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https://www.readbyqxmd.com/read/28636882/foxn1-italian-founder-mutation-in-indian-family-implications-in-prenatal-diagnosis
#1
Akella Radha Rama Devi, Nagesh Narayan Panday, Shaik Mohammad Naushad
The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28636881/mitochondrial-genome-of-helice-tientsinensis-brachyura-grapsoidea-varunidae-gene-rearrangements-and-higher-level-phylogeny-of-the-brachyura
#2
Zhao-Zhe Xin, Yu-Liu, Dai-Zhen Zhang, Zheng-Fei Wang, Hua-Bin Zhang, Bo-Ping Tang, Chun-Lin Zhou, Xin-Yue Chai, Qiu-Ning Liu
The mitochondrial genome (mt genome) provides important information for understanding molecular evolution and phylogeny. The further understand the molecular evolution and phylogeny of Helice tientsinensis, the complete mt genome was determined. It is 16,212bp long and includes 13 protein-coding genes (PCGs), 22 tRNA genes, two rRNA genes and a control region. The genome composition of H. tientsinensis was highly A+T biased 69.0% and showed negative AT skew (-0.017) and GC skew (-0.289). One PCG, all rRNAs and 12 of the tRNAs appeared to be rearranged with respect to the pancrustacean ground pattern gene order...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28600182/mesenchymal-stem-cells-can-induce-regulatory-t-cells-via-modulating-mir-126a-but-not-mir-10a
#3
Maryam Khosravi, Mohammad Hossein Karimi, Mahdokht Hossein Aghdaie, Mehdi Kalani, Sina Naserian, Ali Bidmeshkipour
Among the different immunosuppressive properties attributed to mesenchymal stem cells (MSCs), one relies on their ability to induce regulatory T cells (iTregs) from conventional T cells under particular inflammatory context. Stable Foxp3 expression plays a major role in the phenotypic and functional stability of iTregs. However, the mechanism behind Foxp3 induction in iTregs by MSCs remains unknown. Here, we assessed the possible effect of MSCs on miR-126a and miR-10a expression in iTregs and, consequently on Foxp3 stability, a regulatory pathway that has not yet been explored...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28633917/polymorphic-variants-of-caspase-genes-8-3-in-the-risk-prediction-of-coronary-artery-disease
#4
Kishore Kumar Gundapaneni, Nivas Shyamala, Rajesh Kumar Galimudi, Keerthi Kupsal, Srilatha Reddy Gantala, Chiranjeevi Padala, Padma Gunda, Mohini Aiyengar Tupurani, Kaushik Puranam, Sanjib Kumar Sahu, Surekha Rani Hanumanth
Apoptosis has been involved in a number of pathological conditions including coronary artery disease (CAD). Caspases (CASP) are important regulators and executioners in both extrinsic and intrinsic apoptotic pathways and play a crucial role in the development and progression of CAD. The aim of the present study is to examine the role of Caspase 8 and 3 polymorphisms in the pathogenesis of CAD. 300 CAD patients and 300 healthy controls were genotyped for polymorphisms in CASP8 (-652 6N del/ins, IVS12-19G>A), CASP3 (rs4647601;G>T) by PCR-RFLP...
June 17, 2017: Gene
https://www.readbyqxmd.com/read/28633916/novel-variant-of-oct4b4-is-differentially-expressed-in-human-embryonic-stem-and-embryonic-carcinoma-cells
#5
Ensieh M Poursani, Majid Mehravar, Bahram Mohammad Soltani, Seyed Javad Mowla
POU domain proteins are an important family of transcription factors that regulates cell type-specific gene expression. One of the most crucial members of this family that maintains pluripotency and self-renewal of embryonic stem cells is POU5F1/OCT4. The OCT4 gene can generate several variants under different situations/cell types includes OCT4A that is the major factor sustains pluripotency in embryonic stem and embryonic carcinoma cells, and also OCT4B and OCT4B1, which might be transcribed from a different potential promoter located in intron1 and are expressed in various tissues and cell types...
