The fuel and engine: the roles of reprogrammed metabolism in metastasis of primary liver cancer
Publication date: Available online 7 February 2020Source: Genes & DiseasesAuthor(s): Wen-Wei Zhu, Ming Lu, Xiang-Yu Wang, Xu Zhou, Chao Gao, Lun-Xiu QinAbstractMetastasis and metabolism reprogramming are two major hallmarks of cancer. In the initiation and progression of cancer, tumor cells are known to undergo fundamental metabolic changes to sustain their development and progression. In recent years, much more attentions have been drawn to their important roles in facilitating cancer metastasis through regulating the biological properties. In this review, we summarized the recent progresses in the studies of metabolism r...
Source: Genes and Diseases - February 8, 2020 Category: Genetics & Stem Cells Source Type: research

Na,K-ATPase as a target for endogenous cardiotonic steroids: What's the evidence?
Publication date: Available online 22 January 2020Source: Genes & DiseasesAuthor(s): Sergei N. Orlov, Artem M. Tverskoi, Svetlana V. Sidorenko, Larisa V. Smolyaninova, Olga D. Lopina, Nickolai O. Dulin, Elizaveta A. KlimanovaAbstractWith an exception of few reports, the plasma concentration of ouabain and marinobufagenin, mostly studied cardiotonic steroids (CTS) assessed by immunoassay techniques, is less than 1 nM. During the last 3 decades, the implication of these endogenous CTS in the pathogenesis of hypertension and other volume-expanded disorders is widely disputed. The threshold for inhibition by CTS of human and ...
Source: Genes and Diseases - February 7, 2020 Category: Genetics & Stem Cells Source Type: research

Primary Immune Deficiencies – a rapidly emerging area of basic and clinical research
Publication date: Available online 1 February 2020Source: Genes & DiseasesAuthor(s): Surjit Singh, Xiaodong Zhao, Huijie Zhang (Source: Genes and Diseases)
Source: Genes and Diseases - February 2, 2020 Category: Genetics & Stem Cells Source Type: research

ITGA2 promotes expression of ACLY and CCND1 in enhancing breast cancer stemness and metastasis
Publication date: Available online 1 February 2020Source: Genes & DiseasesAuthor(s): Valery Adorno-Cruz, Andrew D. Hoffmann, Xia Liu, Nurmaa K. Dashzeveg, Rokana Taftaf, Brian Wray, Ruth A. Keri, Huiping LiuAbstractCancer metastasis is largely incurable and accounts for 90% of breast cancer deaths, especially for the aggressive basal-like or triple negative breast cancer (TNBC). Combining patient database analyses and functional studies, we examined the association of integrin family members with clinical outcomes as well as their connection with previously identified microRNA regulators of metastasis, such as miR-206 that...
Source: Genes and Diseases - February 1, 2020 Category: Genetics & Stem Cells Source Type: research

A Novel ABCD1 G1202A Mutation in a Chinese Patient with Pure Adrenomyeloneuropathy and Literature Review
ConclusionsWe report a rare Chinese pure AMN case with slowly progressive weakness of the lower extremities, caused by a novel c.1202G>A mutation in ABCD1 gene. The literature review indicates that spastic paraplegia is the mainly clinical manifestation in patients with AMN. VLCFAs and ABCD1 gene test should be performed in patients with spastic paraplegia of the lower limbs to diagnose AMN. (Source: Genes and Diseases)
Source: Genes and Diseases - January 29, 2020 Category: Genetics & Stem Cells Source Type: research

Advances in the Early Diagnosis of Hepatocellular Carcinoma
Publication date: Available online 27 January 2020Source: Genes & DiseasesAuthor(s): Weiyi Wang, Chao WeiAbstractHepatocellular carcinoma (HCC) is one of the most prevalent cancers globally. In contrast to the declining death rates observed for all other common cancers such as breast, lung, and prostate cancers, the death rates for HCC continue to increase by ∼2-3% per year because HCC is frequently diagnosed late and there is no curative therapy for an advanced HCC. The early diagnosis of HCC is truly a big challenge. Over the past years, the early diagnosis of HCC has relied on surveillance with ultrasonography (US) an...
Source: Genes and Diseases - January 28, 2020 Category: Genetics & Stem Cells Source Type: research

Insulin-resistance and depression cohort data mining to identify nutraceutical related DNA methylation biomarker for type 2 diabetes
Publication date: Available online 27 January 2020Source: Genes & DiseasesAuthor(s): Fengji Liang, Yuan Quan, Andong Wu, Ying Chen, Ruifeng Xu, Yuexing Zhu, Jianghui XiongAbstractInsulin-resistance (IR) is one of the most important precursors of type 2 diabetes (T2D). Recent evidence suggests an association of depression with the onset of T2D. Accumulating evidence shows that depression and T2D share common biological origins, and DNA methylation examination might reveal the link between lifestyle, disease risk, and potential therapeutic targets for T2D. Here we hypothesize that integrative mining of IR and depression coho...
Source: Genes and Diseases - January 28, 2020 Category: Genetics & Stem Cells Source Type: research

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications
Publication date: Available online 25 January 2020Source: Genes & DiseasesAuthor(s): Haoyue Xu, Hang Liu, Tao Chen, Bo song, Jin Zhu, Xing Liu, Ming Li, Cong LuoAbstractAccording to existing reports, mutations in the slow tropomyosin gene (TPM3) may lead to congenital fiber-type disproportion (CFTD), nemaline myopathy (NM) and cap myopathy (CD). They are all congenital myopathies and are associated with clinical, pathological and genetic heterogeneity. A ten-year-old girl with scoliosis was unable to wean from mechanical ventilation after total intravenous anesthesia. The girl has scoliosis, respiratory insufficiency, moti...
Source: Genes and Diseases - January 25, 2020 Category: Genetics & Stem Cells Source Type: research

