当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE期刊下所有文献 > crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).

crv4, a mouse model for human ataxia associated with kyphoscoliosis caused by an mRNA splicing mutation of the metabotropic glutamate receptor 1 (Grm1).

Abstract：

:We describe a novel spontaneous autosomal recessive mutation, cervelet-4 (crv4), which arose in a BALB/c strain. Mice homozygous for the mutation exhibit principally a reduced body size, a congenital neurological phenotype characterized by ataxic gait and intention tremor, with no gross anomalies observed in brain or cerebellum, and skeletal anomalies. Using linkage analysis, we mapped the crv4 locus to the proximal region of chromosome 10, at the location of the Grm1 gene. Genetic complementation crosses between crv4 and Grm1 KO mice confirmed that crv4 is a new allele of Grm1. Molecular analysis of the Grm1 gene in mutant mice revealed the insertion of a 190-bp LTR fragment in intron 4. Our results also indicated that the presence of the LTR fragment caused the disruption of the Grm1 normal splicing process and complete absence of the wild-type protein. crv4 is an interesting model to extend the study of Grm1 function and the pathological effects of Grm1 deficiency in vivo.

journal_name

Int J Mol Med

journal_title

International journal of molecular medicine

authors

Conti V,Aghaie A,Cilli M,Martin N,Caridi G,Musante L,Candiano G,Castagna M,Fairen A,Ravazzolo R,Guenet JL,Puliti A

subject

Has Abstract

pub_date

2006-10-01 00:00:00

pages

593-600

issue

4

eissn

1107-3756

issn

1791-244X

journal_volume

18

pub_type

杂志文章

相关文献

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE文献大全
  • microRNAs and thyroid cancer: biological and clinical significance (Review).

    abstract：:Despite recent advances in the management of thyroid cancer, the survival rate of this tumor may still be improved. Therefore, the identification of biological and molecular features of indolent and aggressive disease would be critical to define clinically useful predictors of high-...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：10.3892/ijmm.2012.1089

    authors： Leonardi GC,Candido S,Carbone M,Colaianni V,Garozzo SF,Cinà D,Libra M

    更新日期：2012-11-01 00:00:00

  • Immunotherapy for SV40 T/t antigen-induced breast cancer by recombinant adeno-associated virus serotype 2 carrying interleukin-15 in mice.

    abstract：:Human interleukin-15 (hIL15) exerts anticancer effects through the activities of lymphokine-activated killer (LAK) cells. However, its short half-life hinders its clinical application. Recombinant adeno-associated virus serotype 2 (rAAV2) is used for hIL15 gene transfer vectors, bec...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2012.921

    authors： Yiang GT,Chou PL,Tsai HF,Chen LA,Chang WJ,Yu YL,Wei CW

    更新日期：2012-05-01 00:00:00

  • Influence of interleukin-13 on beta-catenin levels in eosinophilic chronic rhinosinusitis cell culture.

    abstract：:Chronic rhinosinusitis (CRS) is one of the most common chronic diseases. The etiology and classification of CRS, with and without nasal polyps, remain unclear. Eosinophils and their products are important in the pathophysiology of allergic diseases and in host immunity to certain organisms. Interleukin 13 (IL-13) play...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Sauter A,Stern-Straeter J,Chang RC,Hörmann K,Naim R

    更新日期：2008-04-01 00:00:00

  • KRAB-containing zinc finger gene ZNF268 encodes multiple alternatively spliced isoforms that contain transcription regulatory domains.

    abstract：:The ZNF268 gene was originally isolated from an early human embryo cDNA library. Several different transcripts have been isolated for the ZNF268 gene and developmental expression studies suggest that ZNF268 plays a role in the development of human fetal liver and the differentiation of blood cells. In our effort to st...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Shao H,Zhu C,Zhao Z,Guo M,Qiu H,Liu H,Wang D,Xue L,Gao L,Sun C,Li W