June 17, 2017: Gene
https://www.readbyqxmd.com/read/28629826/silencing-of-fkbp51-alleviates-the-mechanical-pain-threshold-inhibits-drg-inflammatory-factors-and-pain-mediators-through-the-nf-kappab-signaling-pathway
#6
Hong-Mei Yu, Qi Wang, Wen-Bo Sun
Neuropathic pain is chronic pain caused by lesions or diseases of the somatosensory system, currently available analgesics provide only temporal relief. The precise role of FK506 binding protein 51 (FKBP51) in neuropathic pain induced by chronic constriction injury (CCI) is not clear. The purpose of the present study was to investigate the effects and possible mechanisms of FKBP51 in neuropathic pain in the rat model of CCI. Our results showed that FKBP51 was obviously upregulated in a time-dependent manner in the dorsal root ganglion (DRG) in CCI rats...
June 16, 2017: Gene
https://www.readbyqxmd.com/read/28629825/ict1-predicts-a-poor-survival-and-correlated-with-cell-proliferation-in-diffuse-large-b-cell-lymphoma
#7
Wenjun Xie, Meijuan Wu, Tianhong Fu, Xiaohong Li, Zhaoming Wang, Yongxian Hu, Liyan Zhu, Gu Zhang
Immature colon carcinoma transcript-1 (ICT1) is a crucial member of the large mitoribosomal subunit in mitochondrial ribosome, which has been shown to be closely related to tumorigenesis. Its expression and function in human diffuse large B-cell lymphoma (DLBCL), however, remained elusive. In this study, analysis of public available Oncomine database suggested that the expression levels of ICT1 mRNA was significantly upregulated in DLBCL tissues. Consistently, we described ICT1 was remarkably upregulated in fresh DLBCL samples compared with the corresponding normal tissues using quantitative reverse-transcription polymerase chain reaction (qRT-PCR) and Western blotting...
June 16, 2017: Gene
https://www.readbyqxmd.com/read/28629824/comparison-of-shox-and-associated-elements-duplications-distribution-between-patients-l%C3%A4-ri-weill-dyschondrosteosis-idiopathic-short-stature-and-population-sample
#8
Katerina Hirschfeldova, Roman Solc
The effect of heterozygous duplications of SHOX and associated elements on Lėri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) development is less distinct when compared to reciprocal deletions. The aim of our study was to compare frequency and distribution of duplications within SHOX and associated elements between population sample and LWD (ISS) patients. A preliminary analysis conducted on Czech population sample of 250 individuals compared to our previously reported sample of 352 ISS/LWD Czech patients indicated that rather than the difference in frequency of duplications it is the difference in their distribution...
June 16, 2017: Gene
https://www.readbyqxmd.com/read/28629823/characterization-and-biological-function-analysis-of-the-trim47-gene-from-common-carp-cyprinus-carpio
#9
Yeda Wang, Ming Kuang, Yuanan Lu, Li Lin, Xueqin Liu
The TRIM family protein was known to play an important role in many cellular processes, including potential antiviral activity, which has attracted lots of attention. In this study, a TRIM47 homolog from common carp (Cyprinus carpio) was cloned and the full length coding DNA sequence (CDS) of this gene was analyzed, results showed that there was a 97% similarity between common carp and zebrafish (Danio rerio), but only 18% similarity with that of human (Homo sapiens) and mouse (Mus musculus). The tissue distribution analysis showed TRIM47 had the highest mRNA level in the brain, a few immune related organs such as liver and kidney also had a relatively high level of TRIM47 expression...
June 16, 2017: Gene
https://www.readbyqxmd.com/read/28625564/crispr-system-in-filamentous-fungi-current-achievements-and-future-directions
#10
REVIEW
Huaxiang Deng, Ruijie Gao, Xiangru Liao, Yujie Cai
As eukaryotes, filamentous fungi share many features with humans, and they produce numerous active metabolites, some of which are toxic. Traditional genetic approaches are generally inefficient, but the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system that has been widely used for basic research on bacteria, mammals and plants offers a simple, fast, versatile technology for systemic research on filamentous fungi. In this review, we summarized the current knowledge on Cas9 and its variants, different ways used to detect off-target, and different approaches used to express and transform the CRISPR complex...
