Rare diseases (Austin, Tex.)最新文献_第2页

Suitable Molecular Genetic Methods for the Monitoring of Cell Chimerism 适用于细胞嵌合体监测的分子遗传学方法

Rare diseases (Austin, Tex.) Pub Date : 2019-08-12 DOI: 10.5772/INTECHOPEN.88436

H. Cechova, Lucie Pavlátová, Monika Leontovycova, M. Vraná

{"title":"Suitable Molecular Genetic Methods for the Monitoring of Cell Chimerism","authors":"H. Cechova, Lucie Pavlátová, Monika Leontovycova, M. Vraná","doi":"10.5772/INTECHOPEN.88436","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.88436","url":null,"abstract":"The molecular analysis of individual hematopoietic chimerism at a defined time after allogeneic hematopoietic stem cell transplantation represents an important non-specific marker of posttransplant course. The monitoring of its dynamic allows the identification of patients at a high risk of relapse. A variety of methods are used for the monitoring of cell chimerism. It is necessary to use sensitive molecular genetic methods for early detection of the autologous hematopoiesis. Quantitative multiplex real-time polymerase chain reaction (PCR) analysis can serve as a very sensitive (0.01 – 0.1%), relatively quick, and inexpensive method to detect < 1% of minor genotype. With an increasing ratio of minor genotype ( > 1%), it is more suitable to use short tandem repeats (STRs) for its analysis. Based on the differences in recipient/donor pair genotypes, at least two suitable informative polymorphisms located at different chromosomes can be selected. The combination of methods is appropriate, and the choice of the used method depends on the patient ’ s actual chimerism status. The cohort of 207 patients monitored at the Institute of Hematology and Blood Transfusion was divided into three subgroups according to their chimerism status (complete chimerism (CC), microchimerism, mixed chimerism (MC)) 3 years after allogeneic hematopoietic stem cell transplantation (allo-HSCT). A significant difference in the 3-year survival and 3-year relapse rates in all three subgroups was found.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/INTECHOPEN.88436","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46184783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Research Progress of Monogenic Inherited Hypertension 单基因遗传性高血压的研究进展

Rare diseases (Austin, Tex.) Pub Date : 2019-07-04 DOI: 10.5772/INTECHOPEN.87934

Wenxiu Liu, Xinhua Yin

{"title":"The Research Progress of Monogenic Inherited Hypertension","authors":"Wenxiu Liu, Xinhua Yin","doi":"10.5772/INTECHOPEN.87934","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.87934","url":null,"abstract":"Monogenic inherited hypertension, which is caused by a single gene mutation, generally conforms to the Mendel’s law, but its phenotype is affected by environmental factors as well. This type of hypertension is characterized by early onset (more common in adolescents), family history, severe hypertension, or refractory hypertension. It is often accompanied by abnormal hormone level and biochemical indicators, including low activity of plasma renin, abnormal potassium, and acid-base metabolization disorder. For adolescents with a family history of moderate to severe hypertension, hormone level (including plasma renin-angiotensin-aldoste-rone, cortisol, and sex hormone) and blood electrolytes should be measured and the detailed diagnosis should be determined according to medical history, physical signs, and test results. Currently, 17 kinds of monogenic hereditary hypertension have been clearly determined. Thanks to the development of gene detection technology, the diagnostic level of monogenic inherited hypertension has greatly improved and the pathogenesis has been gradually clarified. Our review mainly discussed the research progress in this field.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5772/INTECHOPEN.87934","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49184785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome. 转录因子 4 缺乏症的神经发育模型将共同离子通道作为皮特-霍普金斯综合症的潜在治疗靶点。

Rare diseases (Austin, Tex.) Pub Date : 2016-08-05 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2016.1220468

Matthew D Rannals, Stephanie Cerceo Page, Morganne N Campbell, Ryan A Gallo, Brent Mayfield, Brady J Maher

