Showing papers in "Gene in 2016"
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TL;DR: A comparative overview of the genotype-phenotype relationships in inherited diseases associated with ENaC mutations, including multisystem pseudohypoaldosteronism (PHA1B), Liddle syndrome, cystic fibrosis-like disease and essential hypertension is presented.
311 citations
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TL;DR: FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection.
208 citations
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TL;DR: There is a need to identify new approaches for treatment of this ultimately fatal disease, as no definitive treatment option can provide a cure and currently ALS is managed by drugs and other supportive therapies.
204 citations
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TL;DR: The history and current progress of sMaf studies in relation to their partners are summarized, and mouse genetic analyses have revealed that various biological pathways are under the regulation of CNC-sMaf heterodimers.
162 citations
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TL;DR: The kinetics of DNA degradation in serum and saliva followed a first-order clearance model, and Urine had the strongest effect on DNA degradation, and the half-lives of DNA with protein were relatively longer than those of naked DNA.
142 citations
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TL;DR: The discovery, structure, cellular location and physiological effects of the catalytic subunit alpha of protein kinase A (encoded by the gene PRKACA) are focused on and the potential role of this essential gene as a molecular mediator of certain disease states is explored.
137 citations
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TL;DR: This review summarizes the current understanding of the structure and function of this essential cellular chaperoning system.
137 citations
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TL;DR: This review focuses on the TnT isoform genes and their molecular evolution, alternative splicing, developmental regulation, structure-function relationships of TNT proteins, posttranslational modifications, and myopathic mutations and abnormal splicing.
131 citations
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TL;DR: How structural and genetic studies of SAA1 have advanced the authors' understanding of the physiological functions of the SAA proteins is discussed, and how high levels of sequence homology among these variants have been reported as risk factors of cardiovascular diseases and several types of cancer.
128 citations
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TL;DR: It is concluded that XIST functioned as an oncogene in NPC through up-regulating E2F3 in part through 'spongeing' miR-34a-5p.
120 citations
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TL;DR: This review summarizes the knowledge learned from studies over the past three decades, focusing on the evolutionary lineage of calponin isoform genes, their tissue- and cell type-specific expressions, structure-function relationships, and mechanoregulation.
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TL;DR: This is the first metagenomic study on the microbiome of mangroves in the Red Sea, and the first application of unbiased 454-pyrosequencing to study the rhizosphere microbiome associated with Avicennia marina, providing the first insights into the range of functions and microbial diversity in the Rhizosphere and soil sediments of gray mangrove (A. marina) in theRed Sea.
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TL;DR: Exosomes are selectively enriched in some transmembrane proteins that can be genetically engineered to display ligands/homing peptides on their surface which confers exosome targeting capability to cells bearing cognate receptors, which makes them an attractive vehicle for therapeutic delivery.
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TL;DR: It is found that HOTAIR was significantly upregulated in the synovial fluid of TMJ OA patients compared with that of normal controls, and knockdown of HotaIR in IL-1β-induced TMj OA in vitro model could not only reverse the IL- 1β-stimulated expressions of MMP1, MMP3 and MMP9, but also significantly decrease the apoptosis rate induced by IL-2β in primary rabbit condylar chond
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TL;DR: This review will focus on the structure and molecular biology of p38s, and their specific roles in heart, especially regarding myocyte proliferation, apoptosis, and hypertrophic responses.
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TL;DR: This study attempts to elaborate and bridge the gaps on the cross-talk interactions that NFkB is a part of, during its activation pathway.
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TL;DR: The growing understanding and potential utilization of MIAT is reviewed, which is involved in various diseases, pathological and physiological processes, such as myocardial infarction, diabetic retinopathy, paranoid schizophrenia, microvascular dysfunction and formation of nuclear bodies, and neurogenic commitment.
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TL;DR: Exposure to overexpression of miR-181a significantly enhanced the sensitivity of SGC7901/CDDP cells to cisplatin in vitro and reduced the volumes of gastric tumor xenografts in nude mice, providing evidence that miR -181a functions as a primary autophagy-related modulator and reverses cisplatile resistance in GC cells.
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TL;DR: This review aims to summarize the current knowledge of Sall4, including a SALL4-based approach to classify and target cancers, and questions about this important gene still remain unanswered, specifically, on how this gene regulates cell fates at a molecular level.
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TL;DR: Alagille syndrome, which primarily affects the liver, heart, skeleton, eye, face, kidney and vasculature is caused by loss of function mutations in JAG1, demonstrating that haploinsufficiency for Jag1 is disease causing, at least in these tissues.
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TL;DR: A comprehensive review is carried out to provide a basic understanding of biochemical mechanisms involved in N OS3 regulation and how genetic variations in NOS3 may translate into relevant clinical and pharmacogenetic implications.
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TL;DR: This newly discovered aspect of BACH1 gene provides new insight into cancer progression study and stands on its master regulator role in metastasis process, raising the possibility of considering it as a potential target for cancer therapy.
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TL;DR: Various aspects of molecular mechanisms triggered by type I interferons and toll-like receptor signaling by the Janus activated kinase/signal transducer activation of transcription and interferon regulatory factor pathway are described.
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TL;DR: The current state of the authors' knowledge on NGLY1 and its gene product in mammalian cells is summarized, indicating the functional importance of this enzyme.
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TL;DR: An overview of critical Polδ activities in the context of pathologic conditions is provided, showingPolδ has been shown to be important for multiple forms of DNA repair, including nucleotide excision repair, double strand break repair, base excision Repair, and mismatch repair.
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TL;DR: The present mini review highlights the recent investigations related to the importance of miR-21 in different types of DM based on the up-to-date reports.
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TL;DR: This review focuses on recent studies on H SP90AB1, if possible in comparison with its close homologue HSP90AA1, and aims to identify targets for new therapeutic approaches in cancer treatment.
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TL;DR: The cause and consequence of hypoxia-modulated lncRNAs in cancer as well as their functional mechanisms are summarized, highlighting the specific roles of lnc RNAs in Hypoxia response in cancer.
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TL;DR: Evidence indicates that Nrf1 plays an important role in regulating a range of cellular functions including oxidative stress response, differentiation, inflammatory response, metabolism, and maintaining proteostasis.
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TL;DR: The regulatory roles of tRFs in translation, viral infections, and carcinogenesis are discussed, and the miRNAs that overlap with t RFs sequences in humans are catalogued using miRBase.