Genetics on early onset inflammatory bowel disease: an update
We describe genetic location and functions of various genetic defect associated with VEO-IBD with their key clinical manifestations. We also provide clinical clues to suspect these conditions and approaches to the diagnosis of these disorders and suitable treatment options. (Source: Genes and Diseases)
Source: Genes and Diseases - October 15, 2019 Category: Genetics & Stem Cells Source Type: research
Enzymatic and Metabolic Regulation of Lysine Succinylation
Publication date: Available online 8 October 2019Source: Genes & DiseasesAuthor(s): Annapoorna Sreedhar, Elizabeth K. Wiese, Taro HitosugiAbstractLysine succinylation (Ksucc), defined as a transfer of a succinyl group to a lysine residue of a protein, is a newly identified protein post-translational modification [1-3]. This chemical modification is reversible, dynamic, and evolutionarily conserved [4] where it has been comprehensively studied in both bacterial and mammalian cells [5-7]. Numerous proteins involved in the regulation of various cellular and biological processes have been shown to be heavily succinylated [5-7]...
Source: Genes and Diseases - October 10, 2019 Category: Genetics & Stem Cells Source Type: research
Osteogenic and antibacterial dual functions of a novel Levofloxacin loaded mesoporous silica microspheres/nano-hydroxyapatite/polyurethane composite scaffold
Publication date: Available online 5 October 2019Source: Genes & DiseasesAuthor(s): Zhiping Kuang, Guangming Dai, Ruijie Wan, Dongli Zhang, Chen Zhao, Cheng Chen, Jidong Li, Hongchen Gu, Wei HuangAbstractLev/MSNs/n-HA/PU has been proved to be a novel scaffold material to treat bone defect caused by chronic osteomyelitis. We have previously identified that this material can effectively treat chronic osteomyelitis caused by Staphylococcus aureus in vivo. However, the potential mechanisms of antibacterial and osteogenic induction properties remain unclear. Thus, for osteogenesis property, immunohistochemistry, PCR, and wester...
Source: Genes and Diseases - October 6, 2019 Category: Genetics & Stem Cells Source Type: research
miR-21a inhibits decidual cell apoptosis by targeting Pdcd4
Publication date: Available online 5 October 2019Source: Genes & DiseasesAuthor(s): Rong Li, Yi-xian Wen, Yan-qing Geng, Yong-jiang Zhou, Yue Zhang, Yu-bin Ding, Xue-mei Chen, Ru-fei Gao, Jun-lin He, Ying-xiong Wang, Xue-qing LiuAbstractDecidualization of endometrial stromal cells (ESCs) accompanied with embryo implantation is a key process in mammalian reproduction. Evidence suggests that maintenance of decidual cells function is essential. As a critical part in post-transcriptional gene regulation, microRNAs (miRNAs/miR) have been confirmed to be involved in decidualization. However, whether microRNAs regulate decidual c...
Source: Genes and Diseases - October 6, 2019 Category: Genetics & Stem Cells Source Type: research
Metabolic Reprogram Associated with Epithelial-mesenchymal Transition in Tumor Progression and Metastasis
Publication date: Available online 3 October 2019Source: Genes & DiseasesAuthor(s): Yifan Wang, Chenfang Dong, Binhua P. ZhouAbstractEpithelial-mesenchymal Transition (EMT) is a de-differentiation program that imparts tumor cells with the phenotypic and cellular plasticity required for drug resistance, metastasis, and recurrence. This dynamic and reversible events is governed by a network of EMT-transcription factors (EMT-TFs) through epigenetic regulation. Many chromatin modifying-enzymes utilize metabolic intermediates as cofactors or substrates; this suggests that EMT is subjected to the metabolic regulation. Conversely...