June 15, 2017: Gene
https://www.readbyqxmd.com/read/28627444/associative-role-of-tyms6bpdel-polymorphism-and-resulting-hyperhomocysteinemia-in-the-pathogenesis-of-preterm-delivery-and-associated-complications-a-study-from-northeast-india
#11
Diptika Tiwari, Chandana Ray Das, Purabi Deka Bose, Sujoy Bose
Aberrations including genetic alterations in folate pathway are detrimental in multiple disease pathogenesis, including pregnancy. The present study is based on the screening of the associative role of TYMS 14946bp deletion(del) polymorphism and associated hyperhomocysteinemia in susceptibility to preterm delivery (PTD), which is strongly associated with neonatal mortality and morbidity. METHODS: A total of 209 PTD cases {extremely preterm (n=22), very preterm (n=43) and moderately preterm (n=144)} and 194 term delivery cases were evaluated for TYMS 14946bp deletion and its association with preterm delivery, pregnancy outcome, baby birth weight and homocysteine estimation...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28627443/impact-of-the-bcr-abl1-fusion-transcripts-on-different-responses-to-imatinib-and-disease-recurrence-in-iranian-patients-with-chronic-myeloid-leukemia
#12
Golale Rostami, Mohammad Hamid, Hasan Jalaeikhoo
BACKGROUND: One genomic breakpoint can result in variable BCR-ABL1 transcript types due to alternative splicing. The influence of different BCR-ABL1 transcript types on clinical outcome is still controversial. AIM OF THE STUDY: The objective of this analysis was to determine the impact of transcript type on response, clinical outcome, recurrence risk after treatment with Imatinib mesylate in Chronic Myeloid Leukemia (CML) patients. METHODS: Sixty CML patients in chronic phase were analyzed by quantitative real-time polymerase chain reaction (qRT-PCR) and banding standard protocols...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28627442/the-association-of-rs710886-in-lncrna-pcat1-with-bladder-cancer-risk-in-a-chinese-population
#13
Yadi Lin, Yuqiu Ge, Yunyan Wang, Gaoxiang Ma, Xiaowei Wang, Hanting Liu, Meilin Wang, Zhengdong Zhang, Haiyan Chu
OBJECTIVE: The long noncoding RNA PCAT1 is an important gene involved in urinary tumors. In this study, we aimed to explore the association between polymorphisms in PCAT1 and bladder cancer susceptibility. METHODS: A two-stage case-control study was conducted to assess the association between four tagging SNPs (i.e., rs4871771, rs1902432, rs16901904 and rs710886) and bladder cancer risk. Odds ratios (ORs) and their 95% confidence intervals (CIs) were calculated with unconditional univariate and multivariate logistic regression...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28627441/clinical-and-genetic-characteristics-of-17-chinese-patients-with-glycogen-storage-disease-type-ixa
#14
Jiangwei Zhang, Yuheng Yuan, Mingsheng Ma, Yan Liu, Weimin Zhang, Fengxia Yao, Zhengqing Qiu
Glycogen storage disease (GSD) type IXa is caused by PHKA2 mutation, which accounts for about 75% of all the GSD type IX cases. Here we first summarized the clinical data and analyzed the PHKA2 gene of 17 Chinese male patients suspected of having GSD type IXa. Clinical symptoms of our patients included hepatomegaly, growth retardation, and liver dysfunction. The clinical and biochemical manifestations improved and even disappeared with age. We detected 14 mutations in 17 patients, including 8 novel mutations; exons 2 and 4 were hot spots in this research...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28627440/microrna-21-regulates-hepatic-glucose-metabolism-by-targeting-foxo1
#15
Ailing Luo, Haibo Yan, Jichao Liang, Chunyuan Du, Xuemei Zhao, Lijuan Sun, Yong Chen
Abnormal activation of hepatic gluconeogenesis is a major contributor to fasting hyperglycemia in type 2 diabetes; however, the potential role of microRNAs in gluconeogenesis remains unclear. Here, we showed that hepatic expression levels of microRNA-21 (miR-21) were decreased in db/db and high-fat diet (HFD)-induced diabetic mice. Adenovirus-mediated overexpression of miR-21 decreased the expression of phosphoenolpyruvate carboxykinase (PEPCK) and glucose-6-phosphatase (G6Pase) and inhibited glucose production in primary mouse hepatocytes...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28627439/mitochondrial-prohibitin-and-its-ubiquitination-during-spermatogenesis-of-the-swimming-crab-charybdis-japonica
