当前位置： SCI文献检索 > INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE期刊下所有文献 > A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome.

A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome.

Abstract：

:Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by microthrombocytopenia, eczema, immunodeficiency, and susceptibility to lymphoid malignancy. Loss-of-function mutations in WAS gene have been identified to cause disorders with platelet defects including WAS and X-linked thrombocytopenia. Mutations anticipated to yield truncated or no protein have been associated with the more severe presentations of WAS. Activating mutations in WAS gene result in an entirely different phenotype, an X-linked severe congenital neutropenia. We describe a Thai family with classic WAS. The proband, a one-year-old boy presented with recurrent mucous bloody diarrhea, recurrent otitis media, chronic eczema, thrombocytopenia, and small platelet sizes. The patient's older brother who also had persistent thrombocytopenia died at the age of seven months from severe pneumonia. Immunoblot analysis demonstrated that the proband's cells lacked WAS protein expression. Mutation analysis of the proband and his mother for the entire coding region of WAS identified a novel type of mutation, a termination codon mutation, X503R. The change is expected to result in an elongated mRNA that would code for a WASP of 581 amino acid residues instead of the normal 502 residues. Because of the absence of WASP expression, we speculate that the termination codon mutation causes reduced mRNA stability. Our findings supported that WAS mutations resulted in no protein are associated with a severe phenotype of WAS.

journal_name

Int J Mol Med

journal_title

International journal of molecular medicine

authors

Chatchatee P,Srichomthong C,Chewatavorn A,Shotelersuk V

subject

Has Abstract

pub_date

2003-12-01 00:00:00

pages

939-41

issue

6

eissn

1107-3756

issn

1791-244X

journal_volume

12

pub_type

杂志文章

相关文献

INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE文献大全
  • Epidermal growth factor downregulates the expression of SH-PTP2.

    abstract：:Protein phosphorylation/dephosphorylation on tyrosine residues are regulated by tyrosine kinases/phosphatases. The tyrosine phosphatase SH-PTP2 (PTP1D, PTP2C) interacts physically through its SH2 domain with phosphorylated epidermal growth factor receptor (EGFR). In KB cells, an oral epidermoid carcinoma, high epiderm...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.1.4.735

    authors： Kamer AR,Hoghooghi SA,Liebow C

    更新日期：1998-04-01 00:00:00

  • Inhibitory action of Celastrol on hypoxia-mediated angiogenesis and metastasis via the HIF-1α pathway.

    abstract：:Celastrol, a natural biologically active compound isolated from Tripterygium wilfordii Hook F root extracts, has been shown to possess antitumor properties and therefore, is an interesting candidate for the development of novel chemotherapeutic cancer agents. In this study, we have demonstrated that Celastrol is a pot...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2011.600

    authors： Huang L,Zhang Z,Zhang S,Ren J,Zhang R,Zeng H,Li Q,Wu G

    更新日期：2011-03-01 00:00:00

  • SN38 increases IL-8 expression through the MAPK pathways in HCT8 cells.

    abstract：:The overexpression of interleukin-8 (IL-8) is closely associated with poor tumor differentiation, metastasis and tumor progression. This study aimed to examine the effects and mechanisms of action of SN38 (a metabolite of the camptothecin derivative, CPT-11) on IL-8 expression in HCT8 cells, using ELISA, CCK-8 and wes...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2016.2810

    authors： Zhang L,Lou WH,Xu XF,Wu W,Rong YF,Jin DY

    更新日期：2017-01-01 00:00:00

  • Prevention of diabetic retinopathy by intraocular soluble flt-1 gene transfer in a spontaneously diabetic rat model.

    abstract：:The number of patients suffering from diabetes mellitus is constantly rising worldwide, and diabetic retinopathy (DR) has become the most frequent cause of postnatal blindness. Vascular endothelial growth factor (VEGF) is known to play a central role during DR development. Thus, inhibiting the effects of VEGF may hamp...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Ideno J,Mizukami H,Kakehashi A,Saito Y,Okada T,Urabe M,Kume A,Kuroki M,Kawakami M,Ishibashi S,Ozawa K

    更新日期：2007-01-01 00:00:00

  • The correlation between CpG methylation and protein expression of P16 in oral squamous cell carcinomas.