Source: Genes and Diseases - October 4, 2019 Category: Genetics & Stem Cells Source Type: research
ROS and Lipid Droplet Accumulation Induced by High Glucose Exposure in Healthy Colon and Colorectal Cancer Stem Cells
Publication date: Available online 25 September 2019Source: Genes & DiseasesAuthor(s): Luca Tirinato, Francesca Pagliari, Simone Di Franco, Elisa Sogne, Maria Grazia Marafioti, Jeanette Jansen, Andrea Falqui, Matilde Todaro, Patrizio Candeloro, Carlo Liberale, Joao Seco, Giorgio Stassi, Enzo Di FabrizioAbstractLipid Droplets (LDs) are emerging as crucial players in colon cancer development and maintenance. Their expression has been associated with high tumorigenicity in Cancer Stem Cells (CSCs), so that they have been proposed as a new functional marker in Colorectal Cancer Stem Cells (CR-CSCs). They are also indirectly in...
Source: Genes and Diseases - September 25, 2019 Category: Genetics & Stem Cells Source Type: research
An updated review on phenocopies of primary immunodeficiency diseases
Publication date: Available online 24 September 2019Source: Genes & DiseasesAuthor(s): Ankita Singh, Ankur K. Jindal, Vibhu Joshi, Gummadi Anjani, Amit RawatAbstractPrimary immunodeficiency diseases (PIDs) refer to a heterogenous group of disorders characterized clinically by increased susceptibility to infections, autoimmunity and increased risk of malignancies.These group of disorders present with clinical manifestations similar to PIDs with known genetic defects but have either no genetic defect or have a somatic mutation and thus have been labelled as “Phenocopies of PIDs”. These diseases have been further subdivid...
Source: Genes and Diseases - September 24, 2019 Category: Genetics & Stem Cells Source Type: research
SRSFs Mediate the Function of AR in the Ovarian Granulosa Cells of Patients with PCOS
This study verified the existence of alternative splicing variant of AR (AR-SVs)in the GCs of PCOS patients and found that the function of AR decreased significantly in the presence of AR-SVs. And compared to the normal individuals, the expression of Serine/arginine-rich splicing factor 2(SRSF2) was higher and the expression of SRSF3 was lower in the GCs of patients with AR-SVs. More importantly, we found that the expression of SRSF2 was inhibited and that the expression of AR was decreased after the successful upregulation of miRNA-183, and testostrone (T) concentrations in the culture medium were increased. The results a...
Source: Genes and Diseases - September 18, 2019 Category: Genetics & Stem Cells Source Type: research
RISC assembly and post-transcriptional gene regulation in Hepatocellular Carcinoma
Publication date: Available online 17 September 2019Source: Genes & DiseasesAuthor(s): Prasanna.K. Santhekadur, Divya.P. KumarAbstractRNA-induced silencing complex (RISC) is one of the basic eukaryotic cellular machinery which plays a pivotal role in post-transcriptional gene regulation. Discovery of miRNAs and their role in gene regulation have changed the course of modern biology. The method of gene silencing using small interfering RNAs and miRNAs has become major tool in molecular biology and genetic engineering. Hepatocellular carcinoma (HCC) is a very common malignancy of liver in developing countries and due to vari...
Source: Genes and Diseases - September 18, 2019 Category: Genetics & Stem Cells Source Type: research
Stem Cell Therapy for Chronic Skin Wounds in the Era of Personalized Medicine: from Bench to Bedside
Publication date: Available online 17 September 2019Source: Genes & DiseasesAuthor(s): Elam Coalson, Elliot Bishop, Wei Liu, Yixiao Feng, Mia Spezia, Bo Liu, Yi Shen, Di Wu, Scott Du, Alex Li, Zhenyu Ye, Ling Zhao, Daigui Cao, Alissa Li, Ofir Hagag, Alison Deng, Winny Liu, Mingyang Li, Rex C. Haydon, Lewis ShiAbstractWith the significant financial burden of chronic cutaneous wounds on the healthcare system, not to the personal burden mention on those individuals afflicted, it has become increasingly essential to improve our clinical treatments. This requires the translation of the most recent benchtop approaches to clinica...