#16
Ya-Ru Xu, Yun-Shu Fan, Wan-Xi Yang
It has been proposed that prohibitin (PHB) involved in multiple cellular functions, including cell proliferation, differentiation, apoptosis, senescence and carcinogenesis. Various cellular compartment location of PHB demonstrates its diverse roles. Based on the full-length sequence of PHB gene, we analyzed the deduced amino acid sequence and the predicted protein structure of this gene in the swimming crab Charybdis japonica. It shows that the structure and function of PHB are conservative. The expression level of PHB mRNA and protein in different tissues were analyzed by sqRT-PCR and western blot respectively, which showed its high expression in testis...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28627438/genome-wide-identification-phylogeny-and-expression-of-bone-morphogenetic-protein-genes-in-tetraploidized-common-carp-cyprinus-carpio
#17
Lin Chen, Chuanju Dong, Shengnan Kong, Jiangfan Zhang, Xuejun Li, Peng Xu
Bone morphogenetic proteins (Bmps) are a group of signaling molecules known to play important roles during formation and maintenance of various organs, not only bone, but also muscle, blood and so on. Common carp (Cyprinus carpio) is one of the most intensively studied fish due to its economic and environmental importance. Besides, common carp had encountered an additional round of whole genome duplication (WGD) compared with many closely related diploid teleost, which make it one of the most important models for genome evolutionary studies in teleost...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28627437/molecular-characterization-and-functional-analysis-of-ppar%C3%AE-promoter-in-yellow-catfish-pelteobagrus-fulvidraco
#18
Wen-Jing You, Yao-Fang Fan, Yi-Huan Xu, Kun Wu, Xiao-Ying Tan
Peroxisome proliferator-activated receptor α (PPARα) is a ligand-activated transcription factor that plays critical roles in the regulation of many important physiological processes. In the present study, the 1686-bp PPARα promoter for yellow catfish Pelteobagrus fulvidraco was first cloned and characterized. The transcription start site (TSS) of PPARα gene was mapped using RLM-5'RACE method. The luciferase vectors were constructed and transiently transfected into HepG2 cells and HEK293 cells, respectively, for functional analysis of promoters...
June 13, 2017: Gene
https://www.readbyqxmd.com/read/28606835/identification-and-characterization-of-mobile-genetic-elements-lines-from-brassica-genome
#19
Faisal Nouroz, Shumaila Noreen, Muhammad Fiaz Khan, Shehzad Ahmed, J S Pat Heslop-Harrison
Among transposable elements (TEs), the LTR retrotransposons are abundant followed by non-LTR retrotransposons in plant genomes, the lateral being represented by LINEs and SINEs. Computational and molecular approaches were used for the characterization of Brassica LINEs, their diversity and phylogenetic relationships. Four autonomous and four non-autonomous LINE families were identified and characterized from Brassica. Most of the autonomous LINEs displayed two open reading frames, ORF1 and ORF2, where ORF1 is a gag protein domain, while ORF2 encodes endonuclease (EN) and a reverse transcriptase (RT)...
June 9, 2017: Gene
https://www.readbyqxmd.com/read/28606834/greb1-regulates-convergent-extension-movement-and-pituitary-development-in-zebrafish
#20
Shi-Zhu Li, Wei Liu, Zhi Li, Wen-Hua Li, Yang Wang, Li Zhou, Jian-Fang Gui
greb1, growth regulation by estrogen in breast cancer 1, is an important estrogen response gene, which participates in breast cancer formation. However, the role of greb1 in development is largely unknown. In this study, we have characterized greb1 expression patterns and revealed its regulative role in convergent extension movement and pituitary development in zebrafish. In zebrafish adults, greb1 was revealed to be expressed mainly in pituitary, hypothalamus, liver, and gonads. During embryogenesis, RT-PCR and WISH revealed its spatial and temporal expression specific to embryonic margin during gastrulation, central nervous system during segmentation and brain ventricular regions from 24hpf...
June 9, 2017: Gene
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