor and stromal tissues from 99 of the patients with sufficient tissue samples, using immunohistochemistry. Considering survival analysis separately for patients with both early and advanced stage diseases, the relationship between the clinical features of the patients and expressions were evaluated by univariate and multivariate analyses. Results: FGFR1 expression was found to be low in 59 (60%) patients and high in 40 (40%) patients. For FGF2; 12 (12%) patients had high, 87 (88%) patients had low expression and for IP3K; 31 (32%) patients had high and 66 (68%) patients had low expressions. In univariate analysis, overall survival (OS) was significantly associated with stage of the disease and the performance status of the patient (P<0.0001 and P<0.001). There was no significant difference in OS of the patients with either low or high expressions of FGFR1, FGF2, and IP3K. When the patients with early or advanced stage disease were separately taken into consideration, the relationship did not differ, either. Any of FGFR1, FGF2 or IP3K expressions was not found predictive for the treatment of early or advanced staged patients. On the other hand, the expressions of both FGFR1 and FGF2 were significantly different with respect to smoking, scar of tuberculosis and scar of radiotherapy (P=0.002; P=0.06 and P=0.05, respectively). Discussion: There has not been identified an effective individualized treatment for SqCLC yet. Therefore, in order to be able to develop such a treatment in the future, it is essential to identify the genetic abnormalities that are responsible for the biological behaviors and carcinogenesis of SqCLC. Although we could not show the prognostic and predictive significance of FGFR1, FGF2 and IP3K expressions in SqCLC, we determined the expression rates of FGFR1, FGF2 and IP3K as a reference for Turkish patients. In conclusion, we want to put some emphasis on the fact that, pulmonary fibrosis which is a late complication of radiotherapy at stage III disease, and the scar of tuberculosis could be associated with FGFR1 and FGF2 expressions.     

Brief communication The primate MHC contains sequences related to the fibroblast growth factor receptor gene family

We have cloned and sequenced a genomic region centromeric of the HLA-B locus from different MHC ancestral haplotypes. These haplotypes are associated with several diseases. The sequences were analyzed for coding potential and their relevance to disease associations were assessed with respect to the level of polymorphism. Analysis of sequences located approximately 25kb centromeric of HLA-B reveals the existence of fibroblast growth factor receptor related sequences. These sequences designated PERB1 (FGFR6 ) reveal 80% homology, at both nucleic acid and amino acid level, to the immunoglobulin domain 1 (Ig-1) of the human fibroblast growth factor receptor 3 ( FGFR3 ) gene. Amino acid comparison of the Ig-1 domain of PERB1 to those of other FGFR molecules indicates that PERB1 is more closely related to FGFR3 and FGFR5 than to FGFR1 , FGFR2 or FGFR4 . Genomic sequence analysis, however, reveals no consensus splice sites and indicates the existence of inframe premature stop codons in the putative coding sequences. The results suggest that these sequences may represent FGFR gene fragments existing within the central MHC. Sequence analysis of the Mhc in 6 chimpanzee and one orangutan indicates that the existence of PERB 1 predates the spe-ciation of the three species. The fact that the MHC contains a mixture of functional and nonfunctional (pseudo) genes suggests that a functional copy of PERB1 (FGFR6 ) may exist within or in close proximity to the MHC.