Source: Genes and Diseases - September 18, 2019 Category: Genetics & Stem Cells Source Type: research
Highly expressed BMP9/GDF2 in postnatal mouse liver and lungs may account for its pleotropic effects on stem cell differentiation, angiogenesis, tumor growth and metabolism
Publication date: Available online 14 September 2019Source: Genes & DiseasesAuthor(s): Wei Liu, Zhongliang Deng, Zongyue Zeng, Jiaming Fan, Yixiao Feng, Xi Wang, Daigui Cao, Bo Zhang, Lijuan Yang, Bin Liu, Mikhail Pakvasa, William Wagstaff, Xiaoxing Wu, Huaxiu Luo, Jing Zhang, Meng Zhang, Fang He, Yukun Mao, Huiming Ding, Yongtao ZhangAbstractBone morphogenetic protein 9 (BMP9) (or GDF2) was originally identified from fetal mouse liver cDNA libraries. Emerging evidence indicates BMP9 exerts diverse and pleotropic functions during postnatal development and in maintaining tissue homeostasis. However, the expression landscape...
Source: Genes and Diseases - September 16, 2019 Category: Genetics & Stem Cells Source Type: research
Current Status and Prospects of Primary Immunodeficiency Diseases in Asia
Publication date: Available online 12 September 2019Source: Genes & DiseasesAuthor(s): Rakesh Kumar Pilania, Himanshi Chaudhary, Ankur Kumar Jindal, Amit Rawat, Surjit SinghAbstractPrimary Immunodeficiency Diseases (PIDs) are increasingly being reported across the World. Several advances have been made in the diagnostic and therapeutic research related to PIDs. With increasing awareness, the field of PIDs has rapidly evolved in Asia as well. In this review, we summarize the progress that has been made in the field of PIDs in Asian countries; major limitations and challenges faced by the clinicians working in this field in ...
Source: Genes and Diseases - September 13, 2019 Category: Genetics & Stem Cells Source Type: research
Platelets in Kawasaki disease: Is this only a numbers game or something beyond?
Publication date: Available online 12 September 2019Source: Genes & DiseasesAuthor(s): Kanika Arora, Sandesh Guleria, Ankur Kumar Jindal, Amit Rawat, Surjit SinghAbstractKawasaki disease (KD) is a medium vessel vasculitis with predilection to cause coronary artery abnormalities. KD is now the most common cause of acquired heart disease in developed countries. Thrombocytosis is consistently found in patients with KD, usually in 2nd to 3rd week of illness. Thrombocytopenia has occasionally been reported in the acute phase of KD. An increase or decrease in platelet number in patients with KD was initially considered to be a b...
Source: Genes and Diseases - September 13, 2019 Category: Genetics & Stem Cells Source Type: research
Obesity as potential breast cancer risk factor for postmenopausal women
Publication date: Available online 10 September 2019Source: Genes & DiseasesAuthor(s): Swati Sucharita Mohanty, Prafulla Kumar MohantyBreast cancer is the second highest prevalent cancer globally after lung cancer with 2.09 million cases during 2018. Adults about 1.9 billion were overweight and over 650 million out of these were obese during 2016. There is a significant relationship between breast cancer risk and obesity. Premature menopause and premenopausal obesity diminish the risk whereas postmenopausal obesity amplifies the risk, because adipose tissue acts as the major reservoir for estrogen biosynthesis after menopa...
Source: Genes and Diseases - September 11, 2019 Category: Genetics & Stem Cells Source Type: research
Elevation of gene expression of calcineurin, calmodulin and calsyntenin in oxidative stress induced PC12 cells
Publication date: Available online 9 September 2019Source: Genes & DiseasesAuthor(s): P. Aravind, Sarojini R. Bulbule, N. Hemalatha, R.L. Babu, K.S. DevarajuAbstractIn normal physiological conditions, reactive oxygen and nitrogen species are used as important signaling molecules in the cell. However, in excess it causes the disruption of cell resulting in their death. Oxidative stress causes influx in intracellular calcium levels leading to higher concentrations of calcium in the cell. This accelerated calcium affects both the mitochondria and nuclei leading to excitotoxicity in neurons. Intracellular calcium levels are co...
Source: Genes and Diseases - September 10, 2019 Category: Genetics & Stem Cells Source Type: research
