当前位置： SCI文献检索 > EXPERIMENTAL AND MOLECULAR PATHOLOGY期刊下所有文献 > Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.

Dsp rul: a spontaneous mouse mutation in desmoplakin as a model of Carvajal-Huerta syndrome.

Abstract：

:Studies of spontaneous mutations in mice have provided valuable disease models and important insights into the mechanisms of human disease. Ruffled (rul) is a new autosomal recessive mutation causing abnormal hair coat in mice. The rul allele arose spontaneously in the RB156Bnr/EiJ inbred mouse strain. In addition to an abnormal coat texture, we found diffuse epidermal blistering, abnormal electrocardiograms (ECGs), and ventricular fibrosis in mutant animals. Using high-throughput sequencing (HTS) we found a frameshift mutation at 38,288,978bp of chromosome 13 in the desmoplakin gene (Dsp). The predicted mutant protein is truncated at the c-terminus and missing the majority of the plakin repeat domain. The phenotypes found in Dsp(rul) mice closely model a rare human disorder, Carvajal-Huerta syndrome. Carvajal-Huerta syndrome (CHS) is a rare cardiocutaneous disorder that presents in humans with wooly hair, palmoplantar keratoderma and ventricular cardiomyopathy. CHS results from an autosomal recessive mutation on the 3' end of desmoplakin (DSP) truncating the full length protein. The Dsp(rul) mouse provides a new model to investigate the pathogenesis of CHS, as well as the underlying basic biology of the adhesion molecules coded by the desmosomal genes.

journal_name

Exp Mol Pathol

journal_title

Experimental and molecular pathology

authors

Herbert Pratt C,Potter CS,Fairfield H,Reinholdt LG,Bergstrom DE,Harris BS,Greenstein I,Dadras SS,Liang BT,Schofield PN,Sundberg JP

doi

10.1016/j.yexmp.2015.01.015

subject

Has Abstract

pub_date

2015-04-01 00:00:00

pages

164-72

issue

2

eissn

0014-4800

issn

1096-0945

pii

S0014-4800(15)00018-0

journal_volume

98

pub_type

杂志文章

相关文献

EXPERIMENTAL AND MOLECULAR PATHOLOGY文献大全
  • Chemotactic mediator requirements in lung injury following skin burns in rats.

    abstract：:Partial-thickness skin burns have been shown to induce neutrophil-dependent microvascular injury both locally (skin) and systemically (lung). In the present study, interventional measures to block inflammatory chemoattractants were employed to define the pathophysiologic role of these mediators in the development of s...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1006/exmp.1999.2263

    authors： Piccolo MT,Wang Y,Sannomiya P,Piccolo NS,Piccolo MS,Hugli TE,Ward PA,Till GO

    更新日期：1999-08-01 00:00:00

  • Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders.

    abstract：:We cloned and partially characterized a human endonuclease (Xib) which shows sequence homologies to pancreatic DNase I but an enzymatic activity closer to DNase II. We report on the structural differences found between Xib and other recently cloned human DNases. Fluores cence microscopy analysis of transiently transfe...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1006/exmp.1999.2254

    authors： Malferrari G,Mazza U,Tresoldi C,Rovida E,Nissim M,Mirabella M,Servidei S,Biunno I

    更新日期：1999-06-01 00:00:00

  • Melanoma growth stimulatory activity (MGSA/GRO-alpha) chemokine genes incorporated into an African green monkey simian cytomegalovirus-derived stealth virus.

    abstract：:DNA isolated from the culture of an African green monkey simian cytomegalovirus (SCMV)-derived stealth virus has been cloned. A region of the virus that contains genes coding proteins homologous to the UL141, UL144, and UL145 proteins of human cytomegalovirus has recombined with cellular sequences encoding several dis...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1006/exmp.1999.2240

    authors： Martin WJ

    更新日期：1999-04-01 00:00:00

  • Quantitative assessment of azoxymethane-induced aberrant crypt foci in inbred mice.

