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Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

International Journal of Oral Science 2023年第3期15卷 489-501页

作者： jianfan chen Xueqing Xu Song chen Ting Lu Yingchun Zheng Zhongzhi Gan Zongrui Shen Shunfei Ma Duocai Wang Leyi Su Fei He Xuan Shang Huiyong Xu Dong chen Leitao Zhang Fu Xiong Department of Medical Genetics Experimental Education/Administration CenterSchool of Basic Medical SciencesSouthern Medical UniversityGuangzhouChina Experimental Department of Obstetrics and Gynecology Institute The Third Affiliated Hospital of Guangzhou Medical UniversityGuangzhouChina Department of Precision Medicine Shenzhen HospitalSouthern Medical UniversityShenzhenChina Department of Stomatology Nanfang HospitalSouthern Medical UniversityGuangzhouChina Department of Stomatology The First Affiliated Hospital of Zhengzhou UniversityZhengzhouChina Guangdong Provincial Key Laboratory of Single Cell Technology and Application GuangzhouChina Department of Fetal Medicine and Prenatal Diagnosis Zhujiang HospitalSouthern Medical UniversityGuangzhouChina

Hereditary gingival fibromatosis(HGF)is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic *** distinct loci related to non-syndromic HGF have been identified;however,only two diseasecausing genes,SOS1 and REST,inducing HGF have been identified at two loci,GINGF1 and GINGF5,***,based on a family pedigree with 26 members,including nine patients with HGF,we identified double heterozygous pathogenic mutations in the ZNF513(c.C748T,p.R250W)and KIF3C(c.G1229A,p.R410H)genes within the GINGF3 locus related to *** studies demonstrated that the ZNF513 p.R250W and KIF3C p.R410H variants significantly increased the expression of ZNF513 and KIF3C in vitro and in ***513,a transcription factor,binds to KIF3C exon 1 and participates in the positive regulation of KIF3C expression in gingival ***,a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513(p.R250W)or Kif3c(p.R412H)alone do not led to clear phenotypes with gingival fibromatosis,whereas the double mutations led to gingival hyperplasia *** addition,we found that ZNF513 binds to the SOS1 promoter and plays an important positive role in regulating the expression of ***,the KIF3C p.R410H mutation could activate the PI3K and KCNQ1 potassium ***513 combined with KIF3C regulates gingival fibroblast proliferation,migration,and fibrosis response via the PI3K/AKT/mTOR and Ras/Raf/MEK/ERK *** summary,these results demonstrate ZNF513+KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF.

关键词： gingival KIF hereditary

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Genetic Diagnosis in a Big Chinese Family with Polycystic Kidney Disease and Thalassemia Minor

Genetic Diagnosis in a Big Chinese Family with Polycystic Ki...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Xiong Jun Miao Yun chen jianfan Xu Huiling Huang Huajie Xu Xiangmin Xiong Fu Department of Medical Genetics Southern Medical University Department of Organ Transplantation Nanfang Hospital

Objective To identify genetic defects in a large family with polycystic kidney disease and thalasse mia minor. Method Whole genome next-generation sequencing was performed on the proband and clinical e valuation was taken in the whole family. Then Sanger sequencing was used to identify the mutati ons discovered by NGS in family. The pathogenic potential of the variants were evaluated by Poly Phen-2, SIFT algorithm and Mutation taster. In vivo kidney assays of immunohistochemistry, west ern blot, immunofluorescence and TUNEL were performed to investigate the differences of PC1 e xpression, proliferation and apoptosis between the proband and normal control. Result Five members were found having the PKD and six members took thalassemia minor. The proband also had sistus inversus totalis besides PKD and thalassemia minor. A novel PKD1 trunc ation mutation(c.3903 del C, p.A1302 Pfs) was found co-segregated with the renal disease in famil y. And a big α-thalassemia deletion(*** deletion, SEA deletion) connected to the thalasse mia minor was confirmed. In vivo kidney assays showed a higher PC1 level in the dilated renal tu bule and increased proliferation and apoptosis. Besides, four members harbored the COL4 A5 p.G935 V(rs78972735), which was annotated as pathogenic in db SNP and HGMD, while they have no clinical symptom of Alport syndromes. Conclusion A novel pathogenic PKD1 mutation(c.3903 del C) and a thalassemia SEA deletion w as found responsible for the clinical symptoms of the family. And the COL4 a5 variant(c.G2858 T, rs78972735) is not pathogenic alone.