Does Epigenetics have a role in Age Related Macular Degeneration and Diabetic Retinopathy?
Publication date: Available online 23 January 2020Source: Genes & DiseasesAuthor(s): S. Mohana Devi, I. Mahalaxmi, J. Kaavya, V. Chinnkulandhai, V. BalachandarAbstractEpigenetic mechanisms play an important part in the regulation of gene expression and these alterations may induce long-term changes in gene function and metabolism. They have received extensive attention in bridging the gap between environmental exposures and disease development via their influence on gene expression. DNA methylation is the earliest discovered epigenetic alteration. In this review, we try to examine the role of DNA methylation and histone mo...
Source: Genes and Diseases - January 24, 2020 Category: Genetics & Stem Cells Source Type: research

With newer tools for gene editing, is it time to revisit genetic therapy for cystic fibrosis?
Publication date: Available online 22 January 2020Source: Genes & DiseasesAuthor(s): Anuj Gupta, Ankita Gupta, Larissa Boyd (Source: Genes and Diseases)
Source: Genes and Diseases - January 23, 2020 Category: Genetics & Stem Cells Source Type: research

Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects
In conclusion, TRNT1 mutations may lead to multiple immune abnormality especially humoral and cytotoxicity defects, which indicate that SIFD is not only suffered ‘Predominantly antibody deficiencies’ in IUIS classification system, and further studies are needed to understand the pathogenesis of immunodeficiency in these patients. (Source: Genes and Diseases)
Source: Genes and Diseases - January 23, 2020 Category: Genetics & Stem Cells Source Type: research

Adenomyosis-derived extracellular vesicles endow endometrial epithelial cells with an invasive phenotype through epithelial-mesenchymal transition
In this study, AMEVs were isolated from patients with adenomyosis and characterized by transmission electron microscopy, Western blot, and nanoparticle tracking. Primary endometrial epithelial cells (EECs) were derived from normal endometrium tissues from patients with leiomyoma and co-cultured with AMEVs in vitro. AMEV uptake was examined by fluorescence confocal microscopy. The invasion of EECs was confirmed by Transwell assay. Immunohistochemistry, Western blot, and qRT-PCR were performed on EECs to illustrate the expression levels of cytokeratin 19, E-cadherin, vimentin, and zinc finger E-box-binding homeobox 1 (ZEB1)....
Source: Genes and Diseases - January 23, 2020 Category: Genetics & Stem Cells Source Type: research

The transcriptome of circulating cells indicates potential biomarkers and therapeutic targets in the course of hypertension-related myocardial infarction
Publication date: Available online 21 January 2020Source: Genes & DiseasesAuthor(s): W.E.I. Zilun, Y.A.N.G. Yining, L.I. Qiaoling, Y.I.N. Yong, W.E.I. Zhonghai, Z.H.A.N.G. Wenfeng, M.U. Dan, N.I. Jie, S.U.N. Xuan, X.U. BiaoAbstract and KeywordsHypertension (HT) is the most common public-health challenge and shows a high incidence around the world. Cardiovascular diseases are the leading cause of mortality and morbidity among the elderly (age> 65 years) in the United States. Now, there is widespread acceptance of the causal link between HT and acute myocardial infarction (MI). This is the first data-mining study to identify...
Source: Genes and Diseases - January 22, 2020 Category: Genetics & Stem Cells Source Type: research

Na,K-ATPase as a target for endogenous cardiotonic steroids: what’s the evidence?
Publication date: Available online 22 January 2020Source: Genes & DiseasesAuthor(s): Sergei N. Orlov, Artem M. Tverskoi, Svetlana V. Sidorenko, Larisa V. Smolyaninova, Olga D. Lopina, Nickolai O. Dulin, Elizaveta A. KlimanovaAbstractWith an exception of few reports, the plasma concentration of ouabain and marinobufagenin, mostly studied cardiotonic steroids (CTS) assessed by immunoassay techniques, is less than 1 nM. During the last 3 decades, the implication of these endogenous CTS in the pathogenesis of hypertension and other volume-expanded disorders is widely disputed. The threshold for inhibition by CTS of human and r...
Source: Genes and Diseases - January 22, 2020 Category: Genetics & Stem Cells Source Type: research

VPS33B suppresses lung adenocarcinoma metastasis and chemoresistance to cisplatin
Publication date: Available online 8 January 2020Source: Genes & DiseasesAuthor(s): Zhen Liu, Jiahao Liu, Yang Li, Hao Wang, Zixi Liang, Xiaojie Deng, Qiaofen Fu, Weiyi Fang, Ping XuAbstractThe presence of VPS33B in tumors has rarely been reported. Downregulated VPS33B protein expression is an unfavorable factor that promotes the pathogenesis of lung adenocarcinoma (LUAD). Overexpressed VPS33B was shown to reduce the migration, invasion, metastasis, and chemoresistance of LUAD cells to cisplatin (DDP) in vivo and in vitro. Mechanistic analyses have indicated that VPS33B first suppresses epidermal growth factor receptor (...
Source: Genes and Diseases - January 21, 2020 Category: Genetics & Stem Cells Source Type: research