    更新日期：2006-09-01 00:00:00

  • Genetic polymorphisms associated with the development and clinical course of multiple sclerosis (review).

    abstract：:Multiple sclerosis (MS) is an autoimmune disease characterized by areas of inflammation, demyelination and axonal damage. The etiology of MS is multifactorial with an interaction between genetic, environmental and geographical factors. The objective of this study was to review the physiopathology and the genetic polym...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：10.3892/ijmm.2011.731

    authors： Kallaur AP,Kaimen-Maciel DR,Morimoto HK,Watanabe MA,Georgeto SM,Reiche EM

    更新日期：2011-10-01 00:00:00

  • CpG methylation of the ERalpha and ERbeta genes in breast cancer.

    abstract：:Aberrant methylation of promoter CpG islands is known to be responsible for the alteration and silencing of genes in cancer. The data presented here describes that the CpG methylations of ERalpha and ERbeta are found in breast cancer tissues, and methylation exerts a considerable effect on gene silencing, investigated...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Kim SJ,Kim TW,Lee SY,Park SJ,Kim HS,Chung KW,Lee ES,Kang HS

    更新日期：2004-08-01 00:00:00

  • Transfecting the multidrug resistance protein 2 gene improves transcellular organic anion transport.

    abstract：:Eisai hyperbilirubinuria rats (EHBRs) lack functionally active multidrug resistance protein 2 (Mrp2), which causes impaired biliary excretion of numerous organic anions. We previously reported that Mrp3 expression is enhanced while organic anion transporting polypeptide 1 (Oatp1) or Oatp2 expression is reduced in the ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Itani T,Kobayashi Y,Kuroda M,Ma N,Mifuji R,Urawa N,Tanaka Y,Kaito M,Adachi Y

    更新日期：2005-11-01 00:00:00

  • Monoclonal antibody against Toll-like receptor 4 attenuates ventilator-induced lung injury in rats by inhibiting MyD88- and NF-κB-dependent signaling.

    abstract：:The mechanisms through which mechanical ventilation causes non-infectious inflammatory diseases and lung injury are poorly understood. Animals models of this type of injury suggest that it involves signaling mediated by Toll‑like receptor (TLR)4 and 9. In this study, in order to gain further insight into the involveme...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2017.2873

    authors： Huang C,Pan L,Lin F,Dai H,Fu R

    更新日期：2017-03-01 00:00:00

  • Transcript heterogeneity of the human gene for Ca2+-binding protein regucalcin.

    abstract：:Regucalcin is a Ca2+-binding protein which plays a regulatory role in liver cell functions related to Ca2+. In this study we have cloned and characterized cDNA for regucalcin from human liver and human hepatoma cell line Hep G2 by screening and rapid amplification of cDNA ends (RACE). The nucleotide sequences of the c...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Misawa H,Yamaguchi M

    更新日期：2000-03-01 00:00:00

  • Excess fructose and fatty acids trigger a model of non‑alcoholic fatty liver disease progression in vitro: Protective effect of the flavonoid silybin.

    abstract：:Overconsumption of fats and sugars is a major cause of development of non‑alcoholic fatty liver disease (NAFLD). The main objectives of the present study were to explore the pathways sustaining the interfering metabolic effects of excess fructose and fatty acids in hepatocytes, and to clarify the mechanisms through wh...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4234

    authors： Grasselli E,Baldini F,Vecchione G,Oliveira PJ,Sardão VA,Voci A,Portincasa P,Vergani L

    更新日期：2019-08-01 00:00:00

  • Regulation of calmodulin-stimulated cyclic nucleotide phosphodiesterase (PDE1): review.

    abstract：:The response of living cells to change in cell environment depends on the action of second messenger molecules. The two second messenger molecules cAMP and Ca2+ regulate a large number of eukaryotic cellular events. Calmodulin-stimulated cyclic nucleotide phosphodiesterase (PDE1) is one of the key enzymes involved in ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：

    authors： Sharma RK,Das SB,Lakshmikuttyamma A,Selvakumar P,Shrivastav A

    更新日期：2006-07-01 00:00:00

  • Orexin A upregulates the protein expression of OX1R and enhances the proliferation of SGC-7901 gastric cancer cells through the ERK signaling pathway.