{"title":"Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome.","authors":"Matthew D Rannals, Stephanie Cerceo Page, Morganne N Campbell, Ryan A Gallo, Brent Mayfield, Brady J Maher","doi":"10.1080/21675511.2016.1220468","DOIUrl":"10.1080/21675511.2016.1220468","url":null,"abstract":"The clinically pleiotropic gene, Transcription Factor 4 (TCF4), is a broadly expressed basic helix-loop-helix (bHLH) transcription factor linked to multiple neurodevelopmental disorders, including schizophrenia, 18q deletion syndrome, and Pitt Hopkins syndrome (PTHS). In vivo suppression of Tcf4 by shRNA or mutation by CRISPR/Cas9 in the developing rat prefrontal cortex resulted in attenuated action potential output. To explain this intrinsic excitability deficit, we demonstrated that haploinsufficiency of TCF4 lead to the ectopic expression of two ion channels, Scn10a and Kcnq1. These targets of TCF4 regulation were identified through molecular profiling experiments that used translating ribosome affinity purification to enrich mRNA from genetically manipulated neurons. Using a mouse model of PTHS (Tcf4+/tr), we observed a similar intrinsic excitability deficit, however the underlying mechanism appeared slightly different than our rat model - as Scn10a expression was similarly increased but Kcnq1 expression was decreased. Here, we show that the truncated TCF4 protein expressed in our PTHS mouse model binds to wild-type TCF4 protein, and we suggest the difference in Kcnq1 expression levels between these two rodent models appears to be explained by a dominant-negative function of the truncated TCF4 protein. Despite the differences in the underlying molecular mechanisms, we observed common underlying intrinsic excitability deficits that are consistent with ectopic expression of Scn10a. The converging molecular function of TCF4 across two independent rodent models indicates SCN10a is a potential therapeutic target for Pitt-Hopkins syndrome.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"4 1","pages":"e1220468"},"PeriodicalIF":0.0,"publicationDate":"2016-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5154382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"60422678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI. 色素上皮衍生因子(PEDF)可使成骨不完全性VI型诱导多能干细胞的基质缺陷正常化。

Rare diseases (Austin, Tex.) Pub Date : 2016-07-19 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2016.1212150

Glenn S Belinsky, Leanne Ward, Chuhan Chung

{"title":"Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI.","authors":"Glenn S Belinsky, Leanne Ward, Chuhan Chung","doi":"10.1080/21675511.2016.1212150","DOIUrl":"https://doi.org/10.1080/21675511.2016.1212150","url":null,"abstract":"Osteogenesis imperfecta (OI) Type VI is characterized by a defect in bone mineralization, which results in multiple fractures early in life. Null mutations in the PEDF gene, Serpinf1, are the cause of OI VI. Whether PEDF restoration in a murine model of OI Type VI could improve bone mass and function was previously unknown. In Belinsky et al, we provided evidence that PEDF delivery enhanced bone mass and improved parameters of bone function in vivo. Further, we demonstrated that PEDF temporally inhibits Wnt signaling to enhance osteoblast differentiation. Here, we demonstrate that generation of induced pluripotent stem cells (iPSCs) from a PEDF null patient provides additional evidence for PEDF's role in regulating extracellular matrix proteins secreted from osteoblasts. PEDF null iPSCs have marked abnormalities in secreted matrix proteins, capturing a key feature of human OI Type VI, which were normalized by exogenous PEDF. Lastly, we place our recent findings within the broader context of PEDF biology and the developmental signaling pathways that are implicated in its actions. ","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"4 1","pages":"e1212150"},"PeriodicalIF":0.0,"publicationDate":"2016-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2016.1212150","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34349762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 7

Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases. 涉及铁和髓磷脂的病理关系可能构成一种连接各种罕见和常见脑部疾病的共同机制。

Rare diseases (Austin, Tex.) Pub Date : 2016-06-22 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2016.1198458

Moones Heidari, Sam H Gerami, Brianna Bassett, Ross M Graham, Anita C G Chua, Ritambhara Aryal, Michael J House, Joanna F Collingwood, Conceição Bettencourt, Henry Houlden, Mina Ryten, John K Olynyk, Debbie Trinder, Daniel M Johnstone, Elizabeth A Milward

{"title":"Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.","authors":"Moones Heidari, Sam H Gerami, Brianna Bassett, Ross M Graham, Anita C G Chua, Ritambhara Aryal, Michael J House, Joanna F Collingwood, Conceição Bettencourt, Henry Houlden, Mina Ryten, John K Olynyk, Debbie Trinder, Daniel M Johnstone, Elizabeth A Milward","doi":"10.1080/21675511.2016.1198458","DOIUrl":"https://doi.org/10.1080/21675511.2016.1198458","url":null,"abstract":"We previously demonstrated elevated brain iron levels in myelinated structures and associated cells in a hemochromatosis Hfe (-/-) xTfr2 (mut) mouse model. This was accompanied by altered expression of a group of myelin-related genes, including a suite of genes causatively linked to the rare disease family 'neurodegeneration with brain iron accumulation' (NBIA). Expanded data mining and ontological analyses have now identified additional myelin-related transcriptome changes in response to brain iron loading. Concordance between the mouse transcriptome changes and human myelin-related gene expression networks in normal and NBIA basal ganglia testifies to potential clinical relevance. These analyses implicate, among others, genes linked to various rare central hypomyelinating leukodystrophies and peripheral neuropathies including Pelizaeus-Merzbacher-like disease and Charcot-Marie-Tooth disease as well as genes linked to other rare neurological diseases such as Niemann-Pick disease. The findings may help understand interrelationships of iron and myelin in more common conditions such as hemochromatosis, multiple sclerosis and various psychiatric disorders. ","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"4 1","pages":"e1198458"},"PeriodicalIF":0.0,"publicationDate":"2016-06-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2016.1198458","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34349497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. EAST综合征:KCNJ10突变的临床、病理生理和遗传方面

