Rare diseases (Austin, Tex.)最新文献_第7页

Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) 高钙血症型卵巢小细胞癌(scoht)中肿瘤抑制因子SMARCA4的缺失

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/2167549X.2014.967148

Pilar Ramos, A. Karnezis, William P. D. Hendricks, Yemin Wang, Waibhav Tembe, V. Zismann, Christophe Legendre, Winnie S. Liang, M. Russell, D. Craig, J. Farley, B. Monk, S. Anthony, A. Sekulic, H. Cunliffe, D. Huntsman, J. Trent

{"title":"Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)","authors":"Pilar Ramos, A. Karnezis, William P. D. Hendricks, Yemin Wang, Waibhav Tembe, V. Zismann, Christophe Legendre, Winnie S. Liang, M. Russell, D. Craig, J. Farley, B. Monk, S. Anthony, A. Sekulic, H. Cunliffe, D. Huntsman, J. Trent","doi":"10.4161/2167549X.2014.967148","DOIUrl":"https://doi.org/10.4161/2167549X.2014.967148","url":null,"abstract":"Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), is a rare and understudied cancer with a dismal prognosis. SCCOHT's infrequency has hindered empirical study of its biology and clinical management. However, we and others have recently identified inactivating mutations in the SWI/SNF chromatin remodeling gene SMARCA4 with concomitant loss of SMARCA4 protein in the majority of SCCOHT tumors.1–4 Here we summarize these findings and report SMARCA4 status by targeted sequencing and/or immunohistochemistry (IHC) in an additional 12 SCCOHT tumors, 3 matched germlines, and the cell line SCCOHT-1. We also report the identification of a homozygous inactivating mutation in the gene SMARCB1 in one SCCOHT tumor with wild-type SMARCA4, suggesting that SMARCB1 inactivation may also play a role in the pathogenesis of SCCOHT. To date, SMARCA4 mutations and protein loss have been reported in the majority of 69 SCCOHT cases (including 2 cell lines). These data firmly establish SMARCA4 as a tumor suppressor whose loss promotes the development of SCCOHT, setting the stage for rapid advancement in the biological understanding, diagnosis, and treatment of this rare tumor type.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4161/2167549X.2014.967148","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70554117","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: 43

Motor neuron degeneration in spinal and Bulbar Muscular Atrophy is a skeletal muscle-driven process: Relevance to therapy development and implications for related motor neuron diseases 脊髓和球性肌萎缩的运动神经元退化是一个骨骼肌驱动的过程:与治疗发展和相关运动神经元疾病的意义

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/2167549X.2014.962402

Constanza J. Cortes, A. L. La Spada

引用次数: 4

Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias 揭示TRPV4突变导致骨骼发育不良的机制

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/2167549X.2014.962971

H. Leddy, A. McNulty, F. Guilak, W. Liedtke

引用次数: 23

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome 含有MBD5蛋白的甲基结合域是2q23.1缺失综合征的转录调控因子

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/2167549X.2014.967151

K. Walz, Juan I. Young

引用次数: 3

Gene therapy for Wiskott-Aldrich Syndrome—Long-term reconstitution and clinical benefits, but increased risk for leukemogenesis Wiskott-Aldrich综合征的基因治疗-长期重建和临床益处，但增加了白血病发生的风险

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/21675511.2014.947749

C. Braun, Maximilian Witzel, A. Paruzynski, K. Boztug, C. von Kalle, M. Schmidt, C. Klein

引用次数: 21

Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13 脊椎骨发育不良综合征(SCD-EDS)和突变型锌转运蛋白ZIP13

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/21675511.2014.974982

Bum-Ho Bin, Shintaro Hojyo, Tae Ryong Lee, T. Fukada

引用次数: 24

TDP-43-The key to understanding amyotrophic lateral sclerosis. tdp -43-了解肌萎缩侧索硬化的关键。

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/21675511.2014.944443

Zuoshang Xu, Chunxing Yang

引用次数: 17

Muscle-specific microRNAs as biomarkers of Duchenne Muscular Dystrophy progression and response to therapies 肌肉特异性microrna作为杜氏肌营养不良进展和对治疗反应的生物标志物

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/21675511.2014.974969

Lorenzo Giordani, M. Sandonà, A. Rotini, P. L. Puri, S. Consalvi, V. Saccone

{"title":"Muscle-specific microRNAs as biomarkers of Duchenne Muscular Dystrophy progression and response to therapies","authors":"Lorenzo Giordani, M. Sandonà, A. Rotini, P. L. Puri, S. Consalvi, V. Saccone","doi":"10.4161/21675511.2014.974969","DOIUrl":"https://doi.org/10.4161/21675511.2014.974969","url":null,"abstract":"Recent studies have revealed the contribution of fibro-adipogenic progenitors (FAPs) to the pathogenesis and progression of Duchenne Muscular Dystrophy (DMD). While FAPs direct compensatory regeneration at early stages of disease, as the disease progresses they contribute to the progressive replacement of contractile myofibers with fibrotic scars and fatty infiltration. Using the mouse model of DMD – the mdx mice - we have recently reported that FAPs mediate the ability of HDAC inhibitors (HDACi) to promote muscle regeneration and prevent fibro-adipogenic degeneration at early stages of disease. This effect is mediated by the induction of myomiRs that, in turn, target the SWI/SNF components BAF60A and B, thereby favoring the formation of BAF60C-based SWI/SNF complex, which directs the switch from the fibro-adipogenic to the myogenic lineage. Here we show direct evidence of induction of miR-206 and BAF60C, and reduction of BAF60A, in FAPs isolated from mdx muscles exposed to the HDACi Trichostatin A (TSA). We also discuss how increased expression of myomiRs in dystrophic muscles can be integrated with circulating myomiRs to provide accurate biomarkers of disease progression and response to treatment.","PeriodicalId":74639,"journal":{"name":"Rare diseases (Austin, Tex.)","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4161/21675511.2014.974969","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70554438","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: 17

Impaired striatal function in Huntington's disease is due to aberrant p75NTR signaling 亨廷顿氏病纹状体功能受损是由于p75NTR信号异常

Rare diseases (Austin, Tex.) Pub Date : 2014-01-01 DOI: 10.4161/2167549X.2014.968482

Joshua L. Plotkin, D. Surmeier

引用次数: 9

Alkaptonuria. 尿黑酸尿。

Rare diseases (Austin, Tex.) Pub Date : 2013-12-18 eCollection Date: 2013-01-01 DOI: 10.4161/rdis.27475

Jemma B Mistry, Marwan Bukhari, Adam M Taylor

引用次数: 1