    abstract：:Orexins are hypothalamic peptides that regulate food intake, wakefulness, the reward system and energy metabolism. Recent studies have demonstrated the ability of orexins to promote a robust apoptosis and subsequent inhibition of cell growth in various types of cancer cells. The present study was conducted to investig...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2014.2038

    authors： Liu Y,Zhao Y,Ju S,Guo L

    更新日期：2015-02-01 00:00:00

  • Bone morphogenetic protein 2 alleviated intervertebral disc degeneration through mediating the degradation of ECM and apoptosis of nucleus pulposus cells via the PI3K/Akt pathway.

    abstract：:The present study aimed to explore the underlying mechanisms of bone morphogenetic protein 2 (BMP2) in alleviating intervertebral disc degeneration (IDD). A rat puncture IDD model was constructed, and the rats were randomly divided into six groups: Control; IDD (model); IDD+PBS [containing 1010 adeno‑associated virus ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2018.3972

    authors： Tan Y,Yao X,Dai Z,Wang Y,Lv G

    更新日期：2019-01-01 00:00:00

  • lncRNA ZEB1-AS1 promotes migration and metastasis of bladder cancer cells by post-transcriptional activation of ZEB1.

    abstract：:The prognosis for patients with metastatic bladder cancer (BCa) is poor, and has not been improved by current treatment methods. Long noncoding RNAs (lncRNAs) are involved in the pathology of various tumors, including bladder cancer. However, the role of zinc finger E‑box‑binding homeobox 1‑antisense 1 (ZEB1‑AS1) in B...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4187

    authors： Zhao X,Wang D,Ding Y,Zhou J,Liu G,Ji Z

    更新日期：2019-07-01 00:00:00

  • Identification of antiproliferative emodin analogues as inhibitors of epidermal growth factor receptor in cancer.

    abstract：:A series of emodin analogues have been demonstrated to exhibit potent antiproliferative activity in three human epidermal growth factor receptor 2 (HER2)‑overexpressing cell lines. However, in docking simulations, not all of these emodin analogues docked into the HER2 protein binding site. As the epidermal growth fact...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4066

    authors： Chen KC,Juang SH,Lien JC

    更新日期：2019-03-01 00:00:00

  • Molecular characterization of three major outer membrane proteins, TSA56, TSA47 and TSA22, in Orientia tsutsugamushi.

    abstract：:Orientia tsutsugamushi (O. tsutsugamushi), the causative agent of scrub typhus, is an obligate intracellular pathogen. Recent studies have demonstrated the complete genome of O. tsutsugamushi. However, the route and detailed molecular mechanism for O. tsutsugamushi to get accessed into mammalian cells remains unclear....

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2012.967

    authors： Lin CC,Chou CH,Lin TC,Yang MC,Cho CL,Chang CH,Yu HS,Lai CH,Chen LK,Hong YR

    更新日期：2012-07-01 00:00:00

  • Thrombospondin-1 induces apoptosis in primary leukemia and cell lines mediated by CD36 and Caspase-3.

    abstract：:Thrombospondin-1 (TSP-1) is a naturally occurring anti-angiogenic compound that induces apoptosis of endothelial and cancer cells via its receptor CD36. The objectives of our study were to investigate the in vitro effects of TSP-1 on the apoptosis of primary human leukemia cells as well as leukemia cell lines and the ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Li K,Yang M,Yuen PM,Chik KW,Li CK,Shing MM,Lam HK,Fok TF

    更新日期：2003-12-01 00:00:00

  • Lack of endogenous parathyroid hormone delays fracture healing by inhibiting vascular endothelial growth factor‑mediated angiogenesis.