    abstract：:We examined the P16 expression by immunohistochemical stain and detected the methylation by methylation specific polymerase chain reaction (MSP) in 48 primary oral squamous cell carcinoma (SCC) tissues. The results showed that 20/48 (41.7%) of cancerous tissues had CpG methylation around the promoter region, but 8/48 ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Huang MJ,Yeh KT,Shih HC,Wang YF,Lin TH,Chang JY,Shih MC,Chang JG

    更新日期：2002-11-01 00:00:00

  • Effects of trichostatin A, a histone deacetylase inhibitor, on the regulation of apoptosis in H-ras-transformed breast epithelial cells.

    abstract：:This study examined the mechanism for the anti-cancer effects of histone deacetylase (HDAC) inhibitor trichostatin A (TsA) in H-ras-transformed human breast epithelial (MCF10A-ras) cells. The effects of TsA on anti-cancer effects of MCF10A-ras cells were determined by measuring the level of cell cycle regulator expres...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Park H,Lee YJ,Kim TH,Lee J,Yoon S,Choi WS,Myung CS,Kim HS

    更新日期：2008-11-01 00:00:00

  • Apolipoprotein(a) phenotypes are reliable biomarkers for familial aggregation of coronary heart disease.

    abstract：:Lipoprotein(a) [Lp(a)] is an atherogenic and prothrombotic molecule formed by the covalent binding of the highly polymorphic apolipoprotein(a) [apo(a)] to apoprotein B-100 of LDL. High Lp(a) concentrations are a recognized genetic risk factor for coronary heart disease (CHD) and have been shown to be related with a fa...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Peros E,Geroldi D,D'Angelo A,Falcone C,Montagna L,Carabela M,Emanuele E

    更新日期：2004-02-01 00:00:00

  • Inflammatory genes are novel prognostic biomarkers for colorectal cancer.

    abstract：:Inflammatory genes serve a crucial role in the pathogenesis of inflammation‑associated tumors. However, as recent studies have mainly focused on the effects of single inflammatory genes on colorectal cancer (CRC), but not on the global interactions between genes, the underlying mechanisms between inflammatory genes and...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2018.3631

    authors： Jiang H,Dong L,Gong F,Gu Y,Zhang H,Fan D,Sun Z

    更新日期：2018-07-01 00:00:00

  • Immune activation and antitumor response of ar-turmerone on P388D1 lymphoblast cell implanted tumors.

    abstract：:Aromatic turmerone (ar-turmerone) has been reported to have a cytotoxic effect on L-1210 and HL-60 cells. In the present study, we investigated the anticancer responses and immune activities in implanted tumor cells. Our study found that ar-turmerone inhibited the increase in the nu...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2012.1196

    authors： Kim D,Suh Y,Lee H,Lee Y

    更新日期：2013-02-01 00:00:00

  • miR‑93‑5p regulates the occurrence and development of esophageal carcinoma epithelial cells by targeting TGFβR2.

    abstract：:Emerging studies have indicated that the dysregulation of microRNAs (miRNAs or miRs) plays a vital role in the development and metastasis of tumors. However, the role of miR‑93‑5p in esophageal carcinoma (EC) has not been extensively reported. The present study thus focused on the role of miR‑93‑5p and its downstream ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2020.4836

    authors： Cai Y,Ruan W,Ding J,Wei N,Wang J,Zhang H,Ma N,Weng G,Su WK,Lin Y,Zhu K

    更新日期：2021-03-01 00:00:00

  • Monoclonal TCR mRNA transcripts are preferentially detected in the TCR variable alpha chain in CD8(+) T-lymphocytes: implications for immunomonitoring.

    abstract：:Clinical trials have started to implement tumor-associated antigens in the form of antigenic peptides in order to augment CD8(+) T-cell responses directed against autologous cancer cells. One of the surrogate markers for successful immunization is the characterization of T-lymphocytes reacting to the immunizing peptid...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.3.2.139

    authors： Höhn H,Reichert T,Neukirch C,Pilch H,Maeurer MJ

    更新日期：1999-02-01 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

  • In vitro alterations in fecal short chain fatty acids and organic anions induced by the destruction of intestinal microflora under hypotonic and aerobic conditions.

    abstract：:The pathogenesis of inflammatory bowel disease (IBD) remains unknown. It has been suggested that luminal factors such as the microflora, short chain fatty acids (SCFAs), food antigens and so on play important roles in the disease progression. Many reports have revealed alterations in the SCFA and organic acid concentr...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Araki Y,Andoh A,Fujiyama Y,Itoh A,Bamba T

