当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE期刊下所有文献 > NR2F2 loss‑of‑function mutation is responsible for congenital bicuspid aortic valve.

NR2F2 loss‑of‑function mutation is responsible for congenital bicuspid aortic valve.

Abstract：

:Congenital bicuspid aortic valve (BAV) represents the most common type of cardiac birth defect affecting 0.4‑2% of the general population, and accounts for a markedly increased incidence of life‑threatening complications, including valvulopathy and aortopathy. Accumulating evidence has demonstrated the genetic basis of BAV. However, the genetic basis for BAV in the majority of cases remains to be elucidated. In the present study, the coding regions and splicing donors/acceptors of the nuclear receptor subfamily 2 group F member 2 (NR2F2) gene, which encodes a transcription factor essential for proper cardiovascular development, were sequenced in 176 unrelated cases of congenital BAV. The available family members of the proband carrying an identified NR2F2 mutation and 280 unrelated, sex‑ and ethnicity‑matched healthy individuals as controls were additionally genotyped for NR2F2. The functional effect of the mutation was characterized using a dual‑luciferase reporter assay system. As a result, a novel heterozygous NR2F2 mutation, NM_021005.3: c.288C>A; p.(Cys96*), was identified in a family with BAV, which was transmitted in an autosomal dominant mode with complete penetrance. The nonsense mutation was absent from the 560 control chromosomes. Functional analysis identified that the mutant NR2F2 protein had no transcriptional activity. Furthermore, the mutation disrupted the synergistic transcriptional activation between NR2F2 and transcription factor GATA‑4, another transcription factor that is associated with BAV. These findings suggested NR2F2 as a novel susceptibility gene of human BAV, which reveals a novel molecular pathogenesis underpinning BAV.

journal_name

Int J Mol Med

journal_title

International journal of molecular medicine

authors

Wang J,Abhinav P,Xu YJ,Li RG,Zhang M,Qiu XB,Di RM,Qiao Q,Li XM,Huang RT,Xue S,Yang YQ

doi

10.3892/ijmm.2019.4087

subject

Has Abstract

pub_date

2019-04-01 00:00:00

pages

1839-1846

issue

4

eissn

1107-3756

issn

1791-244X

journal_volume

43

pub_type

杂志文章

相关文献

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE文献大全
  • Alternative splicing of apoptosis-related genes in imatinib-treated K562 cells identified by exon array analysis.

    abstract：:Imatinib is the therapeutic standard for newly diagnosed patients with chronic myeloid leukemia (CML). In these patients, imatinib has been shown to induce an apoptotic response specifically in cells expressing the oncogenic fusion protein BCR-ABL. Previous studies in our lab revealed that imatinib-induced apoptosis i...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2011.872

    authors： Liu J,Xiao Y,Xiong HM,Li J,Huang B,Zhang HB,Feng DQ,Chen XM,Wang XZ

    更新日期：2012-04-01 00:00:00

  • Molecular cloning and characterization of the pig secretor type alpha 1,2fucosyltransferase (FUT2).

    abstract：:The existence of at least two distinct alpha 1,2fucosyltransferases has been postulated for many years, and recently confirmed in humans with the cloning of the human and rabbit secretor type alpha 1,2fucosyltransferase. We now describe the cloning and analysis of PFUT2, the pig secretor type alpha 1,2fucosyltransfera...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.3.2.199

    authors： Cohney S,Mouhtouris E,McKenzie IF,Sandrin MS

    更新日期：1999-02-01 00:00:00

  • Tumor necrosis factor-α acts reciprocally with solute carrier family 26, member 3, (downregulated-in-adenoma) and reduces its expression, leading to intestinal inflammation.

    abstract：:Solute carrier family 26, member 3 (Slc26a3), also termed downregulated-in-adenoma (DRA) is a member of the Slc26 family of anion transporters and is mutated in congenital chloride diarrhea. Our previous study demonstrated that DRA deficiency is associated with severely reduced colonic HCO3‑ secretion, a loss of colon...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2017.3347

    authors： Ding X,Li D,Li M,Tian D,Yu H,Yu Q

    更新日期：2018-03-01 00:00:00

  • A technique for capturing broad subtypes and circulating recombinant forms of HIV-1 based on anionic polymer-coated magnetic beads.