    abstract：:Heritable differences in tumor susceptibility are observed in mice after repetitive exposures to the organotropic colon carcinogen azoxymethane (AOM). The following study was undertaken to determine whether early morphological alterations within the colonic epithelium correlate with subsequent cancer risk. A/J and SWR...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/s0014-4800(99)80003-3

    authors： Delker DA,Wang QS,Papanikolaou A,Whiteley HE,Rosenberg DW

    更新日期：1999-02-01 00:00:00

  • Cytoskeleton-dependent surface blebbing induced by the polar solvent N-methylformamide.

    abstract：:In vivo and in vitro studies performed on the polar solvent N-methylformamide (NMF), as well as on its association with chemotherapeutic agents or X rays, have clearly demonstrated that this compound is capable of inducing changes in biological characteristics of tumor cells, e.g., cell differentiation. However, the m...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/0014-4800(92)90001-r

    authors： Malorni W,Meschini S,Arancia G

    更新日期：1992-10-01 00:00:00

  • Performance of HPV E6/E7 mRNA RT-qPCR for screening and diagnosis of cervical cancer with ThinPrep Pap test samples.

    abstract：:Recent research has shown that oncogenic human papillomavirus (HPV) DNA, which is currently used in the screening and diagnosis of cervical cancer, can be detected not only in high-grade cervical lesions, but also in low-grade cervical lesions and normal tissues. For this reason, HPV tests targeting the E6 and E7 mRNA...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2014.08.004

    authors： Munkhdelger J,Kim G,Wang HY,Lee D,Kim S,Choi Y,Choi E,Park S,Jin H,Park KH,Lee H

    更新日期：2014-10-01 00:00:00

  • Effects of 5-azacytidine in Syrian golden hamsters: toxicity, tumorigenicity, and differential modulation of bronchial carcinogenesis.

    abstract：:5-Azacytidine (AZC) was studied in a lung cancer model in outbred and syngeneic (F1D) hamsters wherein benzol[a]pyrene (BP) from sustained release implants (SRI) induces preneoplastic mucosal changes which progress to bronchogenic cancer. In pilot studies to evaluate AZC toxicity, a dose schedule of 5 mg/kg biweekly w...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/0014-4800(90)90022-6

    authors： Hammond WG,Yellin A,Gabriel A,Paladugu RR,Azumi N,Hill LR,Benfield JR

    更新日期：1990-08-01 00:00:00

  • Increased density of macrophage migration inhibitory factor (MIF) in tuberculosis granuloma.

    abstract：:Granulomas, the pathologic hallmarks of tuberculosis, are composed of tightly numerous immune cells that respond to a variety of persistent stimuli during pathogen-host interaction. The granuloma is essential for host containment of mycobacterial infection, however, the mechanism of host and pathogen determinants to r...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2012.05.004

    authors： Wang D,Zhou W,Lu S,Wang Q,Feng Y,Zhu G,Li L,Song Y,Gao Q

    更新日期：2012-10-01 00:00:00

  • Genome-wide analysis of loss of heterozygosity and copy number amplification in uterine leiomyomas using the 100K single nucleotide polymorphism array.

    abstract：PURPOSE:Uterine leiomyomas (fibroids) are benign smooth muscle tumors commonly found among reproductive-aged women. Though benign, these tumors are the leading indication for hysterectomies in the United States and cause significant morbidity. Despite the importance of this tumor in women's health, relatively little is...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2011.03.007

    authors： Meadows KL,Andrews DM,Xu Z,Carswell GK,Laughlin SK,Baird DD,Taylor JA

    更新日期：2011-08-01 00:00:00

  • Periostin in intrahepatic cholangiocarcinoma: pathobiological insights and clinical implications.

    abstract：:Periostin is a modular glycoprotein frequently observed to be a major constituent of the extracellular milieu of mass-forming intrahepatic cholangiocarcinoma and other desmoplastic malignant tumors. In intrahepatic cholangiocarcinoma, as well as in desmoplastic pancreatic ductal adenocarcinoma, periostin is overexpres...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章,评审

    doi：10.1016/j.yexmp.2014.10.007

    authors： Sirica AE,Almenara JA,Li C

    更新日期：2014-12-01 00:00:00

  • Collagen metabolism in the myocardium of normal and diabetic rats.