    abstract：:Intermittent low‑dose injections of parathyroid hormone (PTH) have been reported to exert bone anabolic effects and to promote fracture healing. As an important proangiogenic cytokine, vascular endothelial growth factor (VEGF) is secreted by bone marrow mesenchymal stem cells (BMSCs) and osteoblasts, and serves a cruc...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2018.3614

    authors： Ding Q,Sun P,Zhou H,Wan B,Yin J,Huang Y,Li Q,Yin G,Fan J

    更新日期：2018-07-01 00:00:00

  • Long non‑coding RNA urothelial cancer associated 1 regulates radioresistance via the hexokinase 2/glycolytic pathway in cervical cancer.

    abstract：:Cervical cancer is one of the most common types of female malignant tumor. It is well established that radiotherapy (RT) is the first‑line treatment of cervical cancer; however, radioresistance is a substantial obstacle to cervical cancer RT. At present, the mechanism underlying radioresistance remains unclear. Emergi...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2018.3778

    authors： Fan L,Huang C,Li J,Gao T,Lin Z,Yao T

    更新日期：2018-10-01 00:00:00

  • Identification and characterization of rat Ror1 and Ror2 genes in silico.

    abstract：:Frizzled-1 (FZD1), FZD2, FZD3, FZD4, FZD5, FZD6, FZD7, FZD8, FZD9 and FZD10 are seven-transmembrane-type WNT receptors with extracellular Frizzled (Fz) domain. ROR1, ROR2 and MUSK are receptor-type tyrosine kinases with extracellular Fz domain, while MFRP is type II transmembrane protein with extracellular Fz domain. ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Katoh M,Katoh M

    更新日期：2005-03-01 00:00:00

  • Stimulatory effect of Shoyu polysaccharides from soy sauce on the intestinal immune system.

    abstract：:Soy sauce (Shoyu) is a traditional Japanese fermented seasoning and is available worldwide. We investigated the effect of Shoyu polysaccharides (SPS) prepared from soy sauce on the intestinal immune system of mice. SPS enhanced the production of immunoglobulin A (IgA) from Peyer's patch cells in vitro, and its oral ad...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Matsushita H,Kobayashi M,Tsukiyama R,Fujimoto M,Suzuki M,Tsuji K,Yamamoto K

    更新日期：2008-08-01 00:00:00

  • Low-magnitude, high-frequency vibration promotes the adhesion and the osteogenic differentiation of bone marrow-derived mesenchymal stem cells cultured on a hydroxyapatite-coated surface: The direct role of Wnt/β-catenin signaling pathway activation.

    abstract：:The positive effect of low-magnitude, high‑frequency (LMHF) vibration on implant osseointegration has been demonstrated; however, the underlying cellular and molecular mechanisms remain unknown. The aim of this study was to explore the effect of LMHF vibration on the adhesion and the osteogenic differentiation of bone...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2016.2757

    authors： Chen B,Lin T,Yang X,Li Y,Xie D,Zheng W,Cui H,Deng W,Tan X

    更新日期：2016-11-01 00:00:00

  • iTRAQ-based quantitative proteomic analysis of cerebrospinal fluid reveals NELL2 as a potential diagnostic biomarker of tuberculous meningitis.

    abstract：:Tuberculous meningitis (TBM) is a serious complication of tuberculosis that affects the central nervous system. As TBM may result in permanent sequelae and death, rapid, accurate diagnostic tests using novel biomarkers are required for the early diagnosis and treatment of TBM. A quantitative proteomic study was theref...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2015.2131

    authors： Yang Y,Mu J,Chen G,Zhan Y,Zhong J,Wei Y,Cheng K,Qin B,You H,Xie P

    更新日期：2015-05-01 00:00:00

  • ACF7 regulates colonic permeability.