    abstract：:Magnetic beads coated with an anionic polymer, poly(methyl vinyl ether-maleic anhydrate) [poly(MVE-MA)], were used in a method to capture human immunodeficiency virus type-1 (HIV-1). The beads were incubated with either HIV-1-infected cell culture medium or plasma from HIV-1 infecte...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2012.1009

    authors： Sakudo A,Ikuta K

    更新日期：2012-08-01 00:00:00

  • Gene therapy for gliomas: p53 and E2F-1 proteins and the target of apoptosis.

    abstract：:Current therapy for glioma is suboptimal. The transfer of apoptosis genes to tumors constitutes one of the most promising strategies for cancer gene therapy. We have previously shown that massive apoptosis occurs when wild-type p53 or E2F-1 expression is induced in glioma. However, the mechanism of action and the effi...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：10.3892/ijmm.3.1.81

    authors： Gomez-Manzano C,Fueyo J,Alameda F,Kyritsis AP,Yung WK

    更新日期：1999-01-01 00:00:00

  • A novel component of the ubiquitin pathway, ubiquitin carboxyl extension protein 1 is overexpressed in prostate cancer.

    abstract：:Prostate cancer is among the most common tumors in industrialized nations. However, little is known about the molecular events underlying its development. In the present study we used suppressive subtraction hybridization (SSH) in combination with laser-assisted microdissection in order to compare gene expression betw...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Ko Y,Hahn T,Lu H,Ma ZL,Chen J,Rothe M,Florin A,Fronhoffs S,Albers P,Sachinidis A,Vetter H,Kaminski A,Behrens P,Wellmann A,Wernert N

    更新日期：2005-02-01 00:00:00

  • 8-(3-oxo-4,5,6-trihydroxy-3h-xanthen-9-yl)-1-naphthoic acid inhibits MAPK phosphorylation in endothelial cells induced by VEGF and bFGF.

    abstract：:Angiogenesis is regulated by various factors. In particular, VEGF and basic FGF are of much importance. We found that 8-(3-oxo-4,5,6-trihydroxy-3h-xanthen-9-yl)-1-naphthoic acid inhibited the binding of VEGF to KDR/Flk-1 (VEGF receptor-2) or Flt-1 (VEGF receptor-1) and that it inhibited the MAPK phosphorylation in HUV...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2.2.211

    authors： Igarashi K,Isohara T,Kato T,Takigawa K,Shigeta K,Yamano T,Uno I I

    更新日期：1998-08-01 00:00:00

  • Circular RNA expression profiles in neonatal rats following hypoxic-ischemic brain damage.

    abstract：:Circular RNAs (circRNAs) have been studied in a number of diseases. However, the roles of circRNAs in hypoxic‑ischemic brain damage (HIBD) remains unknown. In the present study, high throughput sequencing was used to profile altered circRNAs in HIBD rats. A total of 66 circRNAs were identified to be differentially exp...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4111

    authors： Jiang L,Li H,Fan Z,Zhao R,Xia Z

    更新日期：2019-04-01 00:00:00

  • Cytotoxicity of Fas ligand against lymphoma cells with radiation-induced Fas antigen.

    abstract：:Fas antigen, also termed APO-1 or CD95, is a transmembrane protein and a member of the tumor necrosis factor receptor/nerve growth factor receptor superfamily which mediates apoptosis upon oligomerization. The Fas/Fas ligand system is considered to be a key regulator of apoptosis. Recently, we have demonstrated that F...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2.4.435

    authors： Ogawa Y,Nishioka A,Kubonishi I,Inomata T,Yoshida S,Kataoka S

    更新日期：1998-10-01 00:00:00

  • Aquaporin 1 contributes to chondrocyte apoptosis in a rat model of osteoarthritis.