    abstract：:Myocardial collagen and total protein synthesis were studied in normal, diabetic, and insulin-treated diabetic rats after a single intraperitoneal injection of L-[2,3-3H]proline as a radioisotopic precursor. The incorporation of tritiated proline into myocardial protein was regarded as a measure of total protein synth...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/0014-4800(88)90060-3

    authors： Reddi AS

    更新日期：1988-04-01 00:00:00

  • Gene expression of indoleamine and tryptophan dioxygenases and three long non-coding RNAs in breast cancer.

    abstract：:The kynurenine pathway (KP) has a principal role in the metabolism of tryptophan. This pathway is also involved in the pathogenesis of cancer. We evaluated expression of two rate limiting enzymes from this pathway (IDO1 and TDO2) as well as three long non-coding RNAs (lncRNAs) that have been predicted to alter express...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2020.104415

    authors： Ghafouri-Fard S,Taherian-Esfahani Z,Dashti S,Kholghi Oskooei V,Taheri M,Samsami M

    更新日期：2020-06-01 00:00:00

  • Cytokine levels in HIV infected and uninfected Indian women: correlation with other STAs.

    abstract：:Host immune status is an important determinant of disease progression. Infections in the genital tract may alter the immunity in the particular site and hence affect the production of local cytokines. We performed this study to determine whether HIV in association with cervical HPV and CT/GC infections influences the ...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2008.10.001

    authors： Guha D,Chatterjee R

    更新日期：2009-02-01 00:00:00

  • Dysregulation of non-coding RNAs in autoimmune thyroid disease.

    abstract：:Autoimmune thyroid disease (AITD) is a complex disorder with both genetic and environmental risk factors. A number of genetic factors such as HLA and CTLA-4 loci have been associated with risk of this disorder. In addition to these factors, recent studies have shown contribution of non-coding RNAs in the pathogenesis ...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章,评审

    doi：10.1016/j.yexmp.2020.104527

    authors： Taheri M,Eghtedarian R,Dinger ME,Ghafouri-Fard S

    更新日期：2020-12-01 00:00:00

  • Molecular evaluation of BRAF gene mutation in thyroid tumors: Significant association with papillary tumors and extra thyroidal extension indicating its role as a biomarker of aggressive disease.

    abstract：BACKGROUND:Somatic mutation of the BRAF gene is one to be the most commonly known genetic change in thyroid tumors especially papillary thyroid cancers. The T1799A activating point mutation is detected in >98% of the thyroid tumors, and result in substitution of amino acid valine at position 600 to glutamic acid. METH...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2018.11.002

    authors： Ahmad F,Nathani R,Venkat J,Bharda A,Vanere V,Bhatia S,Das BR

    更新日期：2018-12-01 00:00:00

  • Development of the early mucosal lesions in experimental inflammatory bowel disease--implications for pathogenesis.

    abstract：:The purpose of this study was to better establish the morphologic basis of the early mucosal lesions of experimental inflammatory bowel disease because understanding the development of these lesions has important pathogenetic implications. Sprague-Dawley rats were given 1.5% hydrolyzed lambda-carrageenan orally for 30...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1006/exmp.1994.1011

    authors： Moyana TN,Xiang J,Qi Y,Kalra J

    更新日期：1994-04-01 00:00:00

  • Antiandrogen abiraterone and docetaxel treatments affect Notch1, Jagged1 and Hes1 expressions in metastatic prostate cancer cells.

    abstract：BACKGROUND:Prostate cancer is the most common cancer in men. A Notch signaling pathway is an important pathway in cell proliferation, differentiation, and fate. However, currently, the effects of abiraterone based-anti-androgene therapy and docetaxel, the most commonly used standard chemotherapy in prostate cancer trea...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2021.104607

    authors： Soylu H,Kırca M,Avcı S,Ozpolat B,Ustunel I

    更新日期：2021-01-19 00:00:00

  • Cytoskeletal changes induced in vitro by 2,5-hexanedione: an immunocytochemical study.