Rare diseases (Austin, Tex.) Pub Date : 2016-06-01 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2016.1195043

Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, Detlef Bockenhauer

引用次数: 36

SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome. SDF1-CXCR4信号传导:参与diggeorge /22q11缺失综合征的新参与者

Rare diseases (Austin, Tex.) Pub Date : 2016-06-01 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2016.1195050

Jean-Loup Duband, Sophie Escot, Claire Fournier-Thibault

{"title":"SDF1-CXCR4 signaling: A new player involved in DiGeorge/22q11-deletion syndrome.","authors":"Jean-Loup Duband, Sophie Escot, Claire Fournier-Thibault","doi":"10.1080/21675511.2016.1195050","DOIUrl":"https://doi.org/10.1080/21675511.2016.1195050","url":null,"abstract":"The DiGeorge/22q11-deletion syndrome (22q11DS), also known as velocardiofacial syndrome, is a congenital disease causing numerous structural and behavioral disorders, including cardiac outflow tract anomalies, craniofacial dysmorphogenesis, parathyroid and thymus hypoplasia, and mental disorders. It results from a unique chromosomal microdeletion on the 22q11.2 region in which the transcriptional activator TBX1 is decisive for the occurrence of the disease. During embryogenesis, Tbx1 is required for patterning of pharyngeal region giving rise to structures of the face, neck and chest. Genetic and developmental studies demonstrated that the severity and variability of the syndrome are determined by Tbx1 targets involved in pharyngeal neural crest cell migration and survival. Recently, we demonstrated that the chemokine Sdf1/Cxcl12 and its receptor Cxcr4 are genetically downstream of Tbx1 during pharyngeal development and that reduction of CXCR4 signaling results in defects which recapitulate the major morphological anomalies of 22q11DS, supporting the possibility of a pivotal role for the SDF1/CXCR4 axis in its etiology. ","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"4 1","pages":"e1195050"},"PeriodicalIF":0.0,"publicationDate":"2016-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2016.1195050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34349494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 9

Simvastatin offers new prospects for the treatment of Duchenne muscular dystrophy. 辛伐他汀为治疗杜氏肌营养不良症提供了新的前景。

Rare diseases (Austin, Tex.) Pub Date : 2016-04-12 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2016.1156286

Nicholas P Whitehead, Min Jeong Kim, Kenneth L Bible, Marvin E Adams, Stanley C Froehner

{"title":"Simvastatin offers new prospects for the treatment of Duchenne muscular dystrophy.","authors":"Nicholas P Whitehead, Min Jeong Kim, Kenneth L Bible, Marvin E Adams, Stanley C Froehner","doi":"10.1080/21675511.2016.1156286","DOIUrl":"https://doi.org/10.1080/21675511.2016.1156286","url":null,"abstract":"Duchenne muscular dystrophy (DMD) is the most common and severe inherited neuromuscular disorder. DMD is caused by mutations in the gene encoding the dystrophin protein in muscle fibers. Dystrophin was originally proposed to be a structural protein that protected the sarcolemma from stresses produced during contractions. However, more recently, experimental evidence has revealed a far more complicated picture, with the loss of dystrophin causing dysfunction of multiple muscle signaling pathways, which all contribute to the overall disease pathophysiology. Current gene-based approaches for DMD are conceptually appealing since they offer the potential to restore dystrophin to muscles, albeit a partially functional, truncated form of the protein. However, given the cost and technical challenges facing these genetic approaches, it is important to consider if relatively inexpensive, clinically used drugs may be repurposed for treating DMD. Here, we discuss our recent findings showing the potential of simvastatin as a novel therapy for DMD. ","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"4 1","pages":"e1156286"},"PeriodicalIF":0.0,"publicationDate":"2016-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2016.1156286","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34355398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 11

The calpain-suppressing effects of olesoxime in Huntington's disease. 磺肟在亨廷顿氏病中的calpain抑制作用。

Rare diseases (Austin, Tex.) Pub Date : 2016-04-06 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2016.1153778