    abstract：:Aquaporins (AQPs) have been found to be associated with a number of diseases. However, the role of AQP‑1 in the pathogenesis of osteoarthritis remains unclear. We previously found that AQP‑1 expression was upregulated in osteoarthritic cartilage and strongly correlated with caspase‑3 expression and activity. The aim o...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2016.2785

    authors： Gao H,Gui J,Wang L,Xu Y,Jiang Y,Xiong M,Cui Y

    更新日期：2016-12-01 00:00:00

  • Protective role of magnesium isoglycyrrhizinate in non-alcoholic fatty liver disease and the associated molecular mechanisms.

    abstract：:Non-alcoholic fatty liver disease (NAFLD) is one of the most common liver diseases worldwide and there is an urgent need to identify effective pharmacological strategies to treat NAFLD. For this purpose, in the present study, we examined the the possible molecular mechanisms responsible for the effects of MgIG and the...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2016.2603

    authors： Xu Q,Wang J,Chen F,Lin K,Zhu M,Chen L,Zhou X,Li C,Zhu H

    更新日期：2016-07-01 00:00:00

  • Complex TNF-α B cell epitope MAP vaccine alleviates murine ulcerative colitis.

    abstract：:The present study aimed to develop a tumor necrosis factor‑α (TNF‑α) B‑cell epitope/IL‑1β helper T lymphocyte epitope complex MAP vaccine for the alleviation of ulcerative colitis (UC) in mice. The B cell epitopes of murine TNF‑α (mTNF‑α) were predicted in silico and coupled with the universal interleukin 1β (IL‑1β) h...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4271

    authors： Sun Y,Pan W,Zhang J,Cui Y,Wang H,Ru G,Chen L

    更新日期：2019-09-01 00:00:00

  • Internally shortened menin protein as a consequence of alternative RNA splicing due to a germline deletion in the multiple endocrine neoplasia type 1 gene.

    abstract：:Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominantly inherited cancer syndrome (OMIM 131100), with tumours in several endocrine glands. In 1997 the responsible tumour suppressor gene was identified and recently it was shown that menin, its encoded protein, represses JunD-activated gene expression. Al...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.5.6.611

    authors： Roijers JF,Apel T,Neumann HP,Arnim UV,Lips CJ,Hoppener JW

    更新日期：2000-06-01 00:00:00

  • A novel retinoic acid analog, 4-amino-2-trifluoromethyl-phenyl retinate, inhibits gastric cancer cell growth.

    abstract：:Retinoic acid (RA) analogs have been used in the treatment of a variety of cancers; however, their application is limited due to serious therapy-related sequelae. In the present study, the effects of a novel RA analog, 4-amino-2-trifluoromethyl-phenyl retinate (ATPR), on the growth of gastric cancer cells were evaluat...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2013.1574

    authors： Hu KW,Pan XH,Chen FH,Qin R,Wu LM,Zhu HG,Wu FR,Ge JF,Han WX,Yin CL,Li HJ

    更新日期：2014-02-01 00:00:00

  • Identification of potential drug targets based on a computational biology algorithm for venous thromboembolism.

    abstract：:Venous thromboembolism (VTE) is a common, fatal and frequently recurrent disease. Changes in the activity of different coagulation factors serve as a pathophysiological basis for the recurrent risk of VTE. Systems biology approaches provide a better understanding of the pathological mechanisms responsible for recurren...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2016.2829

    authors： Xie R,Li L,Chen L,Li W,Chen B,Jiang J,Huang H,Li Y,He Y,Lv J,He W

    更新日期：2017-02-01 00:00:00

  • Alterations in gene expression during sexual differentiation in androgen receptor knockout mice induced by environmental endocrine disruptors.

    abstract：:In the present study, we aimed to explore the effect of environmental endocrine disruptors (EEDs) on sexual differentiation in androgen receptor (AR)-/-, AR+/- and AR+/+ male mice. By using a Cre-loxP conditional knockout strategy, we generated AR knockout mice. By mating flox-AR female mice with AR-Cre male mice, the...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2014.2015

    authors： Liu D,Shen L,Tao Y,Kuang Y,Cai L,Wang D,He M,Tong X,Zhou S,Sun J,Shi C,Wang C,Wu Y

    更新日期：2015-02-01 00:00:00

  • XPD inhibits cell growth and invasion and enhances chemosensitivity in esophageal squamous cell carcinoma by regulating the PI3K/AKT signaling pathway.