    abstract：:The effects of 2,5-hexanedione, the main metabolite of the solvents hexane and methyl butyl ketone, have been explored in different in vitro epithelial (CG5 and HEp-2) and melanoma (JR8) cells by means of immunochemistry and electron microscopy. The administration of the toxicant to the cell monolayers at noncytolytic...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/0014-4800(89)90056-7

    authors： Malorni W,Iosi F,Formisano G,Arancia G

    更新日期：1989-02-01 00:00:00

  • SFRP1 promotor methylation analysis of FTA card touch-prep samples derived from colonic polyps.

    abstract：:Whatman FTA® cards provide the most reliable method for DNA storage and extraction, however, the literature lacks reports on the epigenetic analysis of FTA card-derived tumor DNA. Therefore, this study aimed at demonstrating that punches from colonic adenoma samples preserved on FTA filter cards are suitable for methy...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2020.104397

    authors： Buxhofer-Ausch V,Ausch C,Reiner A,Müllner-Ammer K,Schmid A,Kriwanek S,Sebesta C,Halwachs-Baumann G,Kriegshäuser G

    更新日期：2020-06-01 00:00:00

  • Absence of galectin-3 does not affect the development of experimental tongue carcinomas in mice.

    abstract：BACKGROUND:Galectin-3 is a lectin that presents pivotal roles in tumor biology and there are no studies evaluating their expression in dysplasias and carcinomas developed from tongue carcinogenesis models. AIMS:To investigate the role of galectin-3 in the development of tongue carcinomas using a mouse model of oral ca...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2010.12.007

    authors： de Faria PR,Chammas R,de Melo TL,Hsu DK,Liu FT,Nonogaki S,Cardoso SV,Loyola AM

    更新日期：2011-04-01 00:00:00

  • Cytogenetic abnormalities precede morphological abnormalities in developing malignant conditions: report of 2 cases.

    abstract：:We previously hypothesized that cytogenetic abnormalities precede morphological abnormalities in developing malignant conditions. In this context we evaluated additional cases to further confirm that hypothesis. We report on 2 additional cases in which clonal cytogenetic abnormalities were observed in otherwise morpho...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2012.10.003

    authors： Symons WA,Flynt FL,Mendiola C,Ortega V,Higgins RA,Velagaleti GV

    更新日期：2013-02-01 00:00:00

  • Evaluation of formalin-free tissue fixation for RNA and microRNA studies.

    abstract：:FineFix, RCL-2 and HOPE, three formalin-free fixatives, were compared to the common used formalin fixed tissue samples of lung cancer and were evaluated for their effects on quality, quantity and integrity of RNA and microRNA. Two commercially available RNA extraction Kits (RNeasy FFPE by Qiagen and RecoverAll™ Nuclei...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2011.05.007

    authors： Arzt L,Kothmaier H,Quehenberger F,Halbwedl I,Wagner K,Maierhofer T,Popper HH

    更新日期：2011-10-01 00:00:00

  • Co-expression of vascular and lymphatic endothelial cell markers on early endothelial cells present in aspirated coronary thrombi from patients with ST-elevation myocardial infarction.

    abstract：INTRODUCTION:Angiogenesis is the growth of both new vascular and lymphatic blood vessels from the existing vasculature. During this process, blood endothelial cells (BECs) and lymphatic endothelial cells (LECs) express specific markers, which help their discrimination and easier identification. Since the coronary throm...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2015.11.028

    authors： Rakocevic J,Kojic S,Orlic D,Stankovic G,Ostojic M,Petrovic O,Zaletel I,Puskas N,Todorovic V,Labudovic-Borovic M

    更新日期：2016-02-01 00:00:00

  • The role of genetic polymorphism within PD-L1 gene in cancer. Review.