Jonasz J Weber, Midea M Ortiz Rios, Olaf Riess, Laura E Clemens, Huu P Nguyen

{"title":"The calpain-suppressing effects of olesoxime in Huntington's disease.","authors":"Jonasz J Weber, Midea M Ortiz Rios, Olaf Riess, Laura E Clemens, Huu P Nguyen","doi":"10.1080/21675511.2016.1153778","DOIUrl":"https://doi.org/10.1080/21675511.2016.1153778","url":null,"abstract":"Olesoxime, a small molecule drug candidate, has recently attracted attention due to its significant beneficial effects in models of several neurodegenerative disorders including Huntington's disease. Olesoxime's neuroprotective effects have been assumed to be conveyed through a direct, positive influence on mitochondrial function. In a long-term treatment study in BACHD rats, the latest rat model of Huntington's disease, olesoxime revealed a positive influence on mitochondrial function and improved specific behavioral and neuropathological phenotypes. Moreover, a novel target of the compound was discovered, as olesoxime was found to suppress the activation of the calpain proteolytic system, a major contributor to the cleavage of the disease-causing mutant huntingtin protein into toxic fragments, and key player in degenerative processes in general. Results from a second model of Huntington's disease, the Hdh (Q111) knock-in mouse, confirm olesoxime's calpain-suppressing effects and support the therapeutic value of olesoxime for Huntington's disease and other disorders involving calpain overactivation. ","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"4 1","pages":"e1153778"},"PeriodicalIF":0.0,"publicationDate":"2016-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2016.1153778","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34355397","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 15

Orotate phosphoribosyltransferase is overexpressed in malignant pleural mesothelioma: Dramatically responds one case in high OPRT expression. Orotate磷酸核糖基转移酶在恶性胸膜间皮瘤中的过表达:OPRT高表达的一例显著响应。

Rare diseases (Austin, Tex.) Pub Date : 2016-04-05 eCollection Date: 2016-01-01 DOI: 10.1080/21675511.2016.1165909

Yoichiro Hamamoto, Shinjiro Takeoka, Atsuto Mouri, Munehisa Fukusumi, Kazushige Wakuda, Tatsuya Ibe, Chie Honma, Yoshihito Arimoto, Kazuaki Yamada, Miyuki Wagatsuma, Akito Tashiro, Shingo Kamoshida, Mitsuhiro Kamimura

{"title":"Orotate phosphoribosyltransferase is overexpressed in malignant pleural mesothelioma: Dramatically responds one case in high OPRT expression.","authors":"Yoichiro Hamamoto, Shinjiro Takeoka, Atsuto Mouri, Munehisa Fukusumi, Kazushige Wakuda, Tatsuya Ibe, Chie Honma, Yoshihito Arimoto, Kazuaki Yamada, Miyuki Wagatsuma, Akito Tashiro, Shingo Kamoshida, Mitsuhiro Kamimura","doi":"10.1080/21675511.2016.1165909","DOIUrl":"https://doi.org/10.1080/21675511.2016.1165909","url":null,"abstract":"Objective: Malignant pleural mesothelioma (MPM) is a rare and aggressive, treatment-resistant cancer. Pemetrexed, an inhibitor of thymidylate synthase (TS), is used worldwide for MPM as a first-line chemotherapy regimen. However, there is little consensus for a second-line chemotherapy. S-1, a highly effective dihydropyrimidine dehydrogenase (DPD)-inhibitory fluoropyrimidine, mainly acts via a TS inhibitory mechanism similar to pemetrexed. Orotate phosphoribosyltransferase (OPRT) is a key enzyme related to the first step activation of 5-fluorouracil (5-FU) for inhibiting RNA synthesis. We investigated 5-FU related-metabolism proteins, especially focusing on OPRT expression, in MPM Methods and Patients: Fifteen MPM patients who were diagnosed between July 2004 and December 2013 were enrolled. We examined the protein levels of 5-FU metabolism-related enzymes (TS, DPD, OPRT, and thymidine phosphorylase [TP]) in 14 casesResults: High TS, DPD, OPRT, and TP expressions were seen in 28.6%, 71.4%, 85.7%, and 35.7% of patients, respectively. We found that OPRT expression was extremely high in MPM tissue. We experienced one remarkable case of highly effective S-1 combined therapy for pemetrexed refractory MPM. This case also showed high OPRT protein expression Conclusion: The present study suggests that OPRT expression is high in MPM tumors. Although pemetrexed is mainly used for MPM chemotherapy as a TS inhibitor, S-1 has potential as an anticancer drug not only as a TS inhibitor but also inhibiting RNA synthesis through the OPRT pathway. This is the first report investigating OPRT protein expressions in MPM.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"4 1","pages":"e1165909"},"PeriodicalIF":0.0,"publicationDate":"2016-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/21675511.2016.1165909","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34620266","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1