    abstract：:Colonic paracellular permeability is regulated by various factors, including dynamics of the cytoskeleton. Recently, ACF7 has been found to play a critical role in cytoskeletal dynamics as an essential integrator. To elucidate the physiological importance of ACF7 and paracellular permeability, we conditionally knocked...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2013.1284

    authors： Liang Y,Shi C,Yang J,Chen H,Xia Y,Zhang P,Wang F,Han H,Qin H

    更新日期：2013-04-01 00:00:00

  • Insulinoma-associated protein 2-deficient mice develop severe forms of diabetes induced by multiple low doses of streptozotocin.

    abstract：:Insulinoma-associated protein 2 (IA-2) is the major autoantigen that contributes to the pathogenesis of type 1 diabetes (T1D). IA-2-deficient (IA-2-/-) mice showed impaired insulin secretion after intraperitoneal injection of glucose as well as elevated glucose level in a glucose tolerance test. Despite the fact that ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm_00000201

    authors： Nakajima K,Wu G,Takeyama N,Sakudo A,Sugiura K,Yukawa M,Onodera T

    更新日期：2009-07-01 00:00:00

  • Gastrodin inhibits cell proliferation in vascular smooth muscle cells and attenuates neointima formation in vivo.

    abstract：:Vascular smooth muscle cell (VSMC) proliferation plays a critical role in the development of vascular diseases. In the present study, we tested the efficacy and the mechanisms of action of gastrodin, a bioactive component of the Chinese herb Gastrodia elata Bl, in relation to platelet-derived growth factor-BB (PDGF-BB...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2012.1100

    authors： Zhu L,Guan H,Cui C,Tian S,Yang D,Wang X,Zhang S,Wang L,Jiang H

    更新日期：2012-11-01 00:00:00

  • Modulation of biological phenotypes for tumor growth and metastasis by target-specific biological inhibitors in gastric cancer.

    abstract：:For tumor progression, a cascade of linked sequential biological events is essential. We tried to test whether biological therapy can modulate specific biological phenotypes and increase the anti-tumor effect when combined with chemotherapy. Five human gastric cancer cell lines (YCC-1, YCC-2, YCC-3, YCC-7, AGS) were u...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.4.2.203

    authors： Rha SY,Noh SH,Kim TS,Yoo NC,Roh JK,Min JS,Kim BS

    更新日期：1999-08-01 00:00:00

  • NPPB modulates apoptosis, proliferation, migration and extracellular matrix synthesis of conjunctival fibroblasts by inhibiting PI3K/AKT signaling.

    abstract：:When treating glaucoma, excessive scar tissue reactions reduce the postoperative survival rate of the filtering bleb. Accumulating evidence has demonstrated that the proliferation, migration and extracellular matrix (ECM) synthesis of fibroblasts are important molecular mechanisms underlying scar formation. Recent evi...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2017.3323

    authors： Sun L,Dong Y,Zhao J,Yin Y,Tong B,Zheng Y,Xin H

    更新日期：2018-03-01 00:00:00

  • CCN5 overexpression inhibits profibrotic phenotypes via the PI3K/Akt signaling pathway in lung fibroblasts isolated from patients with idiopathic pulmonary fibrosis and in an in vivo model of lung fibrosis.

    abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive interstitial lung disease with unknown etiology and undefined treatment modality. Fibroblasts are regarded as the major cell type that mediates the onset and progression of lung fibrosis by secreting large amounts of extracellular matrix (ECM) proteins, ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2013.1565

    authors： Zhang L,Li Y,Liang C,Yang W

    更新日期：2014-02-01 00:00:00

  • FSH1 regulates the phenotype and pathogenicity of the pathogenic dermatophyte Microsporum canis.

    abstract：:Microsporum canis (M. canis) is a common pathogen that causes tinea capitis and is present worldwide. The incidence of M. canis infection, particularly tinea capitis, has been increasing in China. In our previous studies, family of serine hydrolases 1 (FSH1) was identified as a potential virulence factor in tinea capi...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2019.4355

    authors： Zhang F,Tan C,Xu Y,Yang G

    更新日期：2019-12-01 00:00:00