    abstract：:Esophageal squamous cell carcinoma (ESCC) is a lethal disease due to its high aggressiveness. The aim of the present study was to investigate the role of xeroderma pigmentosum complementation group D (XPD) in the growth and invasion of ESCC and to elucidate the potential underlying molecular mechanisms. Western blot a...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2020.4593

    authors： Jian J,Li S,Liu LZ,Zhen L,Yao L,Gan LH,Huang YQ,Fang N

    更新日期：2020-07-01 00:00:00

  • Monoacetylcurcumin strongly regulates inflammatory responses through inhibition of NF-kappaB activation.

    abstract：:Curcumin, a component of turmeric (Curcuma longa), is known to exert a variety of biological functions including anti-inflammatory activity. We examined the inhibitory effects of chemically synthesized derivatives of curcumin against inflammatory responses and compared them with those of curcumin, in order to find der...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm_00000402

    authors： Nishida M,Nishiumi S,Mizushina Y,Fujishima Y,Yamamoto K,Masuda A,Mizuno S,Fujita T,Morita Y,Kutsumi H,Yoshida H,Azuma T,Yoshida M

    更新日期：2010-05-01 00:00:00

  • MicroRNA-939-5p directly targets IGF-1R to inhibit the aggressive phenotypes of osteosarcoma through deactivating the PI3K/Akt pathway.

    abstract：:The dysregulation of microRNA‑939‑5p (miR‑939) is involved in the development of multiple types of human cancer. However, the expression and roles of miR‑939 in osteosarcoma (OS) have yet to be clarified. The expression level of miR‑939 in OS was measured using reverse transcription quantitative polymerase chain react...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4333

    authors： Zhao X,Li J,Yu D

    更新日期：2019-11-01 00:00:00

  • Hydrogen-rich saline alleviates inflammation and apoptosis in myocardial I/R injury via PINK-mediated autophagy.

    abstract：:Ischemia/reperfusion (I/R)‑induced inflammatory reaction is one of the most important elements in myocardial I/R injury. In addition, autophagy serves an important role in normal cardiac homeostasis, and obstructions to the autophagy process lead to severe consequences for the heart. Hydrogen exerts an effective thera...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4264

    authors： Yao L,Chen H,Wu Q,Xie K

    更新日期：2019-09-01 00:00:00

  • The metabolic syndrome of omega3-depleted rats. IV. Intestinal phospholipid omega3 fatty acids.

    abstract：:A dietary deprivation in long-chain polyunsaturated omega3 fatty acids initiated in 7-week old normal rats provokes within 3 to 7 months the appearance of several features of the metabolic syndrome. Likewise, within 2 to 4-5 weeks exposure to a flaxseed oil-enriched diet, these anomalies are rapidly corrected. The pre...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm_00000304

    authors： Hacquebard M,Portois L,Malaisse WJ,Carpentier YA

    更新日期：2009-12-01 00:00:00

  • MicroRNA-153 suppresses the osteogenic differentiation of human mesenchymal stem cells by targeting bone morphogenetic protein receptor type II.

    abstract：:Elucidation of the molecular mechanisms governing the osteogenic differentiation of human mesenchymal stem cells (hMSCs) is of great importance for improving the treatment of bone-related diseases. MicroRNAs (miRNAs or miRs), a class of small non-coding RNAs, are critical in a number of biological processes, including...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2015.2275

    authors： Cao Y,LV Q,LV C

    更新日期：2015-09-01 00:00:00

  • Transcriptional targeting of virus-mediated gene transfer by the human hexokinase II promoter.

    abstract：:The efficacy of the most commonly used form of suicide gene therapy, the HSV-TK/GCV method, utilizing herpes simplex virus thymidine kinase (HSV-TK) and antiviral drug ganciclovir (GCV) has been demonstrated in clinical trials. However, safer delivery of the therapeutic gene and more controlled regulation of the trans...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Määttä AM,Korja S,Venhoranta H,Hakkarainen T,Pirinen E,Heikkinen S,Pellinen R,Mäkinen K,Wahlfors J