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A novel OCRL mutation causes Lowe syndrome in a Chinese family with two brothers

A novel OCRL mutation causes Lowe syndrome in a Chinese fami...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Zhang Xuelian Li Zhong Xu Huilin Huang Huajie Ma Di chen Danna chen jianfan Xu Xiangmin Xiong Fu Department of Medical Genetics School of Basic Medical Sciences South Medical University Department of Neurology The Sixth Affiliated Hospital Sun Yat-sen University

Objective Lowe syndrome(oculo-cerebro-renal syndrome) is a rare X-linked recessive hereditary disease seen in approximately 1/200 000-1/500 000 births. In this study, we investigated the OC RL gene mutation in a Chinese Han family with Lowe syndrome and study the pathogenesis of th e mutation with OCRL gene. Method B ultrasound was used for clinical diagnosis. Peripheral venous blood was taken from th e family members. Polymerase chain reaction(PCR) was used for amplifying the OCRL gene and then analyzed with Sanger sequencing. The novel mutation of the pathogenesis was analyzed by bioinformatics, real-time PCR, subcellular localization and Western blot. Result Proband and his brother were diagnosed with Lowe syndrome. The Sanger sequencing s howed a novel mutation, c.1383 del A, a deletion mutation, in exon 14 of the OCRL gene. Their parents had no obvious clinical symptoms, only the mother carried the mutation site. The frameshift mutation generated a truncated protein that was expressed in transfected Human embryonic kidn ey(HEK) 293 T cells. Subcellular localization experiments showed that GFP-tagged of wild-type a nd mutant OCRL protein were located in the cytoplasm of HEK-293 T cells. Western blot analyze d that the protein expression of Co-transfection in HEK293 T cells with mutant expression plasmid s was significantly lower than wild type protein. Conclusion Our study suggests that the novel frameshift mutation(c.1383 del A) of OCRL gene le ads to a truncated protein and involves in Lowe syndrome pathogenesis with haploinsufficiency. T hese findings expand the mutation spectrum of OCRL gene, and provide theoretical basis for the treatment and genetic counseling of the Lowe syndrome family.

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Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

Double heterozygous pathogenic mutations in KIF3C and ZNF513...

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2023年中华口腔医学会口腔遗传病与罕见病专业委员会第五次学术年会

作者： chen jianfan chen Song Lu Ting Zheng Yingchun Gan Zhongzhi Shen Zongrui Ma Shunfei Wang Duocai Su Leyi He Fei Shang Xuan chen Dong Xu Xueqing Zhang Leitao Xiong Fu Department of Medical Genetics Experimental Education/Administration Center School of Basic Medical Sciences Southern Medical University Department of Stomatology Nanfang Hospital Southern Medical University Department of Stomatology the First Affiliated Hospital of Zhengzhou University Department of Precision Medicine Shenzhen HospitalSouthern Medical University Guangdong Provincial Key Laboratory of Single Cell Technology and Application Department of Fetal Medicine and Prenatal Diagnosis Zhujiang Hospital Southern Medical University

Hereditary gingival fibromatosis(HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. Five distinct loci related to non-syndromic HGF have been identified;however, only two disease-causing genes, SOS1 and REST, inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. Here,based on a family pedigree with 26 members, including nine patients with HGF,we identified double heterozygous pathogenic mutations in the ZNF513(c.C748T, p.R250W) and KIF3C(c.G1229A, p.R410H) genes within the GINGF3 locus related to HGF. Functional studies demonstrated that the p.R250W and p.R410H variants significantly increased the expression of ZNF513 and KIF3C in vitro and in vivo. ZNF513, a transcription factor, binds to KIF3C exon 1 and participates in the positive regulation of KIF3C expression in gingival fibroblasts. Furthermore, a knock-in mouse model confirmed that heterozygous or homozygous mutations within Zfp513(p.R250W) or Kif3c(p.R412H) alone do not led to clear phenotypes with gingival fibromatosis,whereas the double mutations led to gingival hyperplasia phenotypes. In addition, we found that ZNF513 binds to the SOS1 promoter and plays an important positive role in regulating the expression of SOS1. Moreover, the KIF3C p.R410H mutation could activate the PI3K and KCNQ1 potassium channels. Jointly, ZNF513 combined with KIF3C regulates gingival fibroblast proliferation, migration, and fibrosis response via the PI3K/AKT/mTOR and Ras/Raf/MEK/ERK pathways. In summary, these results demonstrate ZNF513+ KIF3C as an important genetic combination in HGF manifestation and suggest that ZNF513 mutation may be a major risk factor for HGF.