    更新日期：2002-06-01 00:00:00

  • The dual role of autophagy in chondrocyte responses in the pathogenesis of articular cartilage degeneration in osteoarthritis.

    abstract：:The present study aimed to analyze the responses to autophagy in osteoarthritis (OA) and aging chondrocytes in order to elucidate the role of autophagy in the pathogenesis of OA. We used multiple assays to confirm that autophagic activity was downregulated in chondrocytes of aged articular cartilage. Surprisingly, we ...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2013.1520

    authors： Chang J,Wang W,Zhang H,Hu Y,Wang M,Yin Z

    更新日期：2013-12-01 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

  • Soluble fractions of tumor necrosis factor-alpha, interleukin-6 and of their receptors in toxic epidermal necrolysis: a comparison with second-degree burns.

    abstract：:Drug-induced toxic epidermal necrolysis (TEN) is a rare bullous disease characterized by severe epidermal necrosis and sloughing. Soluble TNF-alpha(sTNF-alpha), soluble IL-6 (sIL-6) and their reactive soluble receptors (sTNF-Rp55 or-R1, sTNF-Rp75 or-R2, sIL-6R) were quantified in blister fluid and serum of 6 TEN patie...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.1.2.459

    authors： Paquet P,Piérard GE

    更新日期：1998-02-01 00:00:00

  • Diverse inhibition of plasminogen activator inhibitor type 1 by theaflavins of black tea.

    abstract：:Fruits, vegetables, spices and a variety of teas are suggested for the prevention of many diseases. They encompass active, non-nutritional ingredients called nutraceuticals which are defined as food products that provide health benefits. Many nutraceuticals have been tested to identify inhibitors of plasminogen activa...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2011.615

    authors： Jankun J,Skotnicka M,Łysiak-Szydłowska W,Al-Senaidy A,Skrzypczak-Jankun E

    更新日期：2011-04-01 00:00:00

  • Impairment of the retinoic acid-inducible gene-I-IFN-β signaling pathway in chronic hepatitis B virus infection.

    abstract：:Chronic hepatitis B (CHB) virus infection is caused by compromised host immunity, but the precise underlying mechanism remains unclear. Retinoic acid-inducible gene I (RIG-I) triggers antiviral immunity by inducing interferon-β (IFN-β) production following viral infection. To investigate the role of the RIG-I-IFN-β si...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2012.1131

    authors： Zhao G,An B,Zhou H,Wang H,Xu Y,Xiang X,Dong Z,An F,Yu D,Wang W,Bao S,Xie Q

    更新日期：2012-12-01 00:00:00

  • Induction of apoptotic cell death by mycelium extracts of Phellinus linteus in human neuroblastoma cells.

    abstract：:Phellinus linteus is a well-known Oriental medicinal fungus that has various biological activities, including immunomodulatory and anti-tumor activities, the mechanisms of which are poorly understood. In the present study, we investigated the effects of mycelium extracts of P. linteus (MEPL) on the growth of human neu...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Choi YH,Huh MK,Ryu CH,Choi BT,Jeong YK

    更新日期：2004-08-01 00:00:00

  • New trends in non-invasive prenatal diagnosis: applications of dielectrophoresis-based Lab-on-a-chip platforms to the identification and manipulation of rare cells.

    abstract：:The isolation of rare cells, such as fetal nucleated red blood cells and trophoblasts, from maternal blood for non-invasive prenatal diagnosis is a new field of research exhibiting several difficulties since this strategy requires unresolved basic technological protocols for a successful outcome. However, several achi...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章,评审

    doi：

    authors： Borgatti M,Bianchi N,Mancini I,Feriotto G,Gambari R

    更新日期：2008-01-01 00:00:00

  • N-3 fatty acid-rich diet prevents early response of interleukin-6 elevation in trinitrobenzene sulfonic acid-induced enteritis.

    abstract：:Dietary fat is an important factor involved in the pathogenesis of inflammatory bowel disease (IBD). It remains unclear how n-3 and n-6 fatty acids modulate intestinal inflammation. In this study, we investigated the effects of n-3 and n-6 fatty acid-rich diets on trinitrobenzene sulfonic acid (TNBS)-induced enteritis...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Andoh A,Tsujikawa T,Ishizuka I,Araki Y,Sasaki M,Koyama S,Fujiyama Y