    更新日期：2006-11-01 00:00:00

  • Oxidant stress regulation of IL-8 and ICAM-1 gene expression: differential activation and binding of the transcription factors AP-1 and NF-kappaB (Review).

    abstract：:Reactive oxygen species (ROS), generated either extracellularly or intracellularly through ligand-receptor interactions, can function as signal transduction molecules to activate the chemotactic cytokine interleukin-8 (IL-8) and the cell surface adhesion protein, intercellular adhesion molecule-1 (ICAM-1; CD54). Toget...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：10.3892/ijmm.4.3.223

    authors： Roebuck KA

    更新日期：1999-09-01 00:00:00

  • miR‑335 promotes stress granule formation to inhibit apoptosis by targeting ROCK2 in acute ischemic stroke.

    abstract：:Under harmful environmental conditions, stress granules (SGs), macromolecular aggregates that are associated with cell survival and death, are produced in the eukaryotic cytoplasm. However, whether and how microRNAs (miRNAs/miRs) modulate SG formation induced by acute ischemic stroke has not been investigated. In the ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4073

    authors： Si W,Ye S,Ren Z,Liu X,Wu Z,Li Y,Zhou J,Zhang S,Li Y,Deng R,Chen D

    更新日期：2019-03-01 00:00:00

  • Manumycin inhibits cell proliferation and the Ras signal transduction pathway in human hepatocellular carcinoma cells.

    abstract：:Manumycin was reported to have inhibitory effect on farnesyltransferase by competing with the farnesyl pyrophosphate substrate. It exhibited different antiproliferative activity in human hepatocellular carcinoma HepG2 cells, primary cultured human cardiac muscle cells and human liver cells (CLC). HepG2 cells overexpre...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Zhou JM,Zhu XF,Pan QC,Liao DF,Li ZM,Liu ZC

    更新日期：2003-06-01 00:00:00

  • The mechanism of atopic march may be the 'social' event of cells and molecules (Review).

    abstract：:The skin, the conjunctivae, the airways and the digestive tract compose a huge vulnerable biological surface, which is exposed to the external environment. An allergen can often trigger an allergic reaction at a number of sites or result in an atopic march. However, the mechanism of atopic march remains unclear. Less ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：10.3892/ijmm_00000525

    authors： Luo J,Li Y,Gong R

    更新日期：2010-12-01 00:00:00

  • Induction of dopaminergic neuronal-like cells from CD44+ human amniotic fluids that are ameliorative to behavioral recovery in a Parkinson's disease rat model.

    abstract：:Parkinson's disease (PD) is a common age-associated neurodegenerative disorder. To date, stem cell transplantation therapy has been developed to replace lost or damaged neural cells in PD patients, in whom dopaminergic neuron cells are lost. Here, we show that CD44+ human amniotic fluid cells (HuAFCs) can be induced t...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2011.732

    authors： Liu T,Guo L,Liu Z,Huang Y,Cheng W

    更新日期：2011-11-01 00:00:00

  • Experimental postoperative adjuvant chemotherapy by UFT using primary tumor amputation model.

    abstract：:We evaluated the postoperative adjuvant chemotherapy by UFT using the primary tumor amputation-pulmonary metastasis model. When Lewis lung carcinoma (LLC) primary tumors on the hind foot pad grew palpable, they were amputated on two different days. In experiment (A) (earlier amputation model), micrometastases were det...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.5.4.357

    authors： Uchida J,Sato K,Okabe H,Saito H,Nakano K,Fujioka A,Takechi T,Takeda S,Unemi N,Fukushima M

    更新日期：2000-04-01 00:00:00

  • Characterization of the human peroxisome proliferator activated receptor delta gene and its expression.

    abstract：:Peroxisome proliferator activated receptors (PPARs) are nuclear receptors regulating the expression of genes involved in lipid and glucose metabolism. Three different PPARs; alpha (PPARA), gamma (PPARG) and delta (PPARD) have been characterized and they are distinguished from each other by tissue distribution and cell...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.6.1.73

    authors： Skogsberg J,Kannisto K,Roshani L,Gagne E,Hamsten A,Larsson C,Ehrenborg E

    更新日期：2000-07-01 00:00:00