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Lamins and their genes

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Progress in Natural Science:Materials International 2002年第8期 3-9页

作者： WEN jianfan and chen Wanqun(1. Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China 2. Graduate School of Chinese Academy of Sciences, Beijing 100039, China)

The nuclear lamina is an important nuclear structure. The studies on its peptides lamins and genes have made substantial progress in recent years. In this paper, the new achievements in studies of new lamin members and their functions, lamin genes and their origin and differentiation, are reviewed and discussed. Some research areas that deserve to be investigated further are put forward.

关键词： lamin lamin gene origin differentiation.

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几种细胞分裂素对钌联吡啶电化学发光的增强行为研究

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福州大学学报（自然科学版） 2016年第5期44卷 728-731,745页

作者：叶桦珍陈筱瑜黄建凡陈咏陈国南福建卫生职业技术学院药学系福建福州350101 福州大学化学学院福建福州350116

研究几种细胞分裂素对钌联吡啶电化学发光行为的影响.研究结果表明,在酸性条件下细胞分裂素增强了钌联吡啶的电化学发光,测得的钌联吡啶电化学发光增强值与所加入细胞分裂素的浓度呈良好的线性关系.最优条件下,测定玉米素、玉米素核苷... 详细信息

研究几种细胞分裂素对钌联吡啶电化学发光行为的影响.研究结果表明,在酸性条件下细胞分裂素增强了钌联吡啶的电化学发光,测得的钌联吡啶电化学发光增强值与所加入细胞分裂素的浓度呈良好的线性关系.最优条件下,测定玉米素、玉米素核苷、6-呋喃氨基嘌呤、异戊烯基腺嘌呤等几种细胞分裂素的线性范围分别为1.0×10^(-6)~1.0×10^(-4)、5.0×10^(-7)~1.0×10^(-4)、2.0×10^(-6)~1.0×10^(-4)、8.0×10^(-7)~5.0×10^(-5)mol·L^(-1),测定检测限均可达10^(-7)mol·L^(-1)数量级.该法操作简单,可用于细胞分裂素的灵敏度检测.

关键词：细胞分裂素钌联吡啶电化学发光

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IKE协议两种身份保护缺陷的改进

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计算机工程与应用 2004年第26期40卷 33-36页

作者：卫剑钒唐礼勇陈钟北京大学计算机科学技术系北京100871

该文从身份保护的角度出发,对互联网密钥交换(IKE)协议主模式下数字签名认证方式和主模式下预共享密钥认证方式中存在的身份保护缺陷进行了分析,提出了新的修改建议。与其他文献只能保护单方身份的改进方法相比,该方法能够同时保护双方... 详细信息

该文从身份保护的角度出发,对互联网密钥交换(IKE)协议主模式下数字签名认证方式和主模式下预共享密钥认证方式中存在的身份保护缺陷进行了分析,提出了新的修改建议。与其他文献只能保护单方身份的改进方法相比,该方法能够同时保护双方的身份,并不破坏ISAKMP框架及协议的对称性。

关键词： IKE协议身份保护中间人攻击预共享密钥

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补肾生血汤联合免疫抑制治疗慢性再生障碍性贫血患者疗效及改善疾病相关指标研究

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辽宁中医药大学学报 2024年第11期26卷 173-176页