    更新日期：2003-11-01 00:00:00

  • Angiopoietin-2 promotes extracellular matrix degradation in human degenerative nucleus pulposus cells.

    abstract：:In contrast to healthy intervertebral discs (IVDs), degenerate IVDs become vascularized. Here, we determined the role of an angiogenesis promoter, angiopoietin (Ang)-2, in the pathology of IVD degeneration (IDD). We evaluated degree of IDD using the Pfirrmann grading system. We used quantitative real-time polymerase c...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2018.3576

    authors： Wang K,Kang L,Liu W,Song Y,Wu X,Zhang Y,Hua W,Zhao K,Li S,Tu J,Luo R,Yang C

    更新日期：2018-06-01 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

  • 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

  • Mutated-leptin gene transfer induces increases in body weight by electroporation and hydrodynamics-based gene delivery in mice.

    abstract：:To investigate whether in vivo gene transfer causes leptin-antagonistic effects on food intake, animal body weight and fat tissue weight, the R128Q mutated-leptin gene, an R to Q substitution at position 128 of mouse leptin, was transferred into mouse liver and leg muscle by electroporation and hydrodynamics-based gen...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Xiang L,Murai A,Muramatsu T

    更新日期：2005-12-01 00:00:00

  • Ginsenoside Rg3 inhibits keloid fibroblast proliferation, angiogenesis and collagen synthesis in vitro via the TGF‑β/Smad and ERK signaling pathways.

    abstract：:A wide range of therapeutic options exists for the treatment of keloids, all of which have their own strengths; however, a high risk of side‑effects and frequent recurrence remains. Therefore, the present study aimed to identify improved therapeutic approaches or drugs for the treatment of keloids. Ginsenoside Rg3 (Rg...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2018.3362

    authors： Tang M,Bian W,Cheng L,Zhang L,Jin R,Wang W,Zhang Y

    更新日期：2018-03-01 00:00:00

  • ERK1/2 pathway mediates epithelial-mesenchymal transition by cross-interacting with TGFβ/Smad and Jagged/Notch signaling pathways in lens epithelial cells.

    abstract：:Epithelial-mesenchymal transition (EMT) of lens epithelial cells (LECs) is the major pathological mechanism in anterior subcapsular cataract (ASC) and posterior capsule opacification (PCO), which are important causes of visual impairment. Extracellular signal-regulated kinase (ERK)1/2 pathway has been reported to play...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2014.1723

    authors： Chen X,Ye S,Xiao W,Wang W,Luo L,Liu Y

    更新日期：2014-06-01 00:00:00

  • Limited specificity of promoter constructs for gene therapy in osteosarcoma.

    abstract：:Osteosarcoma (OS), a malignant bone neoplasia in childhood, has poor prognosis if metastases appear in the lung. A novel therapeutic approach could consist in a gene therapeutic treatment of OS metastases. However, if promiscuous viral vectors are applied for the delivery of potentially toxic transgenes, their misdeli...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Pollmann A,Kabisch H,Block A,Müller J,Hellwinkel OJ

    更新日期：2004-10-01 00:00:00

  • EZH2-mediated suppression of lncRNA-LET promotes cell apoptosis and inhibits the proliferation of post-burn skin fibroblasts.

    abstract：:Although the upregulation of enhancer of zeste homolog 2 (EZH2) expression and downregulation of long non-coding RNA (lncRNA) LET expression are known to be associated with cell apoptosis and proliferation, little is known about the interaction of EZH2 with lncRNA LET. The present study aimed to investigate the intera...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：10.3892/ijmm.2018.3425

    authors： Zheng W,Yu A

    更新日期：2018-04-01 00:00:00

  • Novel dermo-epidermal equivalents on silk fibroin-based formic acid-crosslinked three-dimensional nonwoven devices with prospective applications in human tissue engineering/regeneration/repair.

    abstract：:Biologically well-tolerated materials are at the core of intense research. In this study, we report both the intrinsic features of formic acid (FA)-crosslinked three-dimensional (3D) nonwoven scaffolds consisting of sericin-deprived, Bombyx mori silk fibroin (SF) in beta-sheet form and the long-term co-culture of adul...

    journal_title：International journal of molecular medicine

    pub_type： 杂志文章

    doi：

    authors： Dal Pra I,Chiarini A,Boschi A,Freddi G,Armato U

    更新日期：2006-08-01 00:00:00