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更新于：2025-05-07

RELT

更新于：2025-05-07

基本信息

别名

FLJ14993、receptor expressed in lymphoid tissues、RELT

+ [5]

简介

May play a role in apoptosis (PubMed:19969290, PubMed:28688764). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946).

关联

项与 RELT 相关的药物

CN118416196

专利挖掘

靶点

RELT

作用机制-

在研机构

华中科技大学同济医学院附属同济医院

原研机构

华中科技大学同济医学院附属同济医院

在研适应症

消化系统疾病 [+5]

非在研适应症-

最高研发阶段药物发现

首次获批国家/地区-

首次获批日期1800-01-20

CN117362438

专利挖掘

靶点

RELT

作用机制-

在研机构

华中科技大学同济医学院附属同济医院

原研机构

华中科技大学同济医学院附属同济医院

在研适应症

消化系统疾病 [+4]

非在研适应症-

最高研发阶段药物发现

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 RELT 相关的临床结果

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100 项与 RELT 相关的转化医学

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0 项与 RELT 相关的专利（医药）

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项与 RELT 相关的文献（医药）

2025-02-18·Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences

[Frameshift mutation in RELT gene causes amelogenesis imperfecta].

Article

作者: Xu, Xinran ; Dong, Yanmei ; Gao, Xuejun ; Tian, Hua ; Zhang, Zhenwei

OBJECTIVETo analyze RELT gene mutation found in a pedigree with clinical features and inheritable pattern consistent with amelogenesis imperfecta (AI) in China, and to study the relationship between its genotype and phenotype.METHODSClinical and radiological features were recorded for the affected individuals. Peripheral venous blood samples of the patient and family members were collected for further study, and the genomic DNA was extracted to identify the pathogenic gene. Whole exome sequencing (WES) was performed to analyze the possible pathogenic genes, and Sanger sequencing was performed for validation. SIFT and PolyPhen-2 were used to predict and analyze the mutation effect. Comparison of RELT amino acids across different species were performed by using Uniprot website. In addition, the three-dimen-sional structures of the wild type and mutant proteins were predicted by Alphafold 2.RESULTSThe proband exhibited typical hypocalcified AI, with heavy wear, soft enamel, rough and discolored surface, and partial enamel loss, while his parents didn ' t have similar manifestations. WES and Sanger sequencing results indicated that the proband carries a homozygous frameshift mutation in RELT gene, NM_032871.3: c.1169_1170del, and both of his parents were carriers. This mutation was predicted to be pathogenic by SIFT and PolyPhen-2. Up to now, there were 11 mutation sites in RELT gene were reported to be associated with AI, and all of the patients exhibited with hypocalcified AI. Compared with the wild-type RELT protein, the mutant protein p. Pro390fs35 conformation terminated prematurely, affecting the normal function of the protein.CONCLUSIONThrough phenotype analysis, gene sequencing, and functional prediction of a Chinese family with typical amelogenesis imperfecta, this study found that RELT gene frameshift mutation can lead to protein dysfunction in AI patients. Further research will focus on the role and mechanism of RELT in enamel development at the molecular and animal levels, providing molecular biology evidence for the genetic counseling, prenatal diagnosis, and early prevention and treatment of AI.

2024-10-01·International Journal of Biological Macromolecules

Recombinant human protein TCFL5-activated NRSN2-AS1 promotes esophageal cancer progression via the microRNA-874-5p/RELT regulatory axis

Article

作者: Liu, Jian ; Wei, Li ; Yang, Dong ; Wu, Sen ; Hou, Zhaoyao ; Jia, Xiangbo ; Yao, Wenjian ; Feng, Mingyu

The incidence of esophageal cancer continues to increase worldwide. Current therapeutic approaches have limited efficacy, so in order to search for better markers of the disease, it is necessary to further elucidate its molecular pathogenesis. Regulation of gene expression by long non-coding Rnas plays a role in many diseases, however the role in esophageal cancer is unclear. The aim of this study was to elucidate the role and regulatory mechanism of long non-coding RNA NRSN2-AS1 in the progression of esophageal cancer. By real-time quantitative PCR, immunohistochemistry, RNA interference, western blotting, and double luciferase reporter gene analysis, we found that NRSN2-AS1 was up-regulated in esophageal cancer tissues and cell lines, and was closely related to disease stage and prognosis. Functional studies have shown that the silencing of NRSN2-AS1 inhibits the proliferation of esophageal cancer cells, induces apoptosis, and prevents cell migration and invasion. In mouse models, NRSN2-AS1 also promoted tumor growth. The transcription factor TCFL5 upregulates the transcription of NRSN2-AS1, which acts as a sponge for microRNA(miR)-874-5p, thereby upregulating the expression of the oncogene RELT. Activation of the NRSN2-AS1/miR-874-5p/RELT regulatory axis was validated in vivo.

2024-06-01·Journal of Cellular and Molecular Medicine

Whole‐exome sequencing for genetic diagnosis of idiopathic liver injury in children

Article

作者: Özçay, Figen ; Aydemir, Yusuf ; Aytekin, Caner ; Warasnhe, Khaled ; Yazıcı, Yılmaz Yücehan ; Barış, Zeren ; Lülecioğlu, Aysima Atılgan ; Baran, Alperen ; Belkaya, Serkan ; Beyaz, Şengül

AbstractGenome‐wide approaches, such as whole‐exome sequencing (WES), are widely used to decipher the genetic mechanisms underlying inter‐individual variability in disease susceptibility. We aimed to dissect inborn monogenic determinants of idiopathic liver injury in otherwise healthy children. We thus performed WES for 20 patients presented with paediatric‐onset recurrent elevated transaminases (rELT) or acute liver failure (ALF) of unknown aetiology. A stringent variant screening was undertaken on a manually‐curated panel of 380 genes predisposing to inherited human diseases with hepatobiliary involvement in the OMIM database. We identified rare nonsynonymous variants in nine genes in six patients (five rELT and one ALF). We next performed a case‐level evaluation to assess the causal concordance between the gene mutated and clinical symptoms of the affected patient. A genetic diagnosis was confirmed in four rELT patients (40%), among whom two carried novel mutations in ACOX2 or PYGL, and two had previously‐reported morbid variants in ABCB4 or PHKA2. We also detected rare variants with uncertain clinical significance in CDAN1, JAG1, PCK2, SLC27A5 or VPS33B in rELT or ALF patients. In conclusion, implementation of WES improves diagnostic yield and enables precision management in paediatric cases of liver injury with unknown aetiology, in particular recurrent hypertransaminasemia.

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