作者：高国荣陈剑芳临汾市人民医院山西临汾041000 山西医科大学第二医院山西太原030000

目的探讨补肾生血汤联合免疫抑制在慢性再生障碍性贫血患者中的应用。方法该研究纳入了76例慢性再生障碍性贫血患者作为研究对象,均为临汾市人民医院2019年3月—2022年3月期间收治的患者。依据随机数字表法将患者随机分为对照组和观察组... 详细信息

目的探讨补肾生血汤联合免疫抑制在慢性再生障碍性贫血患者中的应用。方法该研究纳入了76例慢性再生障碍性贫血患者作为研究对象,均为临汾市人民医院2019年3月—2022年3月期间收治的患者。依据随机数字表法将患者随机分为对照组和观察组,每组各38例。对照组采用常规治疗联合免疫抑制,观察组在对照组基础上加用补肾生血汤,均连续治疗3个月。对比两组治疗后临床疗效,治疗期间不良反应发生情况,治疗前后T淋巴细胞亚群水平、骨髓碱性成纤维细胞生长因子(bFGF)、微血管密度(MVD)、血管内皮生长因子(VEGF)、外周血象指标水平。结果治疗后观察组患者的临床总有效率为97.37%,明显高于对照组的84.21%;相较于治疗前,治疗后两组患者CD3+、CD4+、CD4+/CD8+、骨髓bFGF、MVD、VEGF、白细胞(WBC)、血红蛋白(Hb)、血小板(PLT)水平均升高,CD8+水平则降低,且观察组优于对照组;治疗期间,观察组患者的不良反应总发生率10.53%较对照组的28.95%相比更低(均P<0.05)。结论补肾生血汤联合免疫抑制治疗慢性再生障碍性贫血患者具有较好的临床疗效,能够改善患者机体内的免疫功能以及骨髓造血微环境,提升其造血功能,且安全性较高。

关键词：慢性再生障碍性贫血免疫抑制补肾生血汤临床疗效疾病相关指标

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互联网+虚拟现实技术教育模式在泌尿外科临床教学中的应用

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国际医药卫生导报 2020年第21期26卷 3230-3233页

作者：陈建帆孙路平卓育敏暨南大学附属第一医院泌尿外科 510630

虚拟现实技术(Virtual Reality,VR)具有沉浸性、交互性和构想性的特征,近年来在临床教学方面获得了极大的关注;通过联合虚拟现实技术+互联网的优势和特点,对比传统教学模式,进一步改进传统泌尿外科医学教育中存在的缺陷,提高教学质量并... 详细信息

虚拟现实技术(Virtual Reality,VR)具有沉浸性、交互性和构想性的特征,近年来在临床教学方面获得了极大的关注;通过联合虚拟现实技术+互联网的优势和特点,对比传统教学模式,进一步改进传统泌尿外科医学教育中存在的缺陷,提高教学质量并帮助学生理解学习。本文探究VR技术作为临床技能教学补充的可行性。文中对互联网+虚拟现实技术在泌尿外科临床教学应用进行初步的探讨,利用互联网+虚拟现实技术在泌尿外科教学的过程中具有独特的优势,为推动VR在泌尿外科领域的普及提供理论支持。

关键词：互联网+ 虚拟现实技术泌尿外科临床教学

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客车转向架横向振动的理论计算和试验分析

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铁道学报 1981年第1期 14-26页

作者：王福天朱昶基陈健凡上海铁道学院

本文通过理论计算确定209型及202型客车转向架轮对的纵向和横向定位刚度,使其蛇行运动的临界速度远超出常用速度范围,以保证稳定运行。探讨悬挂参数对横向振动性能的影响。论述轮对蛇行运动的特性及其与车体横向振动之间的关系。并证实... 详细信息

本文通过理论计算确定209型及202型客车转向架轮对的纵向和横向定位刚度,使其蛇行运动的临界速度远超出常用速度范围,以保证稳定运行。探讨悬挂参数对横向振动性能的影响。论述轮对蛇行运动的特性及其与车体横向振动之间的关系。并证实了车体滾摆振动是由轮对蛇行运动所激起的。

关键词：横向振动车体临界速度轮对蛇行蛇行运动转向架转向装置试验分析理论计算

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