    abstract：:The maintenance of homeostasis of the immune system depends on the balance between excitatory and inhibitory signals. Programmed death ligand (PD-L1) is a molecule which downregulates the immune system targeting the programmed death receptor 1 (PD-1). Under physiological conditions, the receptor is constitutively expr...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章,评审

    doi：10.1016/j.yexmp.2020.104494

    authors： Kula A,Dawidowicz M,Kiczmer P,Prawdzic Seńkowska A,Świętochowska E

    更新日期：2020-10-01 00:00:00

  • Ketamine induced cell death can be mediated by voltage dependent calcium channels in PC12 cells.

    abstract：:Ketamine is widely used both as anesthetic and abuse drug. In this study, we investigated the effects of a wide range of ketamine concentrations (100-500-1000 μM) on calcium mobilization and the induction of cell death in undifferentiated PC12 cells, 24 h after treatment. Calcium mobilization was measured as the perce...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2019.104318

    authors： Bustamante J,Acosta L,Karadayian AG,Lores-Arnaiz S

    更新日期：2019-12-01 00:00:00

  • The morphological development of glycol ether-induced testicular atrophy in the rat.

    abstract：:The testicular effects of daily oral dosing with two glycol ethers--either ethylene glycol monomethyl ether (EGM) or monoethyl ether (EGE) were studied in the prepubertal rat by histological examination of the testes. Over the 11-day dosing period studied, EGM was found to produce testicular damage at dose levels of a...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/0014-4800(84)90074-1

    authors： Creasy DM,Foster PM

    更新日期：1984-04-01 00:00:00

  • Characterization of gene expression profiling of mouse tissues obtained during the postmortem interval.

    abstract：:Attempts to establish a tissue bank from autopsy samples have led to uncovering of the secrets of many diseases. Here, we examined the length of time that the RNA from postmortem tissues is available for microarray analysis and reported the gene expression profile for up- and down-regulated genes during the postmortem...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2016.05.007

    authors： Sobue S,Sakata K,Sekijima Y,Qiao S,Murate T,Ichihara M

    更新日期：2016-06-01 00:00:00

  • Adenosine-induced apoptosis in EL-4 thymoma cells is caspase-independent and mediated through a non-classical adenosine receptor.

    abstract：:Cell death caused by the accumulation of extracellular adenosine is believed to contribute to the profound loss of T lymphocytes in patients with severe combined immunodeficiency disease due to adenosine deaminase deficiency. Although adenosine is known to trigger apoptosis in thymocytes and peripheral T cells, the mo...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2005.08.001

    authors： El-Darahali A,Fawcett H,Mader JS,Conrad DM,Hoskin DW

    更新日期：2005-12-01 00:00:00

  • High-level microsatellite instability is not involved in gallbladder carcinogenesis.

    abstract：:The molecular alterations involved in the pathogenesis of gallbladder cancer are not yet well defined. Our aim was to determine the microsatellite status of gallbladder carcinomas and its possible correlation with alterations in K-ras and p53 genes as well as the clinicopathological characteristics of these tumors. A ...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2005.04.001

    authors： Saetta AA,Gigelou F,Papanastasiou PI,Koilakou SV,Kalekou-Greca H,Miliaras D,Michalopoulos NV,Patsouris E

    更新日期：2006-02-01 00:00:00

  • Inhibition of Wnt/β-catenin signaling suppresses bleomycin-induced pulmonary fibrosis by attenuating the expression of TGF-β1 and FGF-2.

    abstract：:Pulmonary fibrosis is a progressive lung disorder of unknown etiology, which is characterized by alterations in alveolar epithelium function, fibroblast activation, and increased extracellular matrix deposition. Recent studies have demonstrated that PF is associated with uncontrolled production of cytokines after lung...

    journal_title：Experimental and molecular pathology

    pub_type： 杂志文章

    doi：10.1016/j.yexmp.2016.04.003

    authors： Chen X,Shi C,Meng X,Zhang K,Li X,Wang C,Xiang Z,Hu K,Han X

    更新日期：2016-08